Browse by Research Team

Acta Medica Portuguesa

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

Addiction Biology

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

Allergy

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., Altmueller, J., Strauch, K., Rueschendorf, F., Heinzmann, A., Moffatt, M.F., Cookson, W.O.C.M., Inacio, F., Nuernberg, P., Stassen, H.H. and Deichmann, K.A.
Allergy 60 : 192-199. 1 January 2005

American Journal of Human Genetics

Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
Cichon, S., Martin, L., Hennies, H.C., Mueller, F., Van Driessche, K., Karpushova, A., Stevens, W., Colombo, R., Renne, T., Drouet, C., 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., Senderek, J., Anhuf, D., Thiel, C.T., Ekici, A.B., Poblete-Gutierrez, P., van Steensel, M., Seelow, D., Nuernberg, G., Schild, H.H., Nuernberg, P., Reis, A., Frank, J. and Zerres, K.
American Journal of Human Genetics 79 (6): 1105-1109. December 2006

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

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

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., Kaneva, R., Jamra, R.A., Diaz, G.O., Ohlraun, S., Milanova, V., Lee, Y.A., Rivas, F., Mayoral, F., Fuerst, R., Flaquer, A., Windemuth, C., Gay, E., Sanz, S., Gonzalez, M.J., Gil, S., Cabaleiro, F., del Rio, F., Perez, F., Haro, J., Kostov, C., Chorbov, V., Nikolova-Hill, A., Stoyanova, V., Onchev, G., Kremensky, I., Strauch, K., Schulze, T.G., Nuernberg, P., Gaebel, W., Klimke, A., Auburger, G., Wienker, T.F., Kalaydjieva, L., Propping, P., Cichon, S., Jablensky, A., Rietschel, M. and Noethen, M.M.
American Journal of Human Genetics 77 (6): 1102-1111. 1 December 2005

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

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg, B., Schuelke, M., Rueschendorf, F., Ruf, N., Kaindl, A.M., Henneke, M., Thiele, H., Stoltenburg-Didinger, G., Aksu, F., Topaloglu, H., Nuernberg, P., Huebner, C., 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., Rauch, A., Seifert, W., Schumi, C., Moser, E., Al-Taji, E., Tariverdian, G., Chrzanowska, K.H., Krajewska-Walasek, M., Rajab, A., Giugliani, R., Neumann, T.E., Eckl, K.M., Karbasiyan, M., Reis, A. and Horn, D.
American Journal of Human Genetics 75 (1): 138-145. July 2004

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

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

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

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

A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.
Vanita, A., Singh, J.R., Sarhadi, V.K., Singh, D., Reis, A., Rueschendorf, F., Becker-Follmann, J., 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., Morera, B., del Valle, G., Heuss, D., Kayser, C., Berghoff, M., Villegas, R., Hernandez, E., Mendez, M., Hennies, H.C., Neundoerfer, B., Barrantes, R., Reis, A. and Rautenstrauss, B.
American Journal of Human Genetics 68 : 269-274. 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., Kuester, W., Lestringant, G.G., Schulze, B., Hinz, B., Frossard, P.M., Reis, A. and Hennies, H.C.
American Journal of Human Genetics 69 (1): 216-222. 1 January 2001

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

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

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

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
Betz, R.C., Lee, Y.A., Bygum, A., Brandrup, F., Bernal, A.I., Toribio, J., Alvarez, J.I., Kukuk, G.M., Ibsen, H.H.W., Rasmussen, H.B., Wienker, T.F., Reis, A., Propping, P., Kruse, R., Cichon, S. and Noethen, M.M.
American Journal of Human Genetics 66 : 1979-1983. 1 June 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., De Waard, M., Lee, D.D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T. and Meisler, M.H.
American Journal of Human Genetics 66 (5): 1531-1539. 1 May 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., Hoffmeyer, S., Mischung, C., Gille, C., Ehlers, C., Kuecuekceylan, N., Abdel-Nour, M., Gewies, A., Peters, H., Kaufmann, D., Buske, A., Tinschert, S. and Nuernberg, P.
American Journal of Human Genetics 66 (3): 790-818. March 2000

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

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

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

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

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

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

A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort.
Hampe, J., Schreiber, S., Shaw, S.H., Lau, K.F., Bridger, S., Macpherson, A.J., Cardon, L.R., Sakul, H., Harris, T.J., Buckler, A., Hall, J., Stokkers, P., van Deventer, S.J., Nuernberg, P., Mirza, M.M., Lee, J.C., Lennard-Jones, J.E., 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., Jung, M., Smits, A.P.T., van Beersum, S., Rueschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J.H.A.M., Mariman, E.C.M., Brunner, H.G., Wienker, T.F., Reis, A., 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., Saar, K., van den Heuvel, L.P.W.J., Nuernberg, G., Vollmer, M., Hildebrandt, F., Reis, A., Monnens, L.A.H. and Knoers, N.V.A.M.
American Journal of Human Genetics 64 : 180-188. 1 January 1999

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

Gene localization for an autosomal dominant familial periodic fever to 12p13.
Mulley, J., Saar, K., Hewitt, G., Rueschendorf, F., Phillips, H., Colley, A., Sillence, D., 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., Nuernberg, P., Ritter, H., Fahsold, R., Leistner, W., Kaufmann, D. and Krone, W.
American Journal of Human Genetics 62 (2): 269-277. 6 February 1998

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone receptor gene.
Nuernberg, P., Tinschert, S., Mrug, M., Hampe, J., Mueller, C.R., Fuhrmann, E., 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., Hennies, H.C., Jung, M., Jenkins, T., Wienker, T.F., Hull, P., Spurdle, A., Kuester, W., Ramsay, M. and Reis, A.
American Journal of Human Genetics 61 (2): 370-378. August 1997

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

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

American Journal of Medical Genetics

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

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

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

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

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

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

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

Linkage and family-based association study of schizophrenia and the synapsin III locus that maps to chromosome 22q13.
Stoeber, G., Meyer, J., Nanda, I., Wienker, T.F., Saar, K., Knapp, M., Jatzke, S., Schmid, M., 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., Krebsova, A., Kunze, J. and Reis, A.
American Journal of Medical Genetics 92 (4): 285-292. 5 June 2000

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

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

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

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

McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.
Tinschert, S., Gerl, H., Gewies, A., 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., Peters, H., Hoffmeyer, S., Buske, A., Lueder, A., Hess, D., Lehmann, R., Nuernberg, P. and Tinschert, S.
American Journal of Medical Genetics 83 : 6-12. 5 March 1999

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

American Journal of Medical Genetics A

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

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

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

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

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

American Journal of Medical Genetics B

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

American Journal of Primatology

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

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

American Journal of Respiratory and Critical Care Medicine

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

Annals of Neurology

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

Archives of Dermatological Research

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

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

Archives of Neurology

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

Arquivos Brasileiros de Cardiologia

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., Castro, I., Lima, L.L., Reis, A., Kalil, R.A.K., Prates, P.R., Lucchese, F.A., Halperin, C., Pereira, E., Rodrigues, R. and Nesralla, I.A.
Arquivos Brasileiros de Cardiologia 64 : 547-552. 1 June 1995

Arthritis Research & Therapy

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

Audiology & Neuro-Otology

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

BMC Pulmonary Medicine

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

Behaviour

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

Bioinformatics

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

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

Biological Chemistry

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., Kley, R.A., Vorgerd, M., Schroeder, J.M., Weis, J., Reimann, H., Albrecht, B., Nuernberg, P., Thiele, H., Mueller, C.R., Meng, G., Witt, C.C. and Labeit, S.
Biological Chemistry 386 (1): 61-67. 1 January 2005

Biological Psychiatry

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

Biology of Reproduction

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

Biotechniques

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

Blood

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

Bone

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

Brain

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

British Journal of Clinical Pharmacology

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

British Journal of Dermatology

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., Traupe, H., Fischer, B., Tinschert, S. and Hennies, H.C.
British Journal of Dermatology 154 (1): 167-171. December 2006

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

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

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

Cancer Research

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

Catheterization and Cardiovascular Diagnosis

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

Cell

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

Cellular Physiology and Biochemistry

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

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

Circulation

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

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

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

Circulation Research

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., Bähring, S., Hoffmann, K., Strauch, K., Busjahn, A., Nuernberg, G., Jouma, M., Bautz, E.K.F., Dresel, H.A. and Luft, F.C.
Circulation Research 90 (9): 951-958. 17 May 2002

Clinical Genetics

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

Clinical Otolaryngology

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

Cytogenetic and Genome Research

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

Differentiation

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

Electrophoresis

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

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

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

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

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

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

Epilepsia

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

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

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

Epilepsy Research

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

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

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

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

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

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures.
Windemuth, C., Schulz, H., Saar, K., Gennaro, E., Bianchi, A., Zara, F., Bulteau, C., Kaminska, A., Ville, D., Cieuta, C., Nabbout-Tarantino, R., Prud'homme, J.F., Dulac, O., Bate, L., Gardiner, R.M., Lindhout, D., Wienker, T.F., Janz, D. and Sander, T.
Epilepsy Research 51 (1-2): 23-29. 1 September 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., Taske, N., Sander, T., Heils, A., Whitehouse, W., Goutieres, F., Aicardi, J., Lehesjoki, A.E., Siren, A., Friis, M.L., Kjeldsen, M.J., Panayiotopoulos, C., Kennedy, C., Ferrie, C., Rees, M. and Gardiner, R.M.
Epilepsy Research 48 : 169-179. 1 February 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., Toliat, M.R., Heils, A., Becker, C. and Nuernberg, P.
Epilepsy Research 49 (2): 173-177. 1 January 2002

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

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

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

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

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

European Archives of Psychiatry and Clinical Neuroscience

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

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

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

European Journal of Dermatology

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

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

European Journal of Human Genetics

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

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

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

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

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

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

European Psychiatry

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

Experimental Dermatology

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

Experimental Eye Research

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

Gastroenterology

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

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

Genes and Immunity

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

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

Genetics

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

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

Genomics

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

Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.
Appel, S., Reichwald, K., Zimmermann, W., Reis, A., Rosenthal, A. and Hennies, H.C.
Genomics 75 (1-3): 6-8. July 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., Kroiss, S., Karle, S., Berthold, S., Huck, K., Burton, C., Rahman, N., Koptides, M., Deltas, C., Otto, E., Rueschendorf, F., Feest, T. and Hildebrandt, F.
Genomics 72 (3): 278-284. 1 January 2001

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

Mutation in the beta A3/A1-crystallin encoding geneCryba1 causes a dominant cataract in the mouse.
Graw, J., Jung, M., Loester, J., Klopp, N., Soewarto, D., Fella, C., Fuchs, H., Reis, A., Wolf, E., Balling, R. and de Angelis, M.H.
Genomics 62 (1): 67-73. 15 November 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., Ruhrberg, C., Hennies, H.C., Mills, H.S., Di Colandrea, T., Evans, K.E., Ellis, A., Watt, F.M., Bishop, D.T., Spurr, N.K., Stevens, H.P., Leigh, I.M., Reis, A., Kelsell, D.P. and Field, J.K.
Genomics 59 : 234-242. 15 July 1999

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

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

Glia

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

Gynecologic Oncology

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., Mustea, A., Toliat, M.R., Pirvulescu, C., Koensgen, D., Sun, P., Nuernberg, P., Lichtenegger, W. and Sehouli, J.
Gynecologic Oncology 104 : 680-685. March 2007

HNO

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

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

Hautarzt

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

Human Genetics

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

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

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.
Miller, K., Pabst, B., Ritter, H., Nuernberg, P., Siebert, R., Schmidtke, J. and Arslan-Kirchner, M.
Human Genetics 112 (4): 343-347. April 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., Stevens, H.P., Lestringant, G.G., Westenberger-Treumann, M., Traupe, H., Hinz, B., Frossard, P.M., Stadler, R., Leigh, I.M., Nuernberg, P., Reis, A. and Hennies, H.C.
Human Genetics 112 (1): 50-56. January 2003

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

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

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

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

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

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

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

Human Heredity

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

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

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

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

Human Molecular Genetics

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature sensitive phenotype.
Oji, V., Hautier, J.M., Ahvazi, B., Hausser, I., Aufenvenne, K., Walker, T., Seller, N., Steijlen, P.M., Kuester, W., Hovnanian, A., Hennies, H.C. and Traupe, H.
Human Molecular Genetics 15 (21): 3083-3097. 1 November 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., Wudy, S.A., Saar, K., Hagemann, S., Friedel, S., Scherag, A., Berthold, L.D., Alzen, G., Gortner, L., Blum, W.F., Hinney, A., Nuernberg, P., Schaefer, H. and Hebebrand, J.
Human Molecular Genetics 15 (18): 2772-2783. 15 September 2006

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

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

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., Bauerfeind, A., Toliat, M.R., Becker, C., Luganskaja, T., Guenther, U.P., Rohde, K., Schuster, H., Junghans, C., Luft, F.C., Nuernberg, P. and Reich, J.G.
Human Molecular Genetics 13 (10): 993-1004. 15 May 2004

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

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.
Gong, M., Zhang, H.Y., Schulz, H., Lee, Y.A., Sun, K., Bähring, S., Luft, F.C., Nürnberg, P., Reis, A., Rohde, K., Ganten, D., Hui, R.T. and Hübner, N.
Human Molecular Genetics 12 (11): 1273-1277. 1 June 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., Lyons, B.L., Burzenski, L.M., Gott, B., Samuels, R., Schweitzer, P.A., Dreger, C., Herrmann, H., Kalscheuer, V., Olins, A.L., Olins, D.E., Sperling, K. and Hoffmann, K.
Human Molecular Genetics 12 (1): 61-69. 1 January 2003

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

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

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

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

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

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.
Hennies, H.C., Kuester, W., Mischke, D. and Reis, A.
Human Molecular Genetics 4 : 1015-1020. 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., Magdorf, K., Staab, D., Wahn, H.U., Krawczak, M., Sperling, K. and Reis, A.
Human Molecular Genetics 4 : 1463-1464. 1 January 1995

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

Human Mutation

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

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

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

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

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

Application of genomewide SNP arrays for detection of simulated susceptibility loci.
Kulle, B., Schirmer, M., Toliat, M.R., Suk, A., Becker, C., Tzvetkov, M.V., Brockmoeller, J., Bickeboeller, H., Hasenfuss, G., Nuernberg, P. and Wojnowski, L.
Human Mutation 25 (6): 557-565. 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., Uhlenberg, B., Terkeltaub, R., Nuernberg, P. and Rutsch, F.
Human Mutation 25 (1): 98. 1 January 2005

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

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

Immunogenetics

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

International Journal of Cancer

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

Investigative Ophthalmology & Visual Science

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

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

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

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

Journal der Deutschen Dermatologischen Gesellschaft : JDDG

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

Journal of Allergy and Clinical Immunology

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

Journal of Cardiovascular Pharmacology

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

Journal of Clinical Endocrinology and Metabolism

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

Journal of Clinical Microbiology

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., Steffens, M., Arlt, E.M., Toliat, M.R., Mezger, M., Suk, A., Wienker, T.F., Hebart, H., Nuernberg, P., Boeckh, M., Ljungman, P., Trenschel, R. and Einsele, H.
Journal of Clinical Microbiology 44 : 1847-1850. May 2006

Journal of Heart and Lung Transplantation

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

Journal of Investigative Dermatology

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

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

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

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., Rueschendorf, F., Schmitt-Egenolf, M., Hennies, H.C., Friedl, G., Stander, M., Wienker, T.F., Reis, A. and Traupe, H.
Journal of Investigative Dermatology 112 : 514-515. 1 April 1999

Journal of Medical Genetics

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

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

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

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

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl, A.M., Rueschendorf, F., Krause, S., Goebel, H.H., Koehler, K., Becker, C., Pongratz, D., Mueller-Hoecker, J., Nuernberg, P., Stoltenburg-Didinger, G., 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., Rueschendorf, F., Huang, J., Trautmann, U., Becker, C., Thiel, C., Jones, K.W., Reis, A. and Nuernberg, P.
Journal of Medical Genetics 41 (12): 916-922. 1 January 2004

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

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

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

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes.
Toennies, H., Schulze, I., Hennies, H.C., Neumann, L.M., Keitzer, R. and Neitzel, H.
Journal of Medical Genetics 38 : 617-621. 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., Saar, K., Lee, Y.A., Nuernberg, G., Reis, A., Nur-E-Kamal, M. and Al Gazali, L.I.
Journal of Medical Genetics 38 (6): 369-373. 1 January 2001

Journal of Molecular Medicine

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

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

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

Journal of Neural Transmission

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

Journal of Thoracic and Cardiovascular Surgery

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

Journal of the American Academy of Dermatology

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

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

Journal of the American College of Cardiology

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

Journal of the American Society of Nephrology

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

Kidney International

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

Mammalian Genome

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

Mechanisms of Development

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

Medizinische Genetik

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

Molecular Ecology

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

Molecular Medicine

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

Molecular Psychiatry

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

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

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., Ortega, G., Schraut, K., Nuernberg, G., Rueschendorf, F., Saar, K., Moessner, R., Wienker, T.F., Reis, A., Stoeber, G. and Lesch, K.P.
Molecular Psychiatry 7 : 220-223. 1 January 2002

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

Molecular Vision

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

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

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

Molecular and Cellular Probes

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

Nature Genetics

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
Bittner, R.E., Anderson, L.V.B., Burkhardt, E., Bashir, R., Vafiadaki, E., Ivanova, S., Raffelsberger, T., Maerk, I., Hoeger, H., Jung, M., Karbasiyan, M., Storch, M., Lassmann, H., Moss, J.A., Davison, K., Harrison, R., 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., Wattanasirichaigoon, D., Goebel, H.H., Wilce, M., Pelin, K., Donner, K., Jacob, R.L., Huebner, C., Oexle, K., Anderson, J.R., Verity, C.M., North, K.N., Iannaccone, S.T., Mueller, C.R., Nuernberg, P., Muntoni, F., Sewry, C., Hughes, I., Sutphen, R., Lacson, A.G., Swoboda, K.J., Vigneron, J., Wallgren-Pettersson, C., Beggs, A.H. and Laing, N.G.
Nature Genetics 23 : 208-212. 1 October 1999

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

Naturwissenschaften

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

Nephrology Dialysis Transplantation

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., Zalewski, I., Martin, F.C., Ruf, R., Müller, D., Hennies, H.C., Schwarz, S., Panther, F., Attanasio, M., Acosta, H.G., Imm, A., Lucke, B., Utsch, B., Otto, E., Nuernberg, P., Nieto, V.G. and Hildebrandt, F.
Nephrology Dialysis Transplantation 20 (5): 909-914. 1 January 2005

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

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

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

Nervenarzt

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

NeuroReport

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

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

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

Neurobiology of Disease

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

Neurology

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

Neuropsychopharmacology

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

PLoS Genetics

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

PLoS ONE

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

Pediatric Hematology and Oncology

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

Pediatric Nephrology

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

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

Pediatrics

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

Pharmacogenetics and Genomics

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

Pharmacogenomics Journal

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

Polish Journal of Pharmacology

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

Proceedings of the National Academy of Sciences of the United States of America

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.
Thiele, H., Sakano, M., Kitagawa, H., Sugahara, K., Rajab, A., Hoehne, W., Ritter, H., Leschik, G., 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

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Lehmann, K., Seemann, P., Stricker, S., Sammar, M., Meyer, B., Suering, K., Majewski, F., Tinschert, S., Grzeschik, K.H., Mueller, D., Knaus, P., 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

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.
Hampe, J., Frenzel, H., Mirza, M.M., Croucher, P.J., Cuthbert, A., Mascheretti, S., Huse, K., Platzer, M., Bridger, S., Meyer, B., Nuernberg, P., Stokkers, P., Krawczak, M., Mathew, C.G., 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

Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques.
Widdig, A., Nuernberg, P., Krawczak, M., 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

Proceedings of the Royal Society of London Series B-Biological Sciences

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

Psychiatric Genetics

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

Tissue Antigens

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

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

Zeitschrift fuer Epileptologie

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