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Bernhard Zabel
Researcher at University of Freiburg
Publications - 188
Citations - 17870
Bernhard Zabel is an academic researcher from University of Freiburg. The author has contributed to research in topics: Gene & Dysplasia. The author has an hindex of 60, co-authored 188 publications receiving 16888 citations. Previous affiliations of Bernhard Zabel include Boston Children's Hospital & University of Mainz.
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Journal ArticleDOI
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Yaoqin Gong,R. B. Slee,Naomi Fukai,Georges Rawadi,Sergio Roman-Roman,Anthony M. Reginato,H. W. Wang,Tim Cundy,Francis H. Glorieux,Dorit Lev,M. Zacharin,Konrad Oexle,Jose Marcelino,Wafaa M. Suwairi,Shauna Heeger,G. Sabatakos,Suneel S. Apte,W. N. Adkins,J. Allgrove,M. Arslan-Kirchner,J. A. Batch,Peter Beighton,Graeme C.M. Black,R. G. Boles,L. M. Boon,C. Borrone,Han G. Brunner,G. F. Carle,Bruno Dallapiccola,A. De Paepe,B. Floege,M. L. Halfhide,Barbara Hall,Raoul C.M. Hennekam,Tatsuo Hirose,A. Jans,Harald Jüppner,Chong Ae Kim,K. Keppler-Noreuil,A. Kohlschuetter,Didier Lacombe,M. Lambert,E. Lemyre,T. Letteboer,Leena Peltonen,Rajkumar Ramesar,M. Romanengo,H. Somer,E. Steichen-Gersdorf,Beat Steinmann,Beth A. Sullivan,Andrea Superti-Furga,W. Swoboda,M. J. van den Boogaard,W. Van Hul,Miikka Vikkula,Marcela Votruba,Bernhard Zabel,Teresa Garcia,Roland Baron,Bjorn R. Olsen,Matthew L. Warman +61 more
TL;DR: It is reported that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth and is important for the establishment of peak bone mass.
Journal ArticleDOI
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Stefan Mundlos,Stefan Mundlos,Florian Otto,C Mundlos,C Mundlos,John B. Mulliken,Arthur S. Aylsworth,S Albright,Dick Lindhout,William G. Cole,W Henn,Joan H.M. Knoll,Joan H.M. Knoll,Michael John Owen,Roland Mertelsmann,Bernhard Zabel,Bjorn R. Olsen,Bjorn R. Olsen +17 more
TL;DR: It is concluded that CBFA1 mutations cause Cleidocranial dysplasia and that heterozygous loss of function is sufficient to produce the disorder.
Journal ArticleDOI
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
Thomas Wagner,J. Wirth,Jobst Meyer,Bernhard Zabel,Marika Held,J. Zimmer,Juan J. Pasantes,Juan J. Pasantes,Franca Dagna Bricarelli,Jürgen Keutel,Elisabeth Hustert,Ulrich Wolf,Niels Tommerup,Werner Schempp,Gerd Scherer +14 more
TL;DR: Inactivating mutations on oneSOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency for SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal.
Journal ArticleDOI
Nosology and classification of genetic skeletal disorders : 2010 revision
Matthew L. Warman,Valérie Cormier-Daire,Christine Hall,Deborah Krakow,Deborah Krakow,Ralph S. Lachman,Martine Lemerrer,Geert Mortier,Stefan Mundlos,Gen Nishimura,David L. Rimoin,Stephen P. Robertson,Ravi Savarirayan,David Sillence,J. Spranger,Sheila Unger,Sheila Unger,Bernhard Zabel,Andrea Superti-Furga,Andrea Superti-Furga +19 more
TL;DR: The Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene.
Journal ArticleDOI
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
Sandra D. Dreyer,Guang Zhou,Antonio Baldini,Andreas Winterpacht,Bernhard Zabel,William W. Cole,Randy L. Johnson,Brendan Lee +7 more
TL;DR: A unique role for LMX1B in renal development and in patterning of the skeletal system is demonstrated, and it is suggested that alteration of Lmxlb/LMx1B function in mice and humans results in similar phenotypes.