Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Tracy Cartwright"'
Autor:
Mustafa K. Khokha, Thomas Mitzelfelt, Monica Konstantino, Weizhen Ji, Tracy Cartwright, Emily K Mis, Annalisa G Sega, Stanley F. Nelson, Hane Lee, Lauren Jeffries, Elysa J. Marco, Martin G. Martin, Christina G.S. Palmer, Rebecca Signer, Saquib A. Lakhani, Julian A. Martinez-Agosto
Publikováno v:
Am J Med Genet A
De novo heterozygous variants in the brain-specific transcription factor Neuronal Differentiation Factor 2 (NEUROD2) have been recently associated with early-onset epileptic encephalopathy and developmental delay. Here, we report an adolescent with d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e0f50dfbdd8d5d37609427a36b3f9d
https://doi.org/10.1002/ajmg.a.62064
https://doi.org/10.1002/ajmg.a.62064
Autor:
Perrine Charles, Kathleen Brown, Isabelle Thiffault, Emily Alderman, Uwe Kornak, Shuxi Liu, Xin Wang, Carol J Saunders, Carrie Costin, Erin Torti, Muhammad Zafar, Elysa J. Marco, S. Fehr, Kimberly Foss, Lara Segebrecht, Aida Telegrafi, Denise Horn, Thoa K. Ha, Maxime Cadieux-Dion, Sylvia Stockler-Ipsiroglu, Keely M Fitzgerald, Emily Fleming, Nadja Ehmke, Anne Chun-Hui Tsai, Yue Si, Tracy Cartwright, Ghayda M. Mirzaa, Kirsty McWalter, Boris Keren, Eric T. Rush, Yanmin Chen, Gabriele Hildebrand, Max Schubach, Anne Slavotinek, Cornelius F. Boerkoel, Simone Race, Marie T. McDonald, Björn Fischer-Zirnsak
Publikováno v:
The American Journal of Human Genetics. 105:631-639
Notch signaling is an established developmental pathway for brain morphogenesis. Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay, intellectual disability, and brain malformations h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c8b030befe4d857e2885b2463724650
https://doi.org/10.1016/j.ajhg.2019.07.002
https://doi.org/10.1016/j.ajhg.2019.07.002