Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jessica M. Goehringer"'
Autor:
Uyenlinh L Mirshahi, Kevin Colclough, Caroline F Wright, Andrew R Wood, Robin N Beaumont, Jessica Tyrrell, Thomas W Laver, Richard Stahl, Alicia Golden, Jessica M Goehringer, Timothy F Frayling, Andrew T Hattersley, David J Carey, Michael N Weedon, Kashyap A Patel
Publikováno v:
American journal of human genetics. 109(11)
The true prevalence and penetrance of monogenic disease variants are often not known because of clinical-referral ascertainment bias. We comprehensively assess the penetrance and prevalence of pathogenic variants in HNF1A, HNF4A, and GCK that account
Autor:
Amr H. Wardeh, Ying S. Hu, Catarina B. Manney, Alan R. Shuldiner, Joseph B. Leader, Janet L. Williams, David J. Carey, Toni I. Pollin, Jeffrey Staples, Jessica M. Goehringer, Uyenlinh L. Mirshahi
Publikováno v:
Diabetes. 68
Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes attributed to a highly penetrant variant in one of several genes, including GCK. GCK-MODY rarely requires pharmacotherapy, however, the clinical management of pregnant mother
Publikováno v:
neurogenetics. 18:179-181