Browse by Journal Title

2022

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Asif, M., Mocanu, I.D., Abdullah, U., Höhne, W., Altmüller, J., Makhdoom, E.U.H., Thiele, H., Baig, S.M., Nürnberg, P., Graul-Neumann, L. and Hussain, M.S.
American Journal of Medical Genetics A 188 (4): 1251-1258. April 2022

Genomic basis of syndromic short stature in an Algerian patient cohort.
Moosa, S., Chentli, F., Altmüller, J., Bögershausen, N., Nürnberg, P., Yigit, G., Li, Y. and Wollnik, B.
American Journal of Medical Genetics A 188 (2): 606-612. February 2022

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
Lessel, D., Rading, K., Campbell, S.E., Thiele, H., Altmüller, J., Gordon, L.B. and Kubisch, C.
American Journal of Medical Genetics A 188 (1): 216-223. January 2022

2021

Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler, H.S., Akpulat, U., Özdemir, Ö., Yis, U., Güngör, S., Talim, B., Diniz, G., Baydan, F., Thiele, H., Altmüller, J., Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185 (6): 1678-1690. 14 May 2021

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: a clinical longitudinal study.
Gangfuß, A., Yigit, G., Altmüller, J., Nürnberg, P., Czeschik, J.C., Wollnik, B., Bögershausen, N., Burfeind, P., Wieczorek, D., Kaiser, F., Roos, A., Kölbel, H., Schara-Schmidt, U. and Kuechler, A.
American Journal of Medical Genetics A 185 (4): 1216-1221. April 2021

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
Bamborschke, D., Özdemir, Ö., Kreutzer, M., Motameny, S., Thiele, H., Kribs, A., Dötsch, J., Altmüller, J., Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185 (1): 90-96. January 2021

2020

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Schröder, S., Wieland, B., Ohlenbusch, A., Yigit, G., Altmüller, J., Boltshauser, E., Dörk, T. and Brockmann, K.
American Journal of Medical Genetics A 182 (12): 2971-2975. December 2020

2008

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.
Posch, M.G., Perrot, A., Schmitt, K., Mittelhaus, S., Esenwein, E.M., Stiller, B., Geier, C., Dietz, R., Gessner, R., Oezcelik, C. and Berger, F.
American Journal of Medical Genetics A 146 (2): 251-253. 15 January 2008

Characterization of interstitial Xp duplications in two families by tiling path array CGH.
Tzschach, A., Chen, W., Erdogan, F., Hoeller, A., Ropers, H.H., Castellan, C., Ullmann, R. and Schinzel, A.
American Journal of Medical Genetics A 146A (2): 197-203. 15 January 2008

2007

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
Erdogan, F., Ullmann, R., Chen, W., Schubert, M., Adolph, S., Hultschig, C., Kalscheuer, V., Ropers, H.H., Spaich, C. and Tzschach, A.
American Journal of Medical Genetics A 143 (2): 172-178. 15 January 2007

2006

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

2005

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

2004

Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.
Henneke, M., Wehner, L.E., Hennies, H.C., Preuss, N. and Gaertner, J.
American Journal of Medical Genetics A 128A (2): 156-158. 15 July 2004

2003

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.
Sasse-Klaassen, S., Gerull, B., Oechslin, E., Jenni, R. and Thierfelder, L.
American Journal of Medical Genetics A 119A (2): 162-167. 1 June 2003

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.
Horn, D., Neitzel, H., Toennies, H., Kalscheuer, V., Kunze, J., Hinkel, G.K. and Bartsch, O.
American Journal of Medical Genetics A 117A (3): 236-244. 15 March 2003

2002

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