Elisabeth Steichen‐Gersdorf

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, Roger B. Slee, N Fukai et al. · Cell · 2001 · 2.2K citations · Full text

Bone Accrual, Sclerostin, Signal Transduction +8

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27

Holly Duncan Craig, Murat Günel, Obed M. Cepeda et al. · Human Molecular Genetics · 1998 · 349 citations · Full text

Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.

Elisabeth Steichen‐Gersdorf, Holly H. Gallion, D Ford et al. · PubMed · 1994 · 94 citations

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Andreas Janecke, Ruijuan Xu, Elisabeth Steichen‐Gersdorf et al. · Human Mutation · 2017 · 81 citations · Full text

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

Claus‐Eric Ott, Gundula Leschik, Fabienne Trotier et al. · Human Mutation · 2010 · 69 citations · Full text

Cleidocranial Dysplasia, Ccd Patients, Mendelian Disorder +13