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European Journal of Human Genetics (2)
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Showing 1–6 of 6 results

Advanced filters: Author: Peter Wieacker Clear advanced filters

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Stefan Mundlos and colleagues report the identification of mutations in SCYL1BP1 in families with gerodermia osteodysplastica, a disorder characterized by wrinkly skin and osteoporosis. SCYL1BP1 localizes to the Golgi apparatus and interacts with Rab6.

Hans Christian Hennies
Uwe Kornak
Stefan Mundlos
Research09 Nov 2008
Nature Genetics

Volume: 40, P: 1410-1412
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic

Ilse Wieland
Roman Makarov
Peter Wieacker
Research28 Nov 2007
European Journal of Human Genetics

Volume: 16, P: 184-191
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer

Albrecht Röpke
Peter Buhtz
Peter F Wieacker
Research20 Jun 2005
Oncogene

Volume: 24, P: 6667-6675
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

Albrecht Röpke
Ann-Christin Tewes
Frank Tüttelmann
Research09 Jan 2013
European Journal of Human Genetics

Volume: 21, P: 1012-1015
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Alfons Meindl and colleagues report heterozygous germline mutations in RAD51C in families with breast and ovarian cancer. Mutations were found in 1.3% of 480 pedigrees with breast and ovarian cancer, but not in 620 pedigrees with breast cancer only.

Alfons Meindl
Heide Hellebrand
Helmut Hanenberg
Research18 Apr 2010
Nature Genetics

Volume: 42, P: 410-414