Browse by Research Team

2007

Genetic variation at the CYP2C locus and its association with torsemide biotransformation.
Vormfelde, S.V. and Schirmer, M. and Toliat, M.R. and Meineke, I. and Kirchheiner, J. and Nuernberg, P. and Brockmoeller, J.
Pharmacogenomics Journal 7 : 200-211. 1 June 2007

Genome-wide linkage analysis of malaria infection intensity and mild disease.
Timmann, C. and Evans, J.A. and Koenig, I.R. and Kleensang, A. and Ruschendorf, F. and Lenzen, J. and Sievertsen, J. and Becker, C. and Enuameh, Y. and Kwakye, K.O. and Opoku, E. and Browne, E.N. and Ziegler, A. and Nurnberg, P. and Horstmann, R.D.
PLoS Genetics 3 (3): 393-400. 23 March 2007

Polymorphism of IL-1alpha, IL-1beta and IL-10 in patients with advanced ovarian cancer: Results of a prospective study with 147 patients.
Braicu, E.I. and Mustea, A. and Toliat, M.R. and Pirvulescu, C. and Koensgen, D. and Sun, P. and Nuernberg, P. and Lichtenegger, W. and Sehouli, J.
Gynecologic Oncology 104 : 680-685. March 2007

De novo double mutation in PAX6 and mtDNA tRNA ( Lys ) associated with atypical aniridia and mitochondrial disease.
Brinckmann, A. and Ruether, K. and Williamson, K. and Lorenz, B. and Lucke, B. and Nuernberg, P. and Trijbels, F. and Janssen, A. and Schuelke, M.
Journal of Molecular Medicine 85 : 163-168. February 2007

2006

Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity.
Graefe, S.E.B. and Streichert, T. and Budde, B.S. and Nuernberg, P. and Steeg, C. and Mueller-Myhsok, B. and Fleischer, B.
PLoS ONE 1 (1): e57. 20 December 2006

Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
Cichon, S. and Martin, L. and Hennies, H.C. and Mueller, F. and Van Driessche, K. and Karpushova, A. and Stevens, W. and Colombo, R. and Renne, T. and Drouet, C. and Bork, K. and Noethen, M.M.
American Journal of Human Genetics 79 (6): 1098-1104. December 2006

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Bergmann, C. and Senderek, J. and Anhuf, D. and Thiel, C.T. and Ekici, A.B. and Poblete-Gutierrez, P. and van Steensel, M. and Seelow, D. and Nuernberg, G. and Schild, H.H. and Nuernberg, P. and Reis, A. and Frank, J. and Zerres, K.
American Journal of Human Genetics 79 (6): 1105-1109. December 2006

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes, B. and Wiggins, R.C. and Gbadegesin, R. and Vlangos, C.N. and Seelow, D. and Nuernberg, G. and Garg, P. and Verma, R. and Chaib, H. and Hoskins, B.E. and Ashraf, S. and Becker, C. and Hennies, H.C. and Goyal, M. and Wharram, B.L. and Schachter, A.D. and Mudumana, S. and Drummond, I. and Kerjaschki, D. and Waldherr, R. and Dietrich, A. and Ozaltin, F. and Bakkaloglu, A. and Cleper, R. and Basel-Vanagaite, L. and Pohl, M. and Griebel, M. and Tsygin, A.N. and Soylu, A. and Mueller, D. and Sorli, C.S. and Bunney, T.D. and Katan, M. and Liu, J. and Attanasio, M. and O'Toole, J.F. and Hasselbacher, K. and Mucha, B. and Otto, E.A. and Airik, R. and Kispert, A. and Kelley, G.G. and Smrcka, A.V. and Gudermann, T. and Holzman, L.B. and Nuernberg, P. and Hildebrandt, F.
Nature Genetics 38 (12): 1397-1405. December 2006

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.
Gedicke, M.M. and Traupe, H. and Fischer, B. and Tinschert, S. and Hennies, H.C.
British Journal of Dermatology 154 (1): 167-171. December 2006

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature sensitive phenotype.
Oji, V. and Hautier, J.M. and Ahvazi, B. and Hausser, I. and Aufenvenne, K. and Walker, T. and Seller, N. and Steijlen, P.M. and Kuester, W. and Hovnanian, A. and Hennies, H.C. and Traupe, H.
Human Molecular Genetics 15 (21): 3083-3097. 1 November 2006

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
Konrad, M. and Schaller, A. and Seelow, D. and Pandey, A.V. and Waldegger, S. and Lesslauer, A. and Vitzthum, H. and Suzuki, Y. and Luk, J.M. and Becker, C. and Schlingmann, K.P. and Schmid, M. and Rodriguez-Soriano, J. and Ariceta, G. and Cano, F. and Enriquez, R. and Jueppner, H. and Bakkaloglu, S.A. and Hediger, M.A. and Gallati, S. and Neuhauss, S.C.F. and Nuernberg, P. and Weber, S.
American Journal of Human Genetics 79 (5): 949-957. 1 November 2006

SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.
Elsharawy, A. and Manaster, C. and Teuber, M. and Rosenstiel, P. and Kwiatkowski, R. and Huse, K. and Platzer, M. and Becker, A. and Nuernberg, P. and Schreiber, S. and Hampe, J.
Human Mutation 27 : 1129-1134. November 2006

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.
Vanita, V. and Hennies, H.C. and Singh, D. and Nuernberg, P. and Sperling, K. and Singh, J.R.
Molecular Vision 12 (136-138): 1217-1222. 18 October 2006

Funktionelle Analyse von komplexen Hepatitis-B-Virus-Varianten, assoziiert mit Leberzirrhose bei Immunsupprimierten.
Maerschenz, S.
UNSPECIFIED thesis, UNSPECIFIED. 6 October 2006

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Rauch, A. and Hoyer, J. and Guth, S. and Zweier, C. and Kraus, C. and Becker, C. and Zenker, M. and Hueffmeier, U. and Thiel, C. and Rueschendorf, F. and Nuernberg, P. and Reis, A. and Trautmann, U.
American Journal of Medical Genetics A 140A (19): 2063-2074. 1 October 2006

Consequences of group fission for the patterns of relatedness among rhesus macaques.
Widdig, A. and Nuernberg, P. and Bercovitch, F.B. and Trefilov, A. and Berard, J.B. and Kessler, M.J. and Schmidtke, J. and Streich, W.J. and Krawczak, M.
Molecular Ecology 15 (12): 3825-3832. October 2006

Exploration of the genetic architecture of idiopathic generalized epilepsies.
Hempelmann, A. and Taylor, K.P. and Heils, A. and Lorenz, S. and Prud'homme, J.F. and Nabbout, R. and Dulac, O. and Rudolf, G. and Zara, F. and Bianchi, A. and Robinson, R. and Gardiner, R.M. and Covanis, A. and Lindhout, D. and Stephani, U. and Elger, C.E. and Weber, Y.G. and Lerche, H. and Nuernberg, P. and Kron, K.L. and Scheffer, I.E. and Mulley, J.C. and Berkovic, S.F. and Sander, T.
Epilepsia 47 (10): 1682-1690. October 2006

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Lugassy, J. and Itin, P. and Ishida-Yamamoto, A. and Holland, K. and Huson, S. and Geiger, D. and Hennies, H.C. and Indelman, M. and Bercovich, D. and Uitto, J. and Bergman, R. and McGrath, J.A. and Richard, G. and Sprecher, E.
American Journal of Human Genetics 79 (4): 724-730. October 2006

SNP-Based analysis of genetic substructure in the German population.
Steffens, M. and Lamina, C. and Illig, T. and Bettecken, T. and Vogler, R. and Entz, P. and Suk, E.K. and Toliat, M.R. and Klopp, N. and Caliebe, A. and Koenig, I.R. and Koehler, K. and Luedemann, J. and Lacava, A.D. and Fimmers, R. and Lichtner, P. and Ziegler, A. and Wolf, A. and Krawczak, M. and Nuernberg, P. and Hampe, J. and Schreiber, S. and Meitinger, T. and Wichmann, H.E. and Roeder, K. and Wienker, T.F. and Baur, M.P.
Human Heredity 62 (1): 20-29. October 2006

Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.
Dempfle, A. and Wudy, S.A. and Saar, K. and Hagemann, S. and Friedel, S. and Scherag, A. and Berthold, L.D. and Alzen, G. and Gortner, L. and Blum, W.F. and Hinney, A. and Nuernberg, P. and Schaefer, H. and Hebebrand, J.
Human Molecular Genetics 15 (18): 2772-2783. 15 September 2006

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher, K. and Wiggins, R.C. and Matejas, V. and Hinkes, B.G. and Mucha, B. and Hoskins, B.E. and Ozaltin, F. and Nuernberg, G. and Becker, C. and Hangan, D. and Pohl, M. and Kuwertz-Broeking, E. and Griebel, M. and Schumacher, V. and Royer-Pokora, B. and Bakkaloglu, A. and Nuernberg, P. and Zenker, M. and Hildebrandt, F.
Kidney International 70 (6): 1008-1012. 2 September 2006

Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis.
Maerschenz, S. and Endres, A.S. and Brinckmann, A. and Heise, T. and Kristiansen, G. and Nuernberg, P. and Krueger, D.H. and Guenther, S. and Meisel, H.
Gastroenterology 131 (3): 765-780. September 2006

Torsemide renal clearance and genetic variation in luminal and basolateral organic anion transporters.
Vormfelde, S.V. and Schirmer, M. and Hagos, Y. and Toliat, M.R. and Engelhardt, S. and Meineke, I. and Burckhardt, G. and Nuernberg, P. and Brockmoeller, J.
British Journal of Clinical Pharmacology 62 (3): 323-335. September 2006

Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations.
Bauerfeind, A. and Knoblauch, H. and Costanza, M.C. and Luganskaja, T. and Toliat, M.R. and Nuernberg, P. and Luft, F.C. and Reich, J.G. and Morabia, A.
Human Heredity 61 (3): 123-131. August 2006

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.
Wycisk, K.A. and Budde, B. and Feil, S. and Skosyrski, S. and Buzzi, F. and Neidhardt, J. and Glaus, E. and Nuernberg, P. and Ruether, K. and Berger, W.
Investigative Ophthalmology & Visual Science 47 : 3523-3530. August 2006

A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26.
Ellinor, P.T. and Sasse-Klaassen, S. and Probst, S. and Gerull, B. and Shin, J.T. and Toeppel, A. and Heuser, A. and Michely, B. and Yoerger, D.M. and Song, B.S. and Pilz, B. and Krings, G. and Coplin, B. and Lange, P.E. and Dec, G.W. and Hennies, H.C. and Thierfelder, L. and MacRae, C.A.
Journal of the American College of Cardiology 48 (1): 106-111. 4 July 2006

Investigation of the HLA-DRB1 locus in alopecia areata.
Entz, P. and Blaumeiser, B. and Betz, R.C. and Lambert, J. and Seymons, K. and Eigelshoven, S. and Hanneken, S. and Kruse, R. and Nuernberg, P. and Nagy, M. and Noethen, M.M.
European Journal of Dermatology 16 (4): 363-367. July 2006

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
Wolf, M.T. and Mucha, B.E. and Hennies, H.C. and Attanasio, M. and Panther, F. and Zalewski, I. and Karle, S.M. and Otto, E.A. and Deltas, C.C. and Fuchshuber, A. and Hildebrandt, F.
Human Genetics 119 (6): 649-658. July 2006

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay, E. and Li, Y. and Uzumcu, A. and Uyguner, O. and Collin, R.W. and Caylan, R. and Ulubil-Emiroglu, M. and Kersten, F.F. and Hafiz, G. and van Wijk, E. and Kayserili, H. and Rohmann, E. and Wagenstaller, J. and Hoefsloot, L.H. and Strom, T.M. and Nuernberg, G. and Baserer, N. and den Hollander, A.I. and Cremers, F.P. and Cremers, C.W. and Becker, C. and Brunner, H.G. and Nuernberg, P. and Karaguzel, A. and Basaran, S. and Kubisch, C. and Kremer, H. and Wollnik, B.
Human Mutation 27 : 633-639. July 2006

GENOMIZER: an integrated analysis system for genome-wide association data.
Franke, A. and Wollstein, A. and Teuber, M. and Wittig, M. and Lu, T. and Hoffmann, K. and Nuernberg, P. and Krawczak, M. and Schreiber, S. and Hampe, J.
Human Mutation 27 : 583-588. June 2006

Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.
Todt, I. and Hennies, H.C. and Kuester, W. and Smolle, J. and Rademacher, G. and Mutze, S. and Basta, D. and Eisenschenk, A. and Ernst, A.
Audiology & Neuro-Otology 11 (4): 242-248. June 2006

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer, J.A. and Otto, E.A. and O'toole, J.F. and Nuernberg, G. and Kennedy, M.A. and Becker, C. and Hennies, H.C. and Helou, J. and Attanasio, M. and Fausett, B.V. and Utsch, B. and Khanna, H. and Liu, Y. and Drummond, I. and Kawakami, I. and Kusakabe, T. and Tsuda, M. and Ma, L. and Lee, H. and Larson, R.G. and Allen, S.J. and Wilkinson, C.J. and Nigg, E.A. and Shou, C. and Lillo, C. and Williams, D.S. and Hoppe, B. and Kemper, M.J. and Neuhaus, T. and Parisi, M.A. and Glass, I.A. and Petry, M. and Kispert, A. and Gloy, J. and Ganner, A. and Walz, G. and Zhu, X. and Goldman, D. and Nuernberg, P. and Swaroop, A. and Leroux, M.R. and Hildebrandt, F.
Nature Genetics 38 : 674-681. June 2006

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.
Vanita, V. and Singh, J.R. and Hejtmancik, J.F. and Nuernberg, P. and Hennies, H.C. and Singh, D. and Sperling, K.
Molecular Vision 12 : 518-522. 22 May 2006

Evaluation of CACNA1H in European patients with childhood absence epilepsy.
Chioza, B. and Everett, K. and Aschauer, H. and Brouwer, O. and Callenbach, P. and Covanis, A. and Dulac, O. and Durner, M. and Eeg-Olofsson, O. and Feucht, M. and Friis, M. and Heils, A. and Kjeldsen, M. and Larsson, K. and Lehesjoki, A.E. and Nabbout, R. and Olsson, I. and Sander, T. and Siren, A. and Robinson, R. and Rees, M. and Gardiner, R.M.
Epilepsy Research 69 (2): 177-181. May 2006

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Seifert, W. and Holder-Espinasse, M. and Spranger, S. and Hoeltzenbein, M. and Rossier, E. and Dollfus, H. and Lacombe, D. and Verloes, A. and Chrzanowska, K.H. and Maegawa, G.H. and Chitayat, D. and Kotzot, D. and Huhle, D. and Meinecke, P. and Albrecht, B. and Mathijssen, I. and Leheup, B. and Raile, K. and Hennies, H.C. and Horn, D.
Journal of Medical Genetics 43 (5): e22. May 2006

Polymorphisms in the genes encoding chemokine receptor 5, interleukin-10, and monocyte chemoattractant protein 1 contribute to cytomegalovirus reactivation and disease after allogeneic stem cell transplantation.
Loeffler, J. and Steffens, M. and Arlt, E.M. and Toliat, M.R. and Mezger, M. and Suk, A. and Wienker, T.F. and Hebart, H. and Nuernberg, P. and Boeckh, M. and Ljungman, P. and Trenschel, R. and Einsele, H.
Journal of Clinical Microbiology 44 : 1847-1850. May 2006

Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras.
Hannan, F. and Ho, I. and Tong, J. and Zhu, Y. and Nuernberg, P. and Zhong, Y.
Human Molecular Genetics 15 : 1087-1098. 1 April 2006

Expression profiling of uniparental mouse embryos is inefficient in identifying novel imprinted genes.
Ruf, N. and Duenzinger, U. and Brinckmann, A. and Haaf, T. and Nuernberg, P. and Zechner, U.
Genomics 87 (4): 509-519. April 2006

Mutations in different components of FGF signaling in LADD syndrome [Erratum in: Nat Genet. vol 38, pg 495, 2006].
Rohmann, E. and Brunner, H.G. and Kayserili, H. and Uyguner, O. and Nuernberg, G. and Lew, E.D. and Dobbie, A. and Eswarakumar, V.P. and Uzumcu, A. and Ulubil-Emeroglu, M. and Leroy, J.G. and Li, Y. and Becker, C. and Lehnerdt, K. and Cremers, C.W. and Yueksel-Apak, M. and Nuernberg, P. and Kubisch, C. and Schlessinger, J. and van Bokhoven, H. and Wollnik, B.
Nature Genetics 38 : 414-417. April 2006

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.
Vanita, V. and Hejtmancik, J.F. and Hennies, H.C. and Guleria, K. and Nuernberg, P. and Singh, D. and Sperling, K. and Singh, J.R.
Molecular Vision 12 : 93-99. 21 February 2006

A genome-wide scan for attention-deficit/hyperactivity disorder in 155 german sib-pairs.
Hebebrand, J. and Dempfle, A. and Saar, K. and Thiele, H. and Herpertz-Dahlmann, B. and Linder, M. and Kiefl, H. and Remschmidt, H. and Hemminger, U. and Warnke, A. and Knoelker, U. and Heiser, P. and Friedel, S. and Hinney, A. and Schaefer, H. and Nuernberg, P. and Konrad, K.
Molecular Psychiatry 11 (2): 196-205. February 2006

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi, M. and Motazacker, M.M. and Kahrizi, K. and Behjati, F. and Abedini, S.S. and Nieh, S.E. and Firouzabadi, S.G. and Becker, C. and Rueschendorf, F. and Nuernberg, P. and Tzschach, A. and Vazifehmand, R. and Erdogan, F. and Ullmann, R. and Lenzner, S. and Kuss, A.W. and Ropers, H.H. and Najmabadi, H.
Human Genetics 118 (6): 708-715. February 2006

Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease.
Zheng, W. and Rosenstiel, P. and Huse, K. and Sina, C. and Valentonyte, R. and Mah, N. and Zeitlmann, L. and Grosse, J. and Ruf, N. and Nuernberg, P. and Costello, C.M. and Onnie, C. and Mathew, C. and Platzer, M. and Schreiber, S. and Hampe, J.
Genes and Immunity 7 : 11-18. January 2006

Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations.
Schirmer, M. and Toliat, M.R. and Haberl, M. and Suk, A. and Kamdem, L.K. and Klein, K. and Brockmoeller, J. and Nuernberg, P. and Zanger, U.M. and Wojnowski, L.
Pharmacogenetics and Genomics 16 (1): 59-71. January 2006

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Stadt, U.Z. and Beutel, K. and Kolberg, S. and Schneppenheim, R. and Kabisch, H. and Janka, G. and Hennies, H.C.
Human Mutation 27 (1): 62-68. January 2006

New universal primers facilitate PyrosequencingTM.
Aydin, A. and Toliat, M.R. and Bähring, S. and Becker, C. and Nürnberg, P.
Electrophoresis 27 (2): 394-397. January 2006

2005

NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity.
Wojnowski, L. and Kulle, B. and Schirmer, M. and Schlueter, G. and Schmidt, A. and Rosenberger, A. and Vonhof, S. and Bickeboeller, H. and Toliat, M.R. and Suk, E.K. and Tzvetkov, M. and Kruger, A. and Seifert, S. and Kloess, M. and Hahn, H. and Loeffler, M. and Nuernberg, P. and Pfreundschuh, M. and Truemper, L. and Brockmoeller, J. and Hasenfuss, G.
Circulation 112 (24): 3754-3762. 5 December 2005

Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24.
Schumacher, J. and Kaneva, R. and Jamra, R.A. and Diaz, G.O. and Ohlraun, S. and Milanova, V. and Lee, Y.A. and Rivas, F. and Mayoral, F. and Fuerst, R. and Flaquer, A. and Windemuth, C. and Gay, E. and Sanz, S. and Gonzalez, M.J. and Gil, S. and Cabaleiro, F. and del Rio, F. and Perez, F. and Haro, J. and Kostov, C. and Chorbov, V. and Nikolova-Hill, A. and Stoyanova, V. and Onchev, G. and Kremensky, I. and Strauch, K. and Schulze, T.G. and Nuernberg, P. and Gaebel, W. and Klimke, A. and Auburger, G. and Wienker, T.F. and Kalaydjieva, L. and Propping, P. and Cichon, S. and Jablensky, A. and Rietschel, M. and Noethen, M.M.
American Journal of Human Genetics 77 (6): 1102-1111. 1 December 2005

Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters.
Graw, J. and Loester, J. and Puk, O. and Muenster, D. and Haubst, N. and Soewarto, D. and Fuchs, H. and Meyer, B. and Nuernberg, P. and Pretsch, W. and Selby, P. and Favor, J. and Wolf, E. and de Angelis, M.H.
Investigative Ophthalmology & Visual Science 46 (12): 4671-4683. 1 December 2005

Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy.
Lenzen, K.P. and Heils, A. and Lorenz, S. and Hempelmann, A. and Sander, T.
Epilepsia 46 (10): 1637-1641. 1 October 2005

Use of haplotypes and SNPs in lipid-relevant genes for the analysis and diagnosis of cardiovascular diseases [Verwendung von Haplotypen und SNPs in Genen des Fettstoffwechsels fuer die Analyse und Diagnose von kardiovaskulaeren Krankheiten].
Nuernberg, P. and Reich, J.G. and Luft, F.C. and Knoblauch, H. and Bauerfeind, A. and Luganskaja, T. and Rohde, K.
EP1566449. 24 August 2005

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Eckl, K.M. and Krieg, P. and Kuester, W. and Traupe, H. and Andre, F. and Wittstruck, N. and Fuerstenberger, G. and Hennies, H.C.
Human Mutation 26 (4): 351-361. 22 August 2005

A new EF-hand containing gene EFHC2 on Xp11.4: Tentative evidence for association with juvenile myoclonic epilepsy.
Gu, W. and Sander, T. and Heils, A. and Lenzen, K.P. and Steinlein, O.K.
Epilepsy Research 66 (1-3): 91-98. 18 August 2005

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.
de Brouwer, A.P.M. and Kunst, H.P.M. and Krebsova, A. and van Asseldonk, K. and Reis, A. and Snoeckx, R.L. and Van Camp, G. and Cremers, C.W.R.J. and Cremers, F.P.M. and Kremer, H.
American Journal of Medical Genetics A 137A : 41-46. 15 August 2005

Vestibular dysfunction of patients with mutations of connexin 26.
Todt, I. and Hennies, H.C. and Basta, D. and Ernst, A.
NeuroReport 16 (11): 1179-1181. 1 August 2005

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.
Cheng, K.S. and Chen, M.R. and Ruf, N. and Lin, S.P. and Rutsch, F.
American Journal of Medical Genetics A 136 (2): 210-213. 15 July 2005

Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.
Suk, E.K. and Malkin, I. and Dahm, S. and Kalichman, L. and Ruf, N. and Kobyliansky, E. and Toliat, M. and Rutsch, F. and Nuernberg, P. and Livshits, G.
Arthritis Research & Therapy 7 (5): R1082-R1090. 13 July 2005

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.
Hillmer, A.M. and Hanneken, S. and Ritzmann, S. and Becker, T. and Freudenberg, J. and Brockschmidt, F.F. and Flaquer, A. and Freudenberg-Hua, Y. and Jamra, R.A. and Metzen, C. and Heyn, U. and Schweiger, N. and Betz, R.C. and Blaumeiser, B. and Hampe, J. and Schreiber, S. and Schulze, T.G. and Hennies, H.C. and Schumacher, J. and Propping, P. and Ruzicka, T. and Cichon, S. and Wienker, T.F. and Kruse, R. and Noethen, M.M.
American Journal of Human Genetics 77 (1): 140-148. July 2005

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.
Bertrand, D. and Elmslie, F. and Hughes, E. and Trounce, J. and Sander, T. and Bertrand, S. and Steinlein, O.K.
Neurobiology of Disease 20 (3): 799-804. 17 June 2005

Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.
Lenzen, K.P. and Heils, A. and Lorenz, S. and Hempelmann, A. and Sander, T.
Epilepsy Research 65 (1-2): 53-57. June 2005

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.
Tukel, T. and Uzumcu, A. and Gezer, A. and Kayserili, H. and Yuksel-Apak, M. and Uyguner, O. and Gultekin, S.H. and Hennies, H.C. and Nuernberg, P. and Desnick, R.J. and Wollnik, B.
Journal of Medical Genetics 42 (5): 408-415. May 2005

Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins.
Kolde, G. and Hennies, H.C. and Bethke, G. and Reichart, P.A.
Journal of the American Academy of Dermatology 52 : 403-409. 1 March 2005

Genomewide linkage analysis identifies novel genetic loci for lung function in mice.
Reinhard, C. and Meyer, B. and Fuchs, H. and Stoeger, T. and Eder, G. and Rueschendorf, F. and Heyder, J. and Nuernberg, P. and Hrabe de Angelis, M. and Schulz, H.
American Journal of Respiratory and Critical Care Medicine 171 : 880-888. 7 January 2005

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.
Altmüller, J. and Seidel, C. and Lee, Y.A. and Loesgen, S. and Bulle, D. and Friedrichs, F. and Jellouschek, H. and Kelber, J. and Keller, A. and Schuster, A. and Silbermann, M. and Wahlen, W. and Wolff, P. and Rueschendorf, F. and Schlenvoigt, G. and Nuernberg, P. and Wjst, M.
BMC Pulmonary Medicine 5 : 1. 5 January 2005

A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3.
Kurz, T. and Altmueller, J. and Strauch, K. and Rueschendorf, F. and Heinzmann, A. and Moffatt, M.F. and Cookson, W.O.C.M. and Inacio, F. and Nuernberg, P. and Stassen, H.H. and Deichmann, K.A.
Allergy 60 : 192-199. 1 January 2005

ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
Rueschendorf, F. and Nuernberg, P.
Bioinformatics 21 : 2123-2125. 1 January 2005

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures.
Straussberg, R. and Basel-Vanagaite, L. and Kivity, S. and Dabby, R. and Cirak, S. and Nuernberg, P. and Voit, T. and Mahajnah, M. and Inbar, D. and Saifi, G.M. and Lupski, J.R. and Delague, V. and Megarbane, A. and Richter, A. and Leshinsky, E. and Berkovic, S.F.
Neurology 64 (1): 142-144. 1 January 2005

Application of genomewide SNP arrays for detection of simulated susceptibility loci.
Kulle, B. and Schirmer, M. and Toliat, M.R. and Suk, A. and Becker, C. and Tzvetkov, M.V. and Brockmoeller, J. and Bickeboeller, H. and Hasenfuss, G. and Nuernberg, P. and Wojnowski, L.
Human Mutation 25 (6): 557-565. 1 January 2005

Association of ANKH gene polymorphisms with radiographic hand bone size and geometry in a Chuvasha population.
Malkin, I. and Dahm, S. and Suk, A. and Kobyliansky, E. and Toliat, M.R. and Ruf, N. and Livshits, G. and Nuernberg, P.
Bone 36 (2): 365-373. 1 January 2005

Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips.
Goedde, R. and Rohde, K. and Becker, C. and Toliat, M. and Entz, P. and Suk, A. and Mueller, N. and Sindern, E. and Haupts, M. and Schimrigk, S. and Nuernberg, P. and Epplen, J.
Journal of Molecular Medicine 83 (6): 486-494. 1 January 2005

Connexin-26-Mutation bei "Keratitis-Ichthyosis-Deafness"-Syndrom (KID-Syndrom) [Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].
Binder, B. and Hennies, H.C. and Kraschl, R. and Smolle, J.
Journal der Deutschen Dermatologischen Gesellschaft : JDDG 3 (2): 105-108. 1 January 2005

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
Janecke, A.R. and Hennies, H.C. and Guenther, B. and Gansl, G. and Smolle, J. and Messmer, E.M. and Utermann, G. and Rittinger, O.
American Journal of Medical Genetics A 133A (2): 128-131. 1 January 2005

Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.
Weber, S. and Mir, S. and Schlingmann, K. and Nuernberg, G. and Becker, C. and Kara, P. and Ozkayin, N. and Konrad, M. and Nuernberg, P. and Schaefer, F.
Pediatric Nephrology 20 (8): 1036-1042. 1 January 2005

Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy.
Tauer, U. and Lorenz, S. and Lenzen, K.P. and Heils, A. and Muhle, H. and Gresch, M. and Neubauer, B.A. and Waltz, S. and Rudolf, G. and Mattheisen, M. and Strauch, K. and Schmitz, B. and Stephani, U. and Sander, T.
Annals of Neurology 57 (6): 866-873. 1 January 2005

Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification.
Tzvetkov, M.V. and Becker, C. and Kulle, B. and Nuernberg, P. and Brockmoeller, J. and Wojnowski, L.
Electrophoresis 26 (3): 710-715. 1 January 2005

HaploPainter: a tool for drawing pedigrees with complex haplotypes.
Thiele, H. and Nuernberg, P.
Bioinformatics 21 (8): 1730-1732. 1 January 2005

Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies.
Pichler, R. and Stelzer, C. and Berg, J. and Holzinger, C. and Eckl, K.M. and Hennies, H.C. and Auboeck, J.
Archives of Dermatological Research 296 (12): 585-587. 1 January 2005

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
Jenne, D.E. and Kley, R.A. and Vorgerd, M. and Schroeder, J.M. and Weis, J. and Reimann, H. and Albrecht, B. and Nuernberg, P. and Thiele, H. and Mueller, C.R. and Meng, G. and Witt, C.C. and Labeit, S.
Biological Chemistry 386 (1): 61-67. 1 January 2005

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
zur Stadt, U. and Schmidt, S. and Kasper , B. and Beutel, K. and Diler, A.S. and Henter, J.I. and Kabisch, H. and Schneppenheim, R. and Nuernberg, P. and Janka, G. and Hennies, H.C.
Human Molecular Genetics 14 (6): 827-834. 1 January 2005

Male reproductive timing in rhesus macaques is influenced by the 5HTTLPR promoter polymorphism of the serotonin transporter gene.
Krawczak, M. and Trefilov, A. and Berard, J. and Bercovitch, F. and Kessler, M. and Sauermann, U. and Croucher, P. and Nuernberg, P. and Widdig, A. and Schmidtke, J.
Biology of Reproduction 72 (5): 1109-1113. 1 January 2005

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.
Wolf, M.T. and Zalewski, I. and Martin, F.C. and Ruf, R. and Müller, D. and Hennies, H.C. and Schwarz, S. and Panther, F. and Attanasio, M. and Acosta, H.G. and Imm, A. and Lucke, B. and Utsch, B. and Otto, E. and Nuernberg, P. and Nieto, V.G. and Hildebrandt, F.
Nephrology Dialysis Transplantation 20 (5): 909-914. 1 January 2005

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
Metherell, L.A. and Chapple, J.P. and Cooray, S. and David, A. and Becker, C. and Rueschendorf, F. and Naville, D. and Begeot, M. and Khoo, B. and Nuernberg, P. and Huebner, A. and Cheetham, M.E. and Clark, A.J.L.
Nature Genetics 37 (2): 166-170. 1 January 2005

New strategies for efficient typing of HLA class-II loci DQB1 and DRB1 by using PyrosequencingTM.
Entz, P. and Toliat, M.R. and Hampe, J. and Valentonyte, R. and Jenisch, S. and Nuernberg, P. and Nagy, M.
Tissue Antigens 65 (1): 67-80. 1 January 2005

Polymorphisms in the NMDA subunit 2B are not associated with alcohol dependence and alcohol withdrawal-induced seizures and delirium tremens.
Tadic, A. and Dahmen, N. and Szegedi, A. and Rujescu, D. and Giegling, I. and Koller, G. and Anghelescu, I. and Fehr, C. and Klawe, C. and Preuss, U. and Sander, T. and Toliat, M. and Singer, P. and Bondy, B. and Soyka, M.
European Archives of Psychiatry and Clinical Neuroscience 255 (2): 129-135. 1 January 2005

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI) [Erratum in: Hum Mutat. vol 26, pg 495-6, 2005].
Ruf, N. and Uhlenberg, B. and Terkeltaub, R. and Nuernberg, P. and Rutsch, F.
Human Mutation 25 (1): 98. 1 January 2005

2004

A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model.
Meyer, B. and Bazzi, H. and Zidek, V. and Musilova, A. and Pravenec, M. and Kurtz, T.W. and Nuernberg, P. and Christiano, A.M.
Differentiation 72 (9-10): 541-547. 1 December 2004

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg, B. and Schuelke, M. and Rueschendorf, F. and Ruf, N. and Kaindl, A.M. and Henneke, M. and Thiele, H. and Stoltenburg-Didinger, G. and Aksu, F. and Topaloglu, H. and Nuernberg, P. and Huebner, C. and Weschke, B. and Gaertner, J.
American Journal of Human Genetics 75 (2): 251-260. August 2004

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
Hennies, H.C. and Rauch, A. and Seifert, W. and Schumi, C. and Moser, E. and Al-Taji, E. and Tariverdian, G. and Chrzanowska, K.H. and Krajewska-Walasek, M. and Rajab, A. and Giugliani, R. and Neumann, T.E. and Eckl, K.M. and Karbasiyan, M. and Reis, A. and Horn, D.
American Journal of Human Genetics 75 (1): 138-145. July 2004

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.
Thiele, H. and Sakano, M. and Kitagawa, H. and Sugahara, K. and Rajab, A. and Hoehne, W. and Ritter, H. and Leschik, G. and Nuernberg, P. and Mundlos, S.
Proceedings of the National Academy of Sciences of the United States of America 101 (27): 10155-10160. 23 June 2004

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.
Sasse-Klaassen, S. and Probst, S. and Gerull, B. and Oechslin, E. and Nuernberg, P. and Heuser, A. and Jenni, R. and Hennies, H.C. and Thierfelder, L.
Circulation 109 (22): 2720-2723. 8 June 2004

A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.
Van Den Bogaert, K. and De Leenheer, E.M.R. and Chen, W. and Lee, Y. and Nuernberg, P. and Pennings, R.J.E. and Vanderstraeten, K. and Thys, M. and Cremers, C.W.R.J. and Smith, R.J.H. and Van Camp, G.
Journal of Medical Genetics 41 (6): 450-453. June 2004

Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.
Pusch, C.M. and Meyer, B. and Kupka, S. and Smith, R.J. and Lalwani, A.K. and Zenner, H.P. and Blin, N. and Nuernberg, P. and Pfister, M.
Journal of Molecular Medicine 82 (6): 398-402. June 2004

Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol.
Knoblauch, H. and Bauerfeind, A. and Toliat, M.R. and Becker, C. and Luganskaja, T. and Guenther, U.P. and Rohde, K. and Schuster, H. and Junghans, C. and Luft, F.C. and Nuernberg, P. and Reich, J.G.
Human Molecular Genetics 13 (10): 993-1004. 15 May 2004

A longitudinal analysis of reproductive skew in male rhesus macaques.
Widdig, A. and Bercovitch, F.B. and Streich, W.J. and Sauermann, U. and Nuernberg, P. and Krawczak, M.
Proceedings of the Royal Society of London Series B-Biological Sciences 271 (1541): 819-826. 22 April 2004

Association of the serum and glucocorticoid regulated kinase (sgk1) gene with QT interval.
Busjahn, A. and Seebohm, G. and Maier, G. and Toliat, M.R. and Nuernberg, P. and Aydin, A. and Luft, F.C. and Lang, F.
Cellular Physiology and Biochemistry 14 (3): 135-142. April 2004

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Donaudy, F. and Snoeckx, R. and Pfister, M. and Zenner, H.P. and Blin, N. and Di Stazio, M. and Ferrara, A. and Lanzara, C. and Ficarella, R. and Declau, F. and Pusch, C.M. and Nuernberg, P. and Melchionda, S. and Zelante, L. and Ballana, E. and Estivill, X. and Van Camp, G. and Gasparini, P. and Savoia, A.
American Journal of Human Genetics 74 (4): 770-776. April 2004

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.
Thiele, H. and McCann, C. and vant Padje, S. and Schwabe, G.C. and Hennies, H.C. and Camera, G. and Opitz, J. and Laxova, R. and Mundlos, S. and Nuernberg, P.
Journal of Medical Genetics 41 (3): 213-218. March 2004

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.
Buono, R.J. and Lohoff, F.W. and Sander, T. and Sperling, M.R. and O'Connor, M.J. and Dlugos, D.J. and Ryan, S.G. and Golden, G.T. and Zhao, H. and Scattergood, T.M. and Berrettini, W.H. and Ferraro, T.N.
Epilepsy Research 58 (2-3): 175-183. February 2004

Phaenotypische Charakterisierung einer DFNA6-Familie mit Tieftonschwerhoerigkeit [Phenotypic characterization of a DFNA6 family with low-frequency hearing loss].
Toth, T. and Kupka, S. and Nuernberg, P. and Thiele, H. and Zenner, H.R. and Sziklai, I. and Pfister, M.
HNO 52 (2): 132-136. February 2004

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.
Pfister, M. and Thiele, H. and Van Camp, G. and Fransen, E. and Apaydin, F. and Aydin, O. and Leistenschneider, P. and Devoto, M. and Zenner, H.P. and Blin, N. and Nuernberg, P. and Ozkarakas, H. and Kupka, S.
Cellular Physiology and Biochemistry 14 (4-6): 369-376. 1 January 2004

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.
Tinschert, S. and Ruf, N. and Bernascone, I. and Sacherer, K. and Lamorte, G. and Neumayer, H.H. and Nuernberg, P. and Luft, F.C. and Rampoldi, L.
Nephrology Dialysis Transplantation 19 (12): 3150-3154. 1 January 2004

Gene-ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.
Robinson, P.N. and Boehme, U. and Lopez, R. and Mundlos, S. and Nuernberg, P.
Human Molecular Genetics 13 (17): 1969-1978. 1 January 2004

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter.
Bayer, Y. and Neumann, S. and Meyer, B. and Rueschendorf, F. and Reske, A. and Brix, T. and Hegedues, L. and Langer, P. and Nuernberg, P. and Paschke, R.
Journal of Clinical Endocrinology and Metabolism 89 (8): 4044-4052. 1 January 2004

In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons.
Kaufmann, D. and Kenner, O. and Nuernberg, P. and Vogel, W. and Bartelt, B.
European Journal of Human Genetics 12 (2): 139-149. 1 January 2004

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl, A.M. and Rueschendorf, F. and Krause, S. and Goebel, H.H. and Koehler, K. and Becker, C. and Pongratz, D. and Mueller-Hoecker, J. and Nuernberg, P. and Stoltenburg-Didinger, G. and Lochmueller, H. and Huebner, A.
Journal of Medical Genetics 41 (11): 842-848. 1 January 2004

Molecular karyotyping using an SNP array for genomewide genotyping.
Rauch, A. and Rueschendorf, F. and Huang, J. and Trautmann, U. and Becker, C. and Thiel, C. and Jones, K.W. and Reis, A. and Nuernberg, P.
Journal of Medical Genetics 41 (12): 916-922. 1 January 2004

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Janecke, A.R. and Thompson, D.A. and Utermann, G. and Becker, C. and Huebner, C.A. and Schmid, E. and McHenry, C.L. and Nair, A.R. and Rueschendorf, F. and Heckenlively, J. and Wissinger, B. and Nuernberg, P. and Gal, A.
Nature Genetics 36 (8): 850-854. 1 January 2004

Nonelectrophoretic method for high-throughput HLA-DRB1 group genotyping.
Hampe, J. and Valentonyte, R. and Manaster, C. and Teuber, M. and Jenisch, S. and Entz, P. and Nagy, M. and Schreiber, S.
Biotechniques 36 (1): 148-151. 1 January 2004

2003

Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy.
Izzi, C. and Barbon, A. and Toliat, M.R. and Heils, A. and Becker, C. and Nuernberg, P. and Sander, T. and Barlati, S.
American Journal of Medical Genetics B 123B (1): 59-63. 15 November 2003

Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene.
Pilger, U. and Hennies, H.C. and Truschnegg, A. and Aberer, E.
Journal of the American Academy of Dermatology 49 (5 Suppl): S240-S243. November 2003

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Lehmann, K. and Seemann, P. and Stricker, S. and Sammar, M. and Meyer, B. and Suering, K. and Majewski, F. and Tinschert, S. and Grzeschik, K.H. and Mueller, D. and Knaus, P. and Nuernberg, P. and Mundlos, S.
Proceedings of the National Academy of Sciences of the United States of America 100 (21): 12277-12282. 14 October 2003

Distinct methylation profiles of glioma subtypes.
Uhlmann, K. and Rohde, K. and Zeller, C. and Szymas, J. and Vogel, S. and Marczinek, K. and Thiel, G. and Nuernberg, P. and Laird, P.W.
International Journal of Cancer 106 (1): 52-59. 10 August 2003

Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci.
Hensen, P. and Windemuth, C. and Hueffmeier, U. and Rueschendorf, F. and Stadelmann, A. and Hoppe, V. and Fenneker, D. and Staender, M. and Schmitt-Egenolf, M. and Wienker, T.F. and Traupe, H. and Reis, A.
Experimental Dermatology 12 (4): 490-496. August 2003

Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis.
Hensen, P. and Asadullah, K. and Windemuth, C. and Rueschendorf, F. and Hueffmeier, U. and Staender, M. and Schmitt-Egenolf, M. and Wienker, T.F. and Reis, A. and Traupe, H.
British Journal of Dermatology 149 (2): 381-385. August 2003

Association of the G1947A COMT (Val(108/158)Met) gene polymorphism with prefrontal P300 during information processing.
Gallinat, J. and Bajbouj, M. and Sander, T. and Schlattmann, P. and Xu, K. and Ferro, E.F. and Goldman, D. and Winterer, G.
Biological Psychiatry 54 (1): 40-48. 1 July 2003

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.
Ruf, R.G. and Berkman, J. and Wolf, M.T.F. and Nuernberg, P. and Gattas, M. and Ruf, E.M. and Hyland, V. and Kromberg, J. and Glass, I. and Macmillan, J. and Otto, E. and Nuernberg, G. and Lucke, B. and Hennies, H.C. and Hildebrandt, F.
Journal of Medical Genetics 40 (7): 515-519. July 2003

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
Gommans, I.M.P. and Davis, M. and Saar, K. and Lammens, M. and Mastaglia, F. and Lamont, P. and Van Duijnhoven, G. and Ter Laak, H.J. and Reis, A. and Vogels, O.J.M. and Laing, N. and van Engelen, B.G.M. and Kremer, H.
Brain 126 (7): 1545-1551. July 2003

A longitudinal study of age-specific reproductive output and body condition among male rhesus macaques, Macaca mulatta.
Bercovitch, F.B. and Widdig, A. and Trefilov, A. and Kessler, M.J. and Berard, J.D. and Schmidtke, J. and Nuernberg, P. and Krawczak, M.
Naturwissenschaften 90 (7): 309-312. July 2003

Murine susceptibility to Chagas' disease maps to chromosomes 5 and 17.
Graefe, S.E. and Meyer, B.S. and Mueller-Myhsok, B. and Rueschendorf, F. and Drosten, C. and Laue, T. and Steeg, C. and Nuernberg, P. and Fleischer, B.
Genes and Immunity 4 (5): 321-325. July 2003

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.
Gong, M. and Zhang, H.Y. and Schulz, H. and Lee, Y.A. and Sun, K. and Bähring, S. and Luft, F.C. and Nürnberg, P. and Reis, A. and Rohde, K. and Ganten, D. and Hui, R.T. and Hübner, N.
Human Molecular Genetics 12 (11): 1273-1277. 1 June 2003

RETRACTED: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Haug, K. and Warnstedt, M. and Alekov, A.K. and Sander, T. and Ramirez, A. and Poser, B. and Maljevic, S. and Hebeisen, S. and Kubisch, C. and Rebstock, J. and Horvath, S. and Hallmann, K. and Dullinger, J.S. and Rau, B. and Haverkamp, F. and Beyenburg, S. and Schulz, H. and Janz, D. and Giese, B. and Mueller-Newen, G. and Propping, P. and Elger, C.E. and Fahlke, C. and Lerche, H. and Heils, A.
Nature Genetics 33 : 527-532. 1 April 2003

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.
Miller, K. and Pabst, B. and Ritter, H. and Nuernberg, P. and Siebert, R. and Schmidtke, J. and Arslan-Kirchner, M.
Human Genetics 112 (4): 343-347. April 2003

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.
Geier, C. and Perrot, A. and Ozcelik, C. and Binner, P. and Counsell, D. and Hoffmann, K. and Pilz, B. and Martiniak, Y. and Gehmlich, K. and van der Ven, P.F.M. and Furst, D.O. and Vornwald, A. and von Hodenberg, E. and Nuernberg, P. and Scheffold, T. and Dietz, R. and Osterziel, K.J.
Circulation 107 (10): 1390-1395. 18 March 2003

A second large family with catatonic schizophrenia supports the region distally of CHRNA7 on chromosome 15q14-15.
Meyer, J. and Rueschendorf, F. and Lesch, K.P.
Molecular Psychiatry 8 : 259-260. 1 March 2003

Allelic variants of the functional promoter polymorphism of the human serotonin transporter gene is associated with auditory cortical stimulus processing.
Gallinat, J. and Senkowski, D. and Wernicke, C. and Juckel, G. and Becker, I. and Sander, T. and Smolka, M. and Hegerl, U. and Rommelspacher, H. and Winterer, G. and Herrmann, W.M.
Neuropsychopharmacology 28 (3): 530-532. 1 March 2003

Association of EEG coherence and an exonic GABABR1 gene polymorphism.
Winterer, G. and Smolka, M. and Samochowiec, J. and Ziller, M. and Mahlberg, R. and Gallinat, J. and Rommelspacher, H.P. and Herrmann, W.M. and Sander, T.
American Journal of Medical Genetics 117B (1): 51-56. 1 February 2003

Genome scan for childhood and adolescent obesity in German families.
Saar, K. and Geller, F. and Rueschendorf, F. and Reis, A. and Friedel, S. and Schaeuble, N. and Nuernberg, P. and Siegfried, W. and Goldschmidt, H.P. and Schaefer, H. and Ziegler, A. and Remschmidt, H. and Hinney, A. and Hebebrand, J.
Pediatrics 111 (2): 321-327. 1 February 2003

Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.
Raghunath, M. and Hennies, H.C. and Ahvazi, B. and Vogel, M. and Reis, A. and Steinert, P.M. and Traupe, H.
Journal of Investigative Dermatology 120 (2): 224-228. February 2003

47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer.
Emmert, S. and Kuester, W. and Hennies, H.C. and Zutt, M. and Haenssle, H. and Kretschmer, L. and Neumann, C.
European Journal of Dermatology 13 (1): 16-20. 1 January 2003

A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.
Ruf, R.G. and Wolf, M.T.F. and Hennies, H.C. and Lucke, B. and Zinn, C. and Varnholt, V. and Lichtenberger, A. and Pasch, A. and Imm, A. and Briese, S. and Lennert, T. and Fuchshuber, A. and Nuernberg, P. and Hildebrandt, F.
Journal of the American Society of Nephrology 14 (6): 1519-1522. 1 January 2003

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly.
Shultz, L.D. and Lyons, B.L. and Burzenski, L.M. and Gott, B. and Samuels, R. and Schweitzer, P.A. and Dreger, C. and Herrmann, H. and Kalscheuer, V. and Olins, A.L. and Olins, D.E. and Sperling, K. and Hoffmann, K.
Human Molecular Genetics 12 (1): 61-69. 1 January 2003

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Rutsch, F. and Ruf, N. and Vaingankar, S. and Toliat, M.R. and Suk, A. and Hoehne, W. and Schauer, G. and Lehmann, M. and Roscioli, T. and Schnabel, D. and Epplen, J.T. and Knisely, A. and Superti-Furga, A. and McGill, J. and Filippone, M. and Sinaiko, A.R. and Vallance, H. and Hinrichs, B. and Smith, W. and Ferre, M. and Terkeltaub, R. and Nuernberg, P.
Nature Genetics 34 (4): 379-381. 1 January 2003

Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12.
Sander, T. and Windemuth, C. and Schulz, H. and Saar, K. and Gennaro, E. and Riggio, C. and Bianchi, A. and Zara, F. and Rudolf, G. and Picard, F. and Bulteau, C. and Kaminska, A. and Cieuta, C. and Prud'homme, J.F. and Dulac, O. and Bate, L. and Robinson, R. and Gardiner, R.M. and Covanis, A. and de Haan, G.J. and Janssen, G.A.M.A. and van Erp, M.G. and Boezeman, E.H.J.F. and Lindhout, D. and Heils, A. and Nuernberg, P. and Janz, D.
Epilepsia 44 (1): 32-39. January 2003

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
Eckl, K.M. and Stevens, H.P. and Lestringant, G.G. and Westenberger-Treumann, M. and Traupe, H. and Hinz, B. and Frossard, P.M. and Stadler, R. and Leigh, I.M. and Nuernberg, P. and Reis, A. and Hennies, H.C.
Human Genetics 112 (1): 50-56. January 2003

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques.
Toennies, H. and Hennies, H.C. and Spohr, H.L. and Neitzel, H.
Cytogenetic and Genome Research 103 (1-2): 28-33. 2003

2002

Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis.
Uhlmann, K. and Brinckmann, A. and Toliat, M.R. and Ritter, H. and Nuernberg, P.
Electrophoresis 23 (24): 4072-4079. December 2002

Mittel zur Beguenstigung der Knochenbildung und zum Einsatz in der Osteoporose-Therapie [Agent for promoting bone formation and for use in osteoporosis therapy].
Nuernberg, P.
DE10212572A1. 28 November 2002

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
Otto, E. and Hoefele, J. and Ruf, R. and Mueller, A.M. and Hiller, K.S. and Wolf, M.T.F. and Schuermann, M.J. and Becker, A. and Birkenhaeger, R. and Sudbrak, R. and Hennies, H.C. and Nuernberg, P. and Hildebrandt, F.
American Journal of Human Genetics 71 (5): 1161-1167. November 2002

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy.
Sander, T. and Toliat, M.R. and Heils, A. and Leschik, G. and Becker, C. and Rueschendorf, F. and Rohde, K. and Mundlos, S. and Nuernberg, P.
Epilepsy Research 51 (3): 249-255. 1 October 2002

A 4bp-isertion in the eya-Homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.
Pfister, M. and Toth, T. and Thiele, H. and Haack, B. and Blin, N. and Zenner, H.P. and Sziklai, I. and Nuernberg, P. and Kupka, S.
Molecular Medicine 8 (10): 607-611. October 2002

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.
Stoeber, G. and Seelow, D. and Rueschendorf, F. and Ekici, A. and Beckmann, H. and Reis, A.
Human Genetics 111 (4-5): 323-330. October 2002

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures.
Windemuth, C. and Schulz, H. and Saar, K. and Gennaro, E. and Bianchi, A. and Zara, F. and Bulteau, C. and Kaminska, A. and Ville, D. and Cieuta, C. and Nabbout-Tarantino, R. and Prud'homme, J.F. and Dulac, O. and Bate, L. and Gardiner, R.M. and Lindhout, D. and Wienker, T.F. and Janz, D. and Sander, T.
Epilepsy Research 51 (1-2): 23-29. 1 September 2002

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.
Buerger, J. and Horn, D. and Toennies, H. and Neitzel, H. and Reis, A.
American Journal of Medical Genetics A 111 (3): 233-237. 15 August 2002

Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation.
Kuester, W. and Reis, A. and Hennies, H.C.
Archives of Dermatological Research 294 (6): 268-272. August 2002

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly).
Hoffmann, K. and Dreger, C.K. and Olins, A.L. and Olins, D.E. and Shultz, L.D. and Lucke, B. and Karl, H. and Kaps, R. and Mueller, D. and Vaya, A. and Aznar, J. and Ware, R.E. and Cruz, N.S. and Lindner, T.H. and Herrmann, H. and Reis, A. and Sperling, K.
Nature Genetics 31 (4): 410-414. August 2002

V76D mutation in a conserved γD-crystallin region leads to dominant cataracts in mice.
Graw, J. and Loester, J. and Soewarto, D. and Fuchs, H. and Reis, A. and Wolf, E. and Balling, R. and de Angelis, M.H.
Mammalian Genome 13 (8): 452-455. August 2002

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
Kananura, C. and Haug, K. and Sander, T. and Runge, U. and Gu, W. and Hallmann, K. and Rebstock, J. and Heils, A. and Steinlein, O.K.
Archives of Neurology 59 (7): 1137-1141. July 2002

HID and KID syndromes are associated with the same connexin 26 mutation.
Van Geel, M. and Van Steensel, M.A.M. and Kuester, W. and Hennies, H.C. and Happle, R. and Steijlen, P.M. and Koenig, A.
British Journal of Dermatology 146 (2): 938-942. June 2002

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
Al Kateb, H. and Bähring, S. and Hoffmann, K. and Strauch, K. and Busjahn, A. and Nuernberg, G. and Jouma, M. and Bautz, E.K.F. and Dresel, H.A. and Luft, F.C.
Circulation Research 90 (9): 951-958. 17 May 2002

Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36.
Schuermann, M.J. and Otto, E. and Becker, A. and Saar, K. and Rueschendorf, F. and Polak, B.C. and Ala-Mello, S. and Hoefele, J. and Wiedensohler, A. and Haller, M. and Omran, H. and Nuernberg, P. and Hildebrandt, F.
American Journal of Human Genetics 70 (5): 1240-1246. May 2002

Multiple sirehood in free-ranging twin rhesus Macaques (Macaca mulatta).
Bercovitch, F.B. and Widdig, A. and Berard, J.D. and Nuernberg, P. and Kessler, M.J. and Schmidtke, J. and Trefilov, A. and Krawczak, M.
American Journal of Primatology 57 (1): 31-34. May 2002

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Cryns, K. and Pfister, M. and Pennings, R.J.E. and Bom, S.J.H. and Flothmann, K. and Caethoven, G. and Kremer, H. and Schatteman, I. and Koeln, K.A. and Toth, T. and Kupka, S. and Blin, N. and Nuernberg, P. and Thiele, H. and van de Heyning, P.H. and Reardon, W. and Stephens, D. and Cremers, C.W.R.J. and Smith, R.J.H. and Van Camp, G.
Human Genetics 110 (5): 389-394. May 2002

Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure.
Izzi, C. and Barbon, A. and Kretz, R. and Sander, T. and Barlati, S.
American Journal of Medical Genetics 114 : 354-359. 8 April 2002

Modulatoren des ANK-Pyrophosphatkanals fuer die Osteoporose-Therapie [Modulators of the ANK-pyrophosphate channel for use in osteoporosis therapy].
Nuernberg, P.
WO0272079. 12 March 2002

Tandem pore domain K+-channel TASK-3 (KCNK9) and idiopathic absence epilepsies.
Kananura, C. and Sander, T. and Rajan, S. and Preisig-Muller, R. and Grzeschik, K.H. and Daut, J. and Derst, C. and Steinlein, O.K.
American Journal of Medical Genetics 114 : 227-229. 8 March 2002

Linkage analysis between childhood absence epilepsy and genes encoding GABAAand GABA Breceptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q.
Robinson, R. and Taske, N. and Sander, T. and Heils, A. and Whitehouse, W. and Goutieres, F. and Aicardi, J. and Lehesjoki, A.E. and Siren, A. and Friis, M.L. and Kjeldsen, M.J. and Panayiotopoulos, C. and Kennedy, C. and Ferrie, C. and Rees, M. and Gardiner, R.M.
Epilepsy Research 48 : 169-179. 1 February 2002

Affiliation and aggression among adult female rhesus macaques: A genetic analysis of paternal cohorts.
Widdig, A. and Nuernberg, P. and Krawczak, M. and Streich, W.J. and Bercovitch, F.
Behaviour 139 (2-3): 371-391. February 2002

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.
Hampe, J. and Frenzel, H. and Mirza, M.M. and Croucher, P.J. and Cuthbert, A. and Mascheretti, S. and Huse, K. and Platzer, M. and Bridger, S. and Meyer, B. and Nuernberg, P. and Stokkers, P. and Krawczak, M. and Mathew, C.G. and Curran, M. and Schreiber, S.
Proceedings of the National Academy of Sciences of the United States of America 99 (1): 321-326. 8 January 2002

A comprehensive linkage analysis for myocardial infarction and its related risk factors.
Broeckel, U. and Hengstenberg, C. and Mayer, B. and Holmer, S. and Martin, L.J. and Comuzzie, A.G. and Blangero, J. and Nuernberg, P. and Reis, A. and Riegger, G.A.J. and Jacob, H.J. and Schunkert, H.
Nature Genetics 30 : 210-214. 1 January 2002

Exclusion of the neuronal nicotinic acetylcholine receptor alpha 7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus.
Meyer, J. and Ortega, G. and Schraut, K. and Nuernberg, G. and Rueschendorf, F. and Saar, K. and Moessner, R. and Wienker, T.F. and Reis, A. and Stoeber, G. and Lesch, K.P.
Molecular Psychiatry 7 : 220-223. 1 January 2002

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha1A calcium channel gene and common syndromes of idiopathic generalized epilepsy.
Sander, T. and Toliat, M.R. and Heils, A. and Becker, C. and Nuernberg, P.
Epilepsy Research 49 (2): 173-177. 1 January 2002

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.
Sander, T. and Windemuth, C. and Schulz, H. and Saar, K. and Gennaro, E. and Bianchi, A. and Zara, F. and Bulteau, C. and Kaminska, A. and Ville, D. and Cieuta, C. and Prud'homme, J.F. and Dulac, O. and Bate, L. and Gardiner, R.M. and de Haan, G.J. and Janssen, G.A.M.A. and Witte, J. and Halley, D.J.J. and Lindhout, D. and Wienker, T.F. and Janz, D.
American Journal of Medical Genetics 114 : 673-678. 1 January 2002

Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.
Appel, S. and Filter, M. and Reis, A. and Hennies, H.C. and Bergheim, A. and Ogilvie, E. and Arndt, S. and Simmons, A. and Lovett, M. and Hide, W. and Ramsay, M. and Reichwald, K. and Zimmermann, W. and Rosenthal, A.
European Journal of Human Genetics 10 (1): 17-25. 1 January 2002

2001

Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.
Sobetzko, D. and Sander, T. and Becker, C.M.
American Journal of Medical Genetics 105 : 534-538. 8 August 2001

Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.
Appel, S. and Reichwald, K. and Zimmermann, W. and Reis, A. and Rosenthal, A. and Hennies, H.C.
Genomics 75 (1-3): 6-8. July 2001

Limited contribution of interchromosomal gene conversion to NF1 gene mutation.
Luijten, M. and Fahsold, R. and Mischung, C. and Westerveld, A. and Nuernberg, P. and Hulsebos, T.J.
Journal of Medical Genetics 38 (7): 481-485. July 2001

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Betz, R.C. and Schoser, B.G.H. and Kasper, D. and Ricker, K. and Ramirez, A. and Stein, V. and Torbergsen, T. and Lee, Y.A. and Nothen, M.M. and Wienker, T.F. and Malin, J.P. and Propping, P. and Reis, A. and Mortier, W. and Jentsch, T.J. and Vorgerd, M. and Kubisch, C.
Nature Genetics 28 (3): 218-219. July 2001

Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred.
Braun, H.S. and Nuernberg, P. and Tinschert, S.
American Journal of Medical Genetics 101 : 74-77. 1 June 2001

Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy.
Steinlein, O.K. and Neubauer, B.A. and Sander, T. and Song, L. and Stoodt, J. and Mount, D.B.
Epilepsy Research 44 : 191-195. 1 May 2001

Comparative association analysis reveals that corneodesmosin is more closely associated with psoriasis than HLA-Cw*0602-B*5701 in German families.
Schmitt-Egenolf, M. and Windemuth, C. and Hennies, H.C. and Albis-Camps, M. and von Engelhardt, B. and Wienker, T. and Reis, A. and Traupe, H. and Blasczyk, R.
Tissue Antigens 57 (5): 440-446. May 2001

Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II.
Stoeber, G. and Pfuhlmann, B. and Nuernberg, G. and Schmidtke, A. and Reis, A. and Franzek, E. and Wienker, T.F.
European Archives of Psychiatry and Clinical Neuroscience 251 (Suppl 1): I25-I30. May 2001

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
Escayg, A. and Heils, A. and MacDonald, B.T. and Haug, K. and Sander, T. and Meisler, M.H.
American Journal of Human Genetics 68 : 866-873. 1 April 2001

Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques.
Sauermann, U. and Nuernberg, P. and Bercovitch, F.B. and Berard, J.D. and Trefilov, A. and Widdig, A. and Kessler, M. and Schmidtke, J. and Krawczak, M.
Human Genetics 108 (3): 249-254. 7 March 2001

SPINK1 mutations in chronic pancreatitis.
Witt, H. and Hennies, H.C. and Becker, M.
Gastroenterology 120 (4): 1060-1061. March 2001

A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.
Vanita, A. and Singh, J.R. and Sarhadi, V.K. and Singh, D. and Reis, A. and Rueschendorf, F. and Becker-Follmann, J. and Jung, M. and Sperling, K.
American Journal of Human Genetics 68 (2): 509-514. February 2001

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
Leal, A. and Morera, B. and del Valle, G. and Heuss, D. and Kayser, C. and Berghoff, M. and Villegas, R. and Hernandez, E. and Mendez, M. and Hennies, H.C. and Neundoerfer, B. and Barrantes, R. and Reis, A. and Rautenstrauss, B.
American Journal of Human Genetics 68 : 269-274. 1 January 2001

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.
Vanita, V.S. and Sarhadi, V. and Reis, A. and Jung, M. and Singh, D. and Sperling, K. and Singh, J.R. and Buerger, J.
Journal of Medical Genetics 38 : 392-396. 1 January 2001

Aey2, a new mutation in thebetaB2-crystallin-encoding gene of the mouse.
Graw, J. and Loester, J. and Soewarto, D. and Fuchs, H. and Reis, A. and Wolf, E. and Balling, R. and de Angelis, M.H.
Investigative Ophthalmology & Visual Science 42 : 1574-1580. 1 January 2001

Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma.
Niemann, S. and Becker-Follmann, J. and Nuernberg, G. and Rueschendorf, F. and Sieweke, N. and Huegens-Penzel, M. and Traupe, H. and Wienker, T.F. and Reis, A. and Mueller, U.
American Journal of Medical Genetics 98 (1): 32-36. 1 January 2001

Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract.
Graw, J. and Loster, J. and Soewarto, D. and Fuchs, H. and Meyer, B. and Reis, A. and Wolf, E. and Balling, R. and de Angelis, M.H.
Experimental Eye Research 73 (6): 867-876. 1 January 2001

Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene.
Graw, J. and Loester, J. and Soewarto, D. and Fuchs, H. and Meyer, B. and Reis, A. and Wolf, E. and Balling, R. and de Angelis, M.H.
Investigative Ophthalmology & Visual Science 42 : 2909-2915. 1 January 2001

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation.
Vafiadaki, E. and Reis, A. and Keers, S. and Harrison, R. and Anderson, L.V.B. and Raffelsberger, T. and Ivanova, S. and Hoger, H. and Bittner, R.E. and Bushby, K. and Bashir, R.
NeuroReport 12 : 625-629. 1 January 2001

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes.
Toennies, H. and Schulze, I. and Hennies, H.C. and Neumann, L.M. and Keitzer, R. and Neitzel, H.
Journal of Medical Genetics 38 : 617-621. 1 January 2001

Epigenetic targeting in the mouse zygote marks DNA for later methylation: a mechanism for maternal effects in development.
Pickard, B. and Dean, W. and Engemann, S. and Bergmann, K. and Fuermann, M. and Jung, M. and Reis, A. and Allen, N. and Reik, W. and Walter, J.
Mechanisms of Development 103 (1-2): 35-47. 1 January 2001

Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.
Graw, J. and Klopp, N. and Loester, J. and Soewarto, D. and Fuchs, H. and Becker-Follmann, J. and Reis, A. and Wolf, E. and Balling, R. and de Angelis, M.H.
Genetics 157 (3): 1313-1320. 1 January 2001

Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes.
Immervoll, T. and Loesgen, S. and Duetsch, G. and Gohlke, H. and Herbon, N. and Klugbauer, S. and Dempfle, A. and Bickeboeller, H. and Becker-Follmann, J. and Rueschendorf, F. and Saar, K. and Reis, A. and Wichmann, H.E. and Wjst, M.
Human Mutation 18 : 327-336. 1 January 2001

Genetic and clinical heterogeneity in transgressive palmoplantar keratoderma.
Lestringant, G.G. and Frossard, P.M. and Eckl, K.M. and Reis, A. and Hennies, H.C.
Journal of Investigative Dermatology 116 (5): 825-827. 1 January 2001

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nuernberg, P. and Thiele, H. and Chandler, D. and Hoehne, W. and Cunningham, M.L. and Ritter, H. and Leschik, G. and Uhlmann, K. and Mischung, C. and Harrop, K. and Goldblatt, J. and Borochowitz, Z.U. and Kotzot, D. and Westermann, F. and Mundlos, S. and Braun, H.S. and Laing, N. and Tinschert, S.
Nature Genetics 28 (1): 37-41. 1 January 2001

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.
Krebsova, A. and Kuester, W. and Lestringant, G.G. and Schulze, B. and Hinz, B. and Frossard, P.M. and Reis, A. and Hennies, H.C.
American Journal of Human Genetics 69 (1): 216-222. 1 January 2001

Idiopathische Epilepsien mit komplexem Vererbungsmuster.
Neubauer, B. and Sander, T.
Zeitschrift fuer Epileptologie 14 : 109-114. 1 January 2001

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
Bayoumi, R. and Saar, K. and Lee, Y.A. and Nuernberg, G. and Reis, A. and Nur-E-Kamal, M. and Al Gazali, L.I.
Journal of Medical Genetics 38 (6): 369-373. 1 January 2001

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.
Fritz, B. and Aslan, M. and Kalscheuer, V. and Ramsing, M. and Saar, K. and Fuchs, B. and Rehder, H.
European Journal of Human Genetics 9 : 910-916. 1 January 2001

Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).
Varon, R. and Reis, A. and Henze, G. and von Einsiedel, H.G. and Sperling, K. and Seeger, K.
Cancer Research 61 : 3570-3572. 1 January 2001

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann, K. and Schuelke, M. and Diers, A. and Hoffmann, K. and Lucke, B. and Adams, C. and Bertini, E. and Leonhardt-Horti, H. and Muntoni, F. and Ouvrier, R. and Pfeufer, A. and Rossi, R. and Van Maldergem, L. and Wilmshurst, J.M. and Wienker, T.R. and Sendtner, M. and Rudnik-Schoeneborn, S. and Zerres, K. and Huebner, C.
Nature Genetics 29 (1): 75-77. 1 January 2001

Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques.
Widdig, A. and Nuernberg, P. and Krawczak, M. and Streich, W.J. and Bercovitch, F.B.
Proceedings of the National Academy of Sciences of the United States of America 98 (24): 13769-13773. 1 January 2001

Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.
Chandler, D. and Tinschert, S. and Lohan, K. and Harrop, K. and Goldblatt, J. and Nagy, M. and Hummel, S. and Braun, H.S. and Laing, N. and Nuernberg, P.
Human Genetics 108 : 394-397. 1 January 2001

Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.
Fuchshuber, A. and Kroiss, S. and Karle, S. and Berthold, S. and Huck, K. and Burton, C. and Rahman, N. and Koptides, M. and Deltas, C. and Otto, E. and Rueschendorf, F. and Feest, T. and Hildebrandt, F.
Genomics 72 (3): 278-284. 1 January 2001

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
Hunt, D.M. and Rickman, L. and Whittock, N.V. and Eady, R.A. and Simrak, D. and Dopping-Hepenstal, P.J.C. and Stevens, H.P. and Armstrong, D.K.B. and Hennies, H.C. and Kuster, W. and Hughes, A.E. and Arnemann, J. and Leigh, I.M. and McGrath, J.A. and Kelsell, D.P. and Buxton, R.S.
European Journal of Human Genetics 9 (3): 197-203. 1 January 2001

2000

A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.
Lee, Y.A. and Wahn, U. and Kehrt, R. and Tarani, L. and Businco, L. and Gustafsson, D. and Andersson, F. and Oranje, A.P. and Wolkertstorfer, A. and von Berg, A. and Hoffmann, U. and Kuester, W. and Wienker, T.F. and Rueschendorf, F. and Reis, A.
Nature Genetics 26 : 470-473. 1 December 2000

Childhood all blasts retain phenotypic and genotypic characteristics upon long-term serial passage in NOD/SCID mice.
Borgmann, A. and Baldy, C. and von Stackelberg, A. and Beyermann, B. and Fichtner, I. and Nuernberg, P. and Henze, G.
Pediatric Hematology and Oncology 17 (8): 635-650. 1 December 2000

Exonic variants of the GABAB receptor gene and panic disorder.
Sand, P.G. and Godau, C. and Riederer, P. and Peters, C. and Franke, P. and Noethen, M.M. and Stober, G. and Fritze, J. and Maier, W. and Propping, P. and Lesch, K.P. and Riess, O. and Sander, T. and Beckmann, H. and Deckert, J.
Psychiatric Genetics 10, 4 : 191-194. 1 December 2000

Kartierung und molekulare Analyse erblicher Hautkrankheiten. Stand der Forschung [Mapping and molecular analysis of genodermatoses - an up-date].
Kuester, W. and Hennies, H.C. and Happle, R.
Hautarzt 51 (12): 906-914. December 2000

Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man.
Winterer, G. and Smolka, M. and Smochowiec, J. and Mulert, C. and Ziller, M. and Mahlberg, R. and Wuebben, Y. and Gallinat, J. and Rommelspacher, H. and Herrman, W.M. and Sander, T.
Human Genetics 107 : 513-518. 1 November 2000

No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy.
Haug, K. and Hallmann, K. and Horvath, S. and Sander, T. and Kubisch, C. and Rau, B. and Dullinger, J. and Beyenburg, S. and Elger, C.E. and Propping, P. and Heils, A.
Epilepsy Research 42 : 57-62. 1 November 2000

Splitting schizophrenia: Periodic catatonia-susceptibility locus on chromosome 15q15.
Stoeber, G. and Saar, K. and Rueschendorf, F. and Meyer, J. and Nuernberg, G. and Jatzke, S. and Franzek, E. and Reis, A. and Lesch, K.P. and Wienker, T.F. and Beckmann, H.
American Journal of Human Genetics 67 : 1201-1207. 1 November 2000

Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13.
Krebsova, A. and Hamm, H. and Karl, S. and Reis, A. and Hennies, H.C.
Journal of Investigative Dermatology 115 (4): 664-667. 1 October 2000

Genomewide scan in German families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13.
Lee, Y.A. and Rueschendorf, F. and Windemuth, C. and Schmitt-Egenolf, M. and Stadelmann, A. and Nuernberg, G. and Staender, M. and Wienker, T.F. and Reis, A. and Traupe, H.
American Journal of Human Genetics 67 (4): 1020-1024. 1 October 2000

Molekulare Diagnostik erblicher neurologischer Erkrankungen. Positionspapier.
Gasser, T. and Dichgans, M. and Jurkat-Rott, K. and Klockgether, T. and Klopstock, T. and Kretzschmar, H. and Lehmann-Horn, F. and Reichmann, H. and Rolfs, A. and Sander, T. and Stoegbauer, F.
Nervenarzt 71 : 774-796. 1 October 2000

The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy.
Haug, K. and Sander, T. and Hallmann, K. and Rau, B. and Dullinger, J.S. and Elger, C.E. and Propping, P. and Heils, A.
NeuroReport 11 : 2687-2689. 21 August 2000

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.
de Angelis, M.H. and Flaswinkel, H. and Fuchs, H. and Rathkolb, B. and Soewarto, D. and Marschall, S. and Heffner, S. and Pargent, W. and Wuensch, K. and Jung, M. and Reis, A. and Richter, T. and Alessandrini, F. and Jakob, T. and Fuchs, E. and Kolb, H. and Kremmer, E. and Schaeble, K. and Rollinski, B. and Roscher, A. and Peters, C. and Meitinger, T. and Strom, T. and Steckler, T. and Holsboer, F. and Klopstock, T. and Gekeler, F. and Schindewolf, C. and Jung, T. and Avraham, K. and Behrendt, H. and Ring, J. and Zimmer, A. and Schughart, K. and Pfeffer, K. and Wolf, E. and Balling, R.
Nature Genetics 25 : 444-447. 1 August 2000

Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.
Bosse, K. and Betz, R.C. and Lee, Y.A. and Wienker, T.F. and Reis, A. and Kleen, H. and Propping, P. and Cichon, S. and Noethen, M.M.
American Journal of Human Genetics 67 : 492-497. 1 August 2000

Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy.
Haug, K. and Kremerskothen, J. and Hallmann, K. and Sander, T. and Dullinger, J. and Rau, B. and Beyenburg, S. and Lentze, M.J. and Barnekow, A. and Elger, C.E. and Propping, P. and Heils, A.
Molecular and Cellular Probes 14 : 255-260. 1 August 2000

Variation of the genes encoding the human glutamate EAAT2, serotonin and dopamine transporters and susceptibility to idiopathic generalized epilepsy.
Sander, T. and Berlin, W. and Ostapowicz, A. and Samochowiec, J. and Gscheidel, N. and Hoehe, M.R.
Epilepsy Research 41 (1): 75-81. 1 August 2000

hKCNN3 which maps to chromosome 1q21 is not the causative gene in periodic catatonia, a familial subtype of schizophrenia.
Stoeber, G. and Meyer, J. and Nanda, I. and Wienker, T.F. and Saar, K. and Jatzke, S. and Schmid, M. and Lesch, K.P. and Beckmann, H.
European Archives of Psychiatry and Clinical Neuroscience 250 (4): 163-168. 1 August 2000

Genetics of atopy in a mouse model: polymorphism of the IL-5 receptor α chain.
Daser, A. and Koetz, K. and Batjer, N. and Jung, M. and Rueschendorf, F. and Goltz, M. and Ellerbrok, H. and Renz, H. and Walter, J. and Paulsen, M.
Immunogenetics 51 (8): 632-638. July 2000

Genome search for susceptibility loci of common idiopathic generalised epilepsies.
Sander, T. and Schulz, H. and Saar, K. and Gennaro, E. and Riggio, M.C. and Bianchi, A. and Zara, F. and Luna, D. and Bulteau, C. and Kaminska, A. and Ville, D. and Cieuta, C. and Picard, F. and Prud'-homme, J.F. and Bate, L. and Sundquist, A. and Gardiner, R.M. and Janssen, G.A.M.A. and de Haan, G.J. and Kasteleijn-Nolst-Trenite, D.G.A. and Bader, A. and Lindhout, D. and Riess, O. and Wienker, T.F. and Janz, D. and Reis, A.
Human Molecular Genetics 9 : 1465-1472. 12 June 2000

Linkage and family-based association study of schizophrenia and the synapsin III locus that maps to chromosome 22q13.
Stoeber, G. and Meyer, J. and Nanda, I. and Wienker, T.F. and Saar, K. and Knapp, M. and Jatzke, S. and Schmid, M. and Lesch, K.P. and Beckmann, H.
American Journal of Medical Genetics 96 (3): 392-397. 12 June 2000

Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity.
Horn, D. and Krebsova, A. and Kunze, J. and Reis, A.
American Journal of Medical Genetics 92 (4): 285-292. 5 June 2000

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
Betz, R.C. and Lee, Y.A. and Bygum, A. and Brandrup, F. and Bernal, A.I. and Toribio, J. and Alvarez, J.I. and Kukuk, G.M. and Ibsen, H.H.W. and Rasmussen, H.B. and Wienker, T.F. and Reis, A. and Propping, P. and Kruse, R. and Cichon, S. and Noethen, M.M.
American Journal of Human Genetics 66 : 1979-1983. 1 June 2000

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.
Kroiss, S. and Huck, K. and Berthold, S. and Rueschendorf, F. and Scolari, F. and Caridi, G. and Ghiggeri, G.M. and Hildebrant, F. and Fuchshuber, A.
Nephrology Dialysis Transplantation 15 (6): 818-821. 1 June 2000

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
Weber, S. and Hoffmann, K. and Jeck, N. and Saar, K. and Boeswald, M. and Kuwertz-Broeking, E. and Meij, I.C. and Knoers, N.V.A.M. and Cochat, P. and Sulakova, T. and Bonzel, K.E. and Soergel, M. and Manz, F. and Schaerer, K. and Seyberth, H.W. and Reis, A. and Konrad, M.
European Journal of Human Genetics 8 : 414-422. 1 June 2000

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
Witt, H. and Luck, W. and Hennies, H.C. and Classen, M. and Kage, A. and Lass, U. and Landt, O. and Becker, M.
Nature Genetics 25 (2): 213-216. 1 June 2000

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.
Jenne, D.E. and Tinschert, S. and Stegmann, E. and Reimann, H. and Nuernberg, P. and Horn, D. and Naumann, I. and Buske, A. and Thiel, G.
Genomics 66 : 93-97. 15 May 2000

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
Escayg, A. and De Waard, M. and Lee, D.D. and Bichet, D. and Wolf, P. and Mayer, T. and Johnston, J. and Baloh, R. and Sander, T. and Meisler, M.H.
American Journal of Human Genetics 66 (5): 1531-1539. 1 May 2000

Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy.
Haug, K. and Sander, T. and Hallmann, K. and Lentze, M.J. and Propping, P. and Elger, C.E. and Heils, A.
Epilepsy Research 39 : 127-132. 1 April 2000

Evaluation of an allelic association of the serotonin 5-HT1B G681C polymorphism with antisocial alcoholism in the German population.
Sander, T. and Ostapowicz, A. and Samochowiec, J. and Smolka, M. and Rommelspacher, H. and Winterer, G. and Schmidt, L.G.
Addiction Biology 5 (2): 167-172. April 2000

Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria.
Langen, H. and von Kietzell, D. and Byrd, D. and Arslan-Kirchner, M. and Vester, U. and Stuhrmann, M. and Doerk, T. and Saar, K. and Reis, A. and Schmidtke, J. and Brodehl, J.
Pediatric Nephrology 14 (5): 376-384. April 2000

Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy.
Sander, T. and Berlin, W. and Gscheidel, N. and Wendel, B. and Janz, D. and Hoehe, M.R.
Epilepsy Research 39 (1): 57-61. 1 March 2000

Genetics of alcohol withdrawal.
Schmidt, L.G. and Sander, T.
European Psychiatry 15 : 135-139. 1 March 2000

Mapping genes for polygenic disorders: considerations for study design in the complex trait of inflammatory bowel disease.
Hampe, J. and Wienker, T. and Nuernberg, P. and Schreiber, S.
Human Heredity 50 : 91-101. 1 March 2000

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold, R. and Hoffmeyer, S. and Mischung, C. and Gille, C. and Ehlers, C. and Kuecuekceylan, N. and Abdel-Nour, M. and Gewies, A. and Peters, H. and Kaufmann, D. and Buske, A. and Tinschert, S. and Nuernberg, P.
American Journal of Human Genetics 66 (3): 790-818. March 2000

Mutation analysis of the inwardly rectifying K+ channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy.
Hallmann, K. and Durner, M. and Sander, T. and Steinlein, O.K.
American Journal of Medical Genetics 96 : 8-11. 7 February 2000

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.
Toliat, M.R. and Erdogan, F. and Gewies, A. and Fahsold, R. and Buske, A. and Tinschert, S. and Nuernberg, P.
Electrophoresis 21 : 541-544. 1 February 2000

Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21).
Kunst, H. and Marres, H. and Huygen, P. and Van Duijnhoven, G. and Krebsova, A. and Van der Velde, S. and Reis, A. and Cremers, F. and Cremers, C.
Clinical Otolaryngology 25 : 45-54. 1 February 2000

A European study on the genetics of mite sensitization.
Kurz, T. and Strauch, K. and Heinzmann, A. and Braun, S. and Jung, M. and Rueschendorf, F. and Moffatt, M.F. and Cookson, W.O.C.M. and Inacio, F. and Ruffilli, A. and Nordskov-Hansen, G. and Peltre, G. and Forster, J. and Kuehr, J. and Reis, A. and Wienker, T.F. and Deichmann, K.A.
Journal of Allergy and Clinical Immunology 106 (5): 925-932. 1 January 2000

A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez Syndrome) maps to chromosome 4q23.
Lee, Y.A. and Stevens, H.P. and Delaporte, E. and Wahn, U. and Reis, A.
American Journal of Human Genetics 66 : 326-330. 1 January 2000

DRD4 exon III VNTR polymorphism-susceptibility factor for heroin dependence? Results of a case-control and a family-based association approach.
Franke, P. and Noethen, M.M. and Wang, T. and Knapp, M. and Lichtermann, D. and Neidt, H. and Sander, T. and Propping, P. and Maier, W.
Molecular Psychiatry 5, 1 : 101-104. 1 January 2000

Different allele distribution of a regulatory MAOA gene promoter polymorphism in antisocial and anxious-depressive alcoholics.
Schmidt, L.G. and Sander, T. and Kuhn, S. and Smolka, M. and Rommelspacher, H. and Samochowiec, J. and Lesch, K.P.
Journal of Neural Transmission 107 : 681-689. 1 January 2000

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large venezuelan pedigree.
Omran, H. and Fernandez, C. and Jung, M. and Haeffner, K. and Fargier, B. and Villaquiran, A. and Waldherr, R. and Gretz, N. and Brandis, M. and Rueschendorf, F. and Reis, A. and Hildebrandt, F.
American Journal of Human Genetics 66 (1): 118-127. 1 January 2000

Five exon 1 variants of mu opioid receptor and vulnerability to alcohol dependence.
Gscheidel, N. and Sander, T. and Wendel, B. and Heere, P. and Schmidt, L.G. and Rommelspacher, H. and Hoehe, M.R. and Samochowiec, J.
Polish Journal of Pharmacology 52 (1): 27-31. January 2000

Genkartierung in Isolatpopulationen.
Hoffmann, K. and Stassen, H.H. and Reis, A.
Medizinische Genetik 12 (4): 428-437. 2000

1999

Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.
Harder, A. and Jendroska, K. and Kreuz, F. and Wirth, T. and Schafranka, C. and Karnatz, N. and Theallier-Janko, A. and Dreier, J. and Lohan, K. and Emmerich, D. and Cervos-Navarro, J. and Windl, O. and Kretzschmar, H.A. and Nuernberg, P. and Witkowski, R.
American Journal of Medical Genetics 87 : 311-316. 3 December 1999

A novel missense mutation 14259 G>A in the mitochondrial NADH dehydrogenase 6 gene (MTND6).
Aguilera, I. and Garcia-Lozano, J.R. and Bautista, J. and Nunez-Roldan, A.
Human Mutation 13 : 259. 1 December 1999

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.
Saar, K. and Al-Gazali, L. and Sztriha, L. and Rueschendorf, F. and Nur-E-Kamal, M. and Reis, A. and Bayoumi, R.
American Journal of Human Genetics 65 : 1666-1671. 1 December 1999

Mutation in the beta A3/A1-crystallin encoding geneCryba1 causes a dominant cataract in the mouse.
Graw, J. and Jung, M. and Loester, J. and Klopp, N. and Soewarto, D. and Fella, C. and Fuchs, H. and Reis, A. and Wolf, E. and Balling, R. and de Angelis, M.H.
Genomics 62 (1): 67-73. 15 November 1999

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21.
Grohmann, K. and Wienker, T.F. and Saar, K. and Rudnik-Schoeneborn, S. and Stoltenburg-Didinger, G. and Rossi, R. and Novelli, G. and Nuernberg, G. and Pfeufer, A. and Wirth, B. and Reis, A. and Zerres, K. and Huebner, C.
American Journal of Human Genetics 65 : 1459-1462. 1 November 1999

Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).
Buske, A. and Gewies, A. and Lehmann, R. and Ruether, K. and Algermissen, B. and Nuernberg, P. and Tinschert, S.
American Journal of Medical Genetics 86 : 328-330. 8 October 1999

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
Bittner, R.E. and Anderson, L.V.B. and Burkhardt, E. and Bashir, R. and Vafiadaki, E. and Ivanova, S. and Raffelsberger, T. and Maerk, I. and Hoeger, H. and Jung, M. and Karbasiyan, M. and Storch, M. and Lassmann, H. and Moss, J.A. and Davison, K. and Harrison, R. and Bushby, K.M.D. and Reis, A.
Nature Genetics 23 : 141-142. 1 October 1999

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak, K.J. and Wattanasirichaigoon, D. and Goebel, H.H. and Wilce, M. and Pelin, K. and Donner, K. and Jacob, R.L. and Huebner, C. and Oexle, K. and Anderson, J.R. and Verity, C.M. and North, K.N. and Iannaccone, S.T. and Mueller, C.R. and Nuernberg, P. and Muntoni, F. and Sewry, C. and Hughes, I. and Sutphen, R. and Lacson, A.G. and Swoboda, K.J. and Vigneron, J. and Wallgren-Pettersson, C. and Beggs, A.H. and Laing, N.G.
Nature Genetics 23 : 208-212. 1 October 1999

Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.
Jung, M. and Poepping, I. and Perrot, A. and Ellmer, A.E. and Wienker, T.F. and Dietz, R. and Reis, A. and Osterziel, K.J.
American Journal of Human Genetics 65 (4): 1068-1077. October 1999

Genetic dissection of X-linked interspecific hybrid placental dysplasia in congenic mouse strains.
Hemberger, M.C. and Pearsall, R.S. and Zechner, U. and Orth, A. and Otto, S. and Rueschendorf, F. and Fundele, R. and Elliott, R.
Genetics 153 : 383-390. 1 September 1999

Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): The integration of genetic and physical maps of the TOC region on 17q25.
Risk, J.M. and Ruhrberg, C. and Hennies, H.C. and Mills, H.S. and Di Colandrea, T. and Evans, K.E. and Ellis, A. and Watt, F.M. and Bishop, D.T. and Spurr, N.K. and Stevens, H.P. and Leigh, I.M. and Reis, A. and Kelsell, D.P. and Field, J.K.
Genomics 59 : 234-242. 15 July 1999

Changes in methylation patterns identified by two-dimensional DNA fingerprinting.
Uhlmann, K. and Marczinek, K. and Hampe, J. and Thiel, G. and Nuernberg, P.
Electrophoresis 20 : 1748-1755. 1 June 1999

Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia.
Stevens, H.P. and Choon, S.E. and Hennies, H.C. and Kelsell, D.P.
British Journal of Dermatology 140 (5): 963-964. 24 May 1999

A genome-wide search for linkage to asthma.
Wjst, M. and Fischer, G. and Immervoll, T. and Jung, M. and Saar, K. and Rueschendorf, F. and Reis, A. and Ulbrecht, M. and Gomolka, M. and Weiss, E.H. and Jaeger, L. and Nickel, R. and Richter, K. and Kjellman, N.I.M. and Griese, M. and von Berg, A. and Gappa, M. and Riedel, F. and Boehle, M. and van Koningsbruggen, S. and Schoberth, P. and Szczepanski, R. and Dorsch, W. and Silbermann, M. and Loesgen, S. and Scholz, M. and Bickeboller, H. and Wichmann, H.E.
Genomics 58 (1): 1-8. 15 May 1999

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
Waisfisz, Q. and Saar, K. and Morgan, N.V. and Altay, C. and Leegwater, P.A. and de Winter, J.P. and Komatsu, K. and Evans, G.R. and Wegner, R.D. and Reis, A. and Joenje, H. and Arwert, F. and Mathew, C.G. and Pronk, J.C. and Digweed, M.
American Journal of Human Genetics 64 : 1400-1405. 1 May 1999

Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14.
Sander, T. and Schulz, H. and Vieira-Saeker, A.M.M. and Bianchi, A.M. and Sailer, U. and Bauer, G. and Scaramelli, A. and Wienker, T.F. and Saar, K. and Reis, A. and Janz, D. and Epplen, J.T. and Riess, O.
American Journal of Medical Genetics 88 : 182-187. 16 April 1999

Promoter polymorphism at -238 of the tumor necrosis factor alpha gene is not associated with early onset psoriasis when tested by the transmission disequilibrium test.
Jacob, N. and Rueschendorf, F. and Schmitt-Egenolf, M. and Hennies, H.C. and Friedl, G. and Stander, M. and Wienker, T.F. and Reis, A. and Traupe, H.
Journal of Investigative Dermatology 112 : 514-515. 1 April 1999

McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.
Tinschert, S. and Gerl, H. and Gewies, A. and Jung, H.P. and Nuernberg, P.
American Journal of Medical Genetics 83 : 100-108. 12 March 1999

Two independent mutations in a family with neurofibromatosis type 1 (NF1).
Klose, A. and Peters, H. and Hoffmeyer, S. and Buske, A. and Lueder, A. and Hess, D. and Lehmann, R. and Nuernberg, P. and Tinschert, S.
American Journal of Medical Genetics 83 : 6-12. 5 March 1999

A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort.
Hampe, J. and Schreiber, S. and Shaw, S.H. and Lau, K.F. and Bridger, S. and Macpherson, A.J. and Cardon, L.R. and Sakul, H. and Harris, T.J. and Buckler, A. and Hall, J. and Stokkers, P. and van Deventer, S.J. and Nuernberg, P. and Mirza, M.M. and Lee, J.C. and Lennard-Jones, J.E. and Mathew, C.G. and Curran, M.E.
American Journal of Human Genetics 64 (3): 808-816. March 1999

Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.
van Bokhoven, H. and Jung, M. and Smits, A.P.T. and van Beersum, S. and Rueschendorf, F. and van Steensel, M. and Veenstra, M. and Tuerlings, J.H.A.M. and Mariman, E.C.M. and Brunner, H.G. and Wienker, T.F. and Reis, A. and Ropers, H.H. and Hamel, B.C.J.
American Journal of Human Genetics 64 (2): 538-546. February 1999

Hereditary isolated renal magnesium loss maps to chromosome 11q23.
Meij, I.C. and Saar, K. and van den Heuvel, L.P.W.J. and Nuernberg, G. and Vollmer, M. and Hildebrandt, F. and Reis, A. and Monnens, L.A.H. and Knoers, N.V.A.M.
American Journal of Human Genetics 64 : 180-188. 1 January 1999

1998

The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster.
Vollmer, M. and Jung, M. and Rueschendorf, F. and Ruf, R. and Wienker, T.F. and Reis, A. and Krapf, R. and Hildebrandt, F.
American Journal of Human Genetics 63 (6): 1724-1731. December 1998

Localisation of a Fanconi anaemia gene to chromosome 9p.
Saar, K. and Schindler, D. and Wegner, R.D. and Reis, A. and Wienker, T.F. and Hoehn, H. and Joenje, H. and Sperling, K. and Digweed, M.
European Journal of Human Genetics 6 : 501-508. 1 September 1998

Die kleine Fehlbildung des Mittelohres - ein genetisch bedingter Defekt?
Thies, C. and Sperling, K. and Reis, A. and Handrock, M.
HNO 46 : 757-761. 1 August 1998

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta 1 subunit gene SCN1B.
Wallace, R.H. and Wang, D.W. and Singh, R. and Scheffer, I.E. and George, A.L. and Phillips, H.A. and Saar, K. and Reis, A. and Johnson, E.W. and Sutherland, G.R. and Berkovic, S.F. and Mulley, J.C.
Nature Genetics 19 (4): 366-370. 1 August 1998

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
Klose, A. and Ahmadian, M.R. and Schuelke, M. and Scheffzek, K. and Hoffmeyer, S. and Gewies, A. and Schmitz, F. and Kaufmann, D. and Peters, H. and Wittinghofer, A. and Nuernberg, P.
Human Molecular Genetics 7 (8): 1261-1268. August 1998

Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis.
Gille, C. and Gille, A. and Booms, P. and Robinson, P.N. and Nuernberg, P.
Electrophoresis 19 : 1347-1350. 1 June 1998

Genomic difference analysis by two-dimensional DNA fingerprinting reveals typical changes in human low-grade gliomas.
Marczinek, K. and Hampe, J. and Uhlmann, K. and Thiel, G. and Barth, I. and Mrowka, R. and Vogel, S. and Nuernberg, P.
Glia 23 : 130-138. 1 June 1998

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Varon, R. and Vissinga, C. and Platzer, M. and Cerosaletti, K.M. and Chrzanowska, K.H. and Saar, K. and Beckmann, G. and Seemanova, E. and Cooper, P.R. and Nowak, N.J. and Stumm, M. and Weemaes, C.M.R. and Gatti, R.A. and Wilson, R.K. and Digweed, M. and Rosenthal, A. and Sperling, K. and Concannon, P. and Reis, A.
Cell 93 (3): 467-476. 1 May 1998

Remote suturing for percutaneous closure of popliteal artery access.
Hoffmann, K. and Schott, U. and Erb, M. and Albes, J. and Claussen, C.D. and Duda, S.H.
Catheterization and Cardiovascular Diagnosis 43 : 477-482. 1 April 1998

Gene localization for an autosomal dominant familial periodic fever to 12p13.
Mulley, J. and Saar, K. and Hewitt, G. and Rueschendorf, F. and Phillips, H. and Colley, A. and Sillence, D. and Reis, A. and Wilson, M.
American Journal of Human Genetics 62 (4): 884-889. April 1998

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
Hoffmeyer, S. and Nuernberg, P. and Ritter, H. and Fahsold, R. and Leistner, W. and Kaufmann, D. and Krone, W.
American Journal of Human Genetics 62 (2): 269-277. 6 February 1998

POPSIM: a general population simulation program.
Hampe, J. and Wienker, T.F. and Schreiber, S. and Nuernberg, P.
Bioinformatics 14 : 458-464. 1 January 1998

Paternity assessment in rhesus macaques (Macaca mulatta): multilocus DNA fingerprinting and PCR marker typing.
Nuernberg, P. and Sauermann, U. and Kayser, M. and Lanfer, C. and Manz, E. and Widdig, A. and Berard, J. and Bercovitch, F.B. and Kessler, M. and Schmidtke, J. and Krawczak, M.
American Journal of Primatology 44 : 1-18. 1 January 1998

1997

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone receptor gene.
Nuernberg, P. and Tinschert, S. and Mrug, M. and Hampe, J. and Mueller, C.R. and Fuhrmann, E. and Braun, H.S. and Reis, A.
American Journal of Human Genetics 61 (4): 918-923. October 1997

Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in south african afrikaans-speakers.
Starfield, M. and Hennies, H.C. and Jung, M. and Jenkins, T. and Wienker, T.F. and Hull, P. and Spurdle, A. and Kuester, W. and Ramsay, M. and Reis, A.
American Journal of Human Genetics 61 (2): 370-378. August 1997

A genome wide search for susceptibility loci in three european malignant hyperthermia pedigrees.
Robinson, R.I. and Monnier, N. and Wolz, W. and Jung, M. and Reis, A. and Nuernberg, G. and Curran, J.L. and Monsieurs, K. and Stieglitz, P. and Heytens, L. and Fricker, R. and Vanbroeckhoven, C. and Deufel, T. and Hopkins, P.M. and Lunardi, J. and Mueller, C.R.
Human Molecular Genetics 6 (6): 953-961. June 1997

The gene for the ataxia telangiectasia variant, nijmegen breakage syndrome, maps to a 1 cm interval on chromosome 8q21.
Saar, K. and Chrzanowska, K.H. and Stumm, M. and Jung, M. and Nuernberg, G. and Wienker, T.F. and Seemanova, E. and Wegner, R.D. and Reis, A. and Sperling, K.
American Journal of Human Genetics 60 (3): 605-610. March 1997

Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.
Chrzanowska, K. and Stumm, M. and Bialecka, M. and Saar, K. and Bernatowska-Matuszkiewicz, E. and Michalkiewicz, J. and Barszcz, S. and Reis, A. and Wegner, R.D.
Clinical Genetics 51 : 309-313. 1 January 1997

Localisation of a gene for Papillon-Lefevre syndrome to chromosome 11q14-q21 by homozygosity mapping.
Laass, M.W. and Hennies, H.C. and Preis, S. and Stevens, H.P. and Jung, M. and Leigh, I.M. and Wienker, T.F. and Reis, A.
Human Genetics 101 : 376-382. 1 January 1997

1996

Linkage of the gene for the triple a syndrome to chromosome 12q13 near the type II keratin gene cluster.
Weber, A. and Wienker, T.F. and Jung, M. and Easton, D. and Dean, H.J. and Heinrichs, C. and Reis, A. and Clark, A.J.L.
Human Molecular Genetics 5 (12): 2061-2066. 1 December 1996

Amelioration of pulmonary allograft injury by administering a second rinse solution.
Serrick, C.J. and Jamjoum, A. and Reis, A. and Giaid, A. and Shennib, H.
Journal of Thoracic and Cardiovascular Surgery 112 : 1010-1016. 1 October 1996

Peritoneal leak and chronic pericardial effusion in a CAPD patient.
Naether, S. and Anger, H. and Koall, W. and Reis, A. and Mukhtar, B. and Grimm, C. and Drescher, J. and Osten, B.
Nephrology Dialysis Transplantation 11 : 1155-1158. 1 June 1996

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.
Buerger, J. and Metzke, H. and Paternotte, C. and Schilling, F. and Hazan, J. and Reis, A.
Human Genetics 98 : 371-375. 1 January 1996

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).
Kelsell, D.P. and Risk, J.M. and Leigh, I.M. and Stevens, H.P. and Ellis, A. and Hennies, H.C. and Reis, A. and Weissenbach, J. and Bishop, D.T. and Spurr, N.K. and Field, J.K.
Human Molecular Genetics 5 : 857-860. 1 January 1996

Microsatellite haplotypes of Polish cystic fibrosis alleles: deltaF508 chromosomes demonstrate a North-South haplotype frequency gradient.
Witt, M. and Reis, A. and Cichy, W. and Dziechciowska, K.
Human Heredity 46 : 310-314. 1 January 1996

Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.
Buerger, J. and Kunze, J. and Sperling, K. and Reis, A.
American Journal of Medical Genetics 66 : 221-226. 1 January 1996

Hemossiderose pulmonar idiopatica [Idiopathic pulmonary hemosiderosis].
Pinto, M. and Correia, J. and Leal, I. and Reis, A. and Leao, B. and de Carvalho, S. and Sousa, C.S.
Acta Medica Portuguesa 9 : 41-44. 1996

1995

The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.
Stumm, M. and Gatti, R.A. and Reis, A. and Udar, N. and Chrzanowska, K. and Seemanova, E. and Sperling, K. and Wegner, R.D.
American Journal of Human Genetics 57 (4): 960-962. October 1995

Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster.
Hennies, H.C. and Hagedorn, M. and Reis, A.
Genomics 29 : 537-540. 20 September 1995

Adequacao de marcapasso com resposta de frequencia por volume-minuto respiratorio em pacientes submetidos a transplante cardiaco. [Adequacy of of pacemakers responsive to the volume-minute ventilation rate in heart transplantation patients].
Sant'Anna, J.R. and Castro, I. and Lima, L.L. and Reis, A. and Kalil, R.A.K. and Prates, P.R. and Lucchese, F.A. and Halperin, C. and Pereira, E. and Rodrigues, R. and Nesralla, I.A.
Arquivos Brasileiros de Cardiologia 64 : 547-552. 1 June 1995

Improved outcome of rat lung transplantation with modification of the nonsuture external cuff technique.
Reis, A. and Giaid, A. and Serrick, C. and Shennib, H.
Journal of Heart and Lung Transplantation 14 : 274-279. 1 March 1995

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.
Hennies, H.C. and Kuester, W. and Mischke, D. and Reis, A.
Human Molecular Genetics 4 : 1015-1020. 1 January 1995

Plasma endothelin-1 levels in human lung transplant recipients.
Shennib, H. and Serrick, C. and Saleh, D. and Reis, A. and Stewart, D.J. and Giaid, A.
Journal of Cardiovascular Pharmacology 26 Suppl 3 : S516-S518. 1 January 1995

Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
Varon, R. and Magdorf, K. and Staab, D. and Wahn, H.U. and Krawczak, M. and Sperling, K. and Reis, A.
Human Molecular Genetics 4 : 1463-1464. 1 January 1995

1994

Mutations in the pyruvate kinase L-gene in patients with hereditary hemolytic anemia.
Lenzner, C. and Nuernberg, P. and Thiele, B.J. and Reis, A. and Brabec, V. and Sakalova, A. and Jacobasch, G.
Blood 83 (10): 2817-2822. 15 May 1994

Trinucleotide repeat polymorphism at the PKLR locus.
Lenzner, C. and Jacobasch, G. and Reis, A. and Thiele, B. and Nuernberg, P.
Human Molecular Genetics 3 : 523-523. 1 January 1994