Browse by Journal Title

2024

lncRNA CDKN2B-AS1 regulates collagen expression.
Shi, W., Song, J., Weiner, J.M., Chopra, A., Dommisch, H., Beule, D. and Schaefer, A.S.
Human Genetics 143 (7): 907-919. July 2024

2023

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G.S., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K.M., Li, Y., Wollnik, B. and Yigit, G.
Human Genetics 142 (4): 543-552. April 2023

2022

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
Cinque, L., Micale, L., Manara, E., Esposito, A., Palumbo, O., Chiariello, A.M., Bianco, S., Guerri, G., Bertelli, M., Giuffrida, M.G., Bernardini, L., Notarangelo, A., Nicodemi, M. and Castori, M.
Human Genetics 141 (2): 217-227. February 2022

2021

Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt, J., Goergens, J., Pochechueva, T., Kotter, A., Schwenzer, N., Sitte, M., Werner, G., Altmueller, J., Thiele, H., Nürnberg, P., Isensee, J., Li, Y., Müller, C., Leube, B., Reinhardt, H.C., Hucho, T., Salinas, G., Helm, M., Jachimowicz, R.D., Wieczorek, D., Kohl, T., Lehnart, S.E., Yigit, G. and Wollnik, B.
Human Genetics 140 (12): 1679-1693. December 2021

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Volk, A.E., Hedergott, A., Preising, M., Rading, S., Fricke, J., Herkenrath, P., Nürnberg, P., Altmüller, J., von Ameln, S., Lorenz, B., Neugebauer, A., Karsak, M. and Kubisch, C.
Human Genetics 140 (8): 1157-1168. August 2021

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona, B., Mazaheri, N., Lin, S.J., Dunbar, L.A., Maroofian, R., Azaiez, H., Booth, K.T., Vitry, S., Rad, A., Rüschendorf, F., Varshney, P., Fowler, B., Beetz, C., Alagramam, K.N., Murphy, D., Shariati, G., Sedaghat, A., Houlden, H., Petree, C., VijayKumar, S., Smith, R.J.H., Haaf, T., El-Amraoui, A., Bowl, M.R., Varshney, G.K. and Galehdari, H.
Human Genetics 140 (6): 915-931. June 2021

2020

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes, R., Berger, H., Till, K., Salinas, G., Sturm, M., Altmüller, J., Nürnberg, P., Thiele, H., Funke, R., Apeshiotis, N., Langen, H., Wollnik, B., Borchers, A. and Pauli, S.
Human Genetics 139 (11): 1363-1379. November 2020

2017

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Bramswig, N.C., Lüdecke, H.J., Hamdan, F.F., Altmüller, J., Beleggia, F., Elcioglu, N.H., Freyer, C., Gerkes, E.H., Demirkol, Y.K., Knupp, K.G., Kuechler, A., Li, Y., Lowenstein, D.H., Michaud, J.L., Park, K., Stegmann, A.P.A., Veenstra-Knol, H.E., Wieland, T., Wollnik, B., Engels, H., Strom, T.M., Kleefstra, T. and Wieczorek, D.
Human Genetics 136 (7): 821-834. July 2017

2016

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski, S., Hussain, M.S., Sur, I., Altmüller, J., Thiele, H., Abdullah, U., Waseem, S.S., Moawia, A., Nürnberg, G., Noegel, A.A., Baig, S.M. and Nürnberg, P.
Human Genetics 135 (2): 157-170. February 2016

2015

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde, B.S., Mizumoto, S., Kogawa, R., Becker, C., Altmüller, J., Thiele, H., Rueschendorf, F., Toliat, M.R., Kaleschke, G., Haemmerle, J.M., Hoehne, W., Sugahara, K., Nuernberg, P. and Kennerknecht, I.
Human Genetics 134 (7): 691-704. July 2015

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Kakar, N., Ahmad, J., Morris-Rosendahl, D.J., Altmüller, J., Friedrich, K., Barbi, G., Nürnberg, P., Kubisch, C., Dobyns, W.B. and Borck, G.
Human Genetics 134 (1): 45-51. January 2015

2008

The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex.
Aranda-Orgilles, B., Trockenbacher, A., Winter, J., Aigner, J., Koehler, A., Jastrzebska, E., Stahl, J., Mueller, E.C., Otto, A., Wanker, E.E., Schneider, R. and Schweiger, S.
Human Genetics 123 (2): 163-176. March 2008

2007

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Najmabadi, H., Motazacker, M.M., Garshasbi, M., Kahrizi, K., Tzschach, A., Chen, W., Behjati, F., Hadavi, V., Nieh, S.E., Abedini, S.S., Vazifehmand, R., Firouzabadi, S.G., Jamali, P., Falah, M., Seifati, S.M., Grueters, A., Lenzner, S., Jensen, L.R., Rueschendorf, F., Kuss, A.W. and Ropers, H.H.
Human Genetics 121 (1): 43-48. March 2007

2006

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
Budny, B., Chen, W., Omran, H., Fliegauf, M., Tzschach, A., Wisniewska, M., Jensen, L.R., Raynaud, M., Shoichet, S.A., Badura, M., Lenzner, S., Latos-Bielenska, A. and Ropers, H.H.
Human Genetics 120 (2): 171-178. September 2006

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

2003

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

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Winter, J., Lehmann, T., Suckow, V., Kijas, Z., Kulozik, A., Kalscheuer, V., Hamel, B., Devriendt, K., Opitz, J., Lenzner, S., Ropers, H.H. and Schweiger, S.
Human Genetics 112 (3): 249-254. March 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

2002

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

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
Aung, T., Ocaka, L., Ebenezer, N.D., Morris, A.G., Krawczak, M., Thiselton, D.L., Alexander, C., Votruba, M., Brice, G., Child, A.H., Francis, P.J., Hitchings, R.A., Lehmann, O.J. and Bhattacharya, S.S.
Human Genetics 110 : 52-56. 1 January 2002

2001

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
Thiselton, D.L., Alexander, C., Morris, A., Brooks, S., Rosenberg, T., Eiberg, H., Kjer, B., Kjer, P., Bhattacharya, S.S. and Votruba, M.
Human Genetics 109 : 498-502. 1 November 2001

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

2000

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

1998

Detection of 6q deletions in breast carcinoma cell lines by fluorescence in situ hybridization.
Zhang, Y.M., Matthiesen, P., Siebert, R., Harder, S., Theile, M., Scherneck, S. and Schlegelberger, B.
Human Genetics 103 : 727-729. 1 December 1998

Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.
Hennies, H.C., Raghunath, M., Wiebe, V., Vogel, M., Velten, F., Traupe, H. and Reis, A.
Human Genetics 102 : 314-318. 1 January 1998

1997

Localization of the gene for Wieacker Wolff syndrome in the pericentromeric region of the X chromosome.
Kloos, D.U., Jakubiczka, S., Wienker, T.F., Wolff, G. and Wieacker, P.
Human Genetics 100 : 426-430. 1 January 1997

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

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with female survival.
Macek, M., Krebsova, A., Nash, E., Hamosh, A., Reis, A., Varon-Mateeva, R., Schmidtke, J., Maestri, N.E., Sperling, K., Krawczak, M. and Cutting, G.R.
Human Genetics 99 : 565-572. 1 January 1997

The role of oxygen metabolism for the pathological phenotype of fanconi anemia.
Ruppitsch, W., Meisslitzer, C., Weirichschwaiger, H., Klocker, H., Scheidereit, C., Schweiger, M. and Hirschkauffmann, M.
Human Genetics 99 : 710-719. 1 January 1997

1996

Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.
Oksche, A., Moeller, A., Dickson, J., Rosendahl, W., Rascher, W., Bichet, D.G. and Rosenthal, W.
Human Genetics 98 (5): 587-589. November 1996

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

DNA polymorphisms in adhesion molecule genes: a new risk factor for early atherosclerosis.
Wenzel, K., Ernst, M., Rohde, K., Baumann, G. and Speer, A.
Human Genetics 97 (1): 15-20. 1 January 1996

1995

Mapping of a human rRNA gene in the YAC contig surrounding the sma candidate gene.
Huschenbett, J., Gasch, A., Katzer, A., Affeldt, M. and Speer, A.
Human Genetics 96 (3): 335-338. 1 January 1995

1994

Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis.
Grade, K., Grunewald, I., Graupner, I., Behrens, F. and Coutelle, C.
Human Genetics 94 : 154-158. 1 January 1994

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
Hennies, H.C., Zehender, D., Kunze, J., Kuester, W. and Reis, A.
Human Genetics 93 : 649-654. 1 January 1994

Fine mapping of human PI 3-kinase associated p85 alpha transcripts in the YAC contig surrounding the spinal muscular atrophy gene.
Huschenbett, J., Gasch, A., Katzer, A. and Speer, A.
Human Genetics 94 : 427-431. 1 January 1994

Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.
Jung, U., Urner, U., Grade, K. and Coutelle, C.
Human Genetics 94 : 19-24. 1 January 1994

Skipping of multiple CFTR exons is not a result of single exon omissions.
Rickers, A., Rininsland, F., Osborne, L. and Reiss, J.
Human Genetics 94 : 311-313. 1 January 1994

Polymorphism in the human E-selectin gene detected by PCR- SSCP.
Wenzel, K., Hanke, R. and Speer, A.
Human Genetics 94 : 452-453. 1 January 1994

1993

Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.
Schuster, H., Fischer, H.J., Keller, C., Wolfram, G. and Zoellner, N.
Human Genetics 91 : 287-289. 1 January 1993

1992

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene - a european study.
van Essen, A.J., Abbs, S., Baiget, M., Bakker, E., Boileau, C., van Broeckhoven, C., Bushby, K., Clarke, A., Claustres, M., Covone, A.E., Ferrari, M., Ferlini, A., Galluzzi, G., Grimm, T., Grubben, C., Jeanpierre, M., Kaariainen, H., Liechtigallati, S., Melis, M.A., van Ommen, G.J.B., Poncin, J.E., Scheffer, H., Schwartz, M., Speer, A., Stuhrmann, M., Verellen-Dumoulin, C., Wilcox, D.E. and Tenkate, L.P.
Human Genetics 88 (3): 249-257. 1 January 1992

1991

A pooling strategy for heterozygote screening of the lamdaF508 cystic fibrosis mutation.
Gille, C., Grade, K. and Coutelle, C.
Human Genetics 86 : 289-291. 1 January 1991