Browse by Journal Title

2022

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Asif, M. and Mocanu, I.D. and Abdullah, U. and Höhne, W. and Altmüller, J. and Makhdoom, E.U.H. and Thiele, H. and Baig, S.M. and Nürnberg, P. and 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. and Chentli, F. and Altmüller, J. and Bögershausen, N. and Nürnberg, P. and Yigit, G. and 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. and Rading, K. and Campbell, S.E. and Thiele, H. and Altmüller, J. and 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. and Akpulat, U. and Özdemir, Ö. and Yis, U. and Güngör, S. and Talim, B. and Diniz, G. and Baydan, F. and Thiele, H. and Altmüller, J. and 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. and Yigit, G. and Altmüller, J. and Nürnberg, P. and Czeschik, J.C. and Wollnik, B. and Bögershausen, N. and Burfeind, P. and Wieczorek, D. and Kaiser, F. and Roos, A. and Kölbel, H. and 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. and Özdemir, Ö. and Kreutzer, M. and Motameny, S. and Thiele, H. and Kribs, A. and Dötsch, J. and Altmüller, J. and 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. and Wieland, B. and Ohlenbusch, A. and Yigit, G. and Altmüller, J. and Boltshauser, E. and 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. and Perrot, A. and Schmitt, K. and Mittelhaus, S. and Esenwein, E.M. and Stiller, B. and Geier, C. and Dietz, R. and Gessner, R. and 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. and Chen, W. and Erdogan, F. and Hoeller, A. and Ropers, H.H. and Castellan, C. and 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. and Ullmann, R. and Chen, W. and Schubert, M. and Adolph, S. and Hultschig, C. and Kalscheuer, V. and Ropers, H.H. and 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. and Hoyer, J. and Guth, S. and Zweier, C. and Kraus, C. and Becker, C. and Zenker, M. and Hueffmeier, U. and Thiel, C. and Rueschendorf, F. and Nuernberg, P. and Reis, A. and Trautmann, U.
American Journal of Medical Genetics A 140A (19): 2063-2074. 1 October 2006

2005

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

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

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

2004

Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.
Henneke, M. and Wehner, L.E. and Hennies, H.C. and 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. and Gerull, B. and Oechslin, E. and 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. and Neitzel, H. and Toennies, H. and Kalscheuer, V. and Kunze, J. and 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. and Horn, D. and Toennies, H. and Neitzel, H. and Reis, A.
American Journal of Medical Genetics A 111 (3): 233-237. 15 August 2002