Hans‐Dieter Rott

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Özge Altug Teber, Gabriele Gillessen‐Kaesbach, Sven Fischer et al. · European Journal of Human Genetics · 2004 · 181 citations

Life Sciences, Genetics, Molecular Genetics +14

“Mowat‐Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies‐mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

Christiane Zweier, Beate Albrecht, Beate Mitulla et al. · American Journal of Medical Genetics · 2002 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation

Sarah A. Shoichet, Kirsten Hoffmann, Corinna Menzel et al. · The American Journal of Human Genetics · 2003 · 97 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences11Accession numbers and URLs for data in this article are as follows: Online Mendelian Inheritance in Man: http://www.ncbi.nlm.nih.gov/omim. For TSC1 (MIM 191100) and TSC2 (MIM 191092). The Human Gene Mutation Data Base, Cardiff (HGMD): http://www.uwcm.acuk/uwcm/mg. For TSC1 120735 and for TSC2 120466. TSC Variation Database: http://www.expmed.bwh.harvard.edu/projects/tsc_database. GenBank: http://www.ncbi.nlm.nih.gov/Genbank. For TSC2 cDNA X75621 and TSC2 complete genomic sequence AC005600.

Karin Mayer, Wolfgang G. Ballhausen, Werner Leistner et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2000 · 50 citations

Life Sciences, Genetics, Molecular Genetics +16

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

Thomas Liehr, H. Grehl, K D Bathke et al. · Human Genetics · 1996 · 48 citations

Life Sciences, Genetics, Human Genetics +4