Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Gulsen Akay Tayfun"'
Autor:
Kirsten Ecklund, Gulsen Akay Tayfun, Sherin Shaaban, Azmi Hamzaoglu, Elias I. Traboulsi, Wai-Man Chan, Caroline D. Robson, Nicole M. Gilette, Silvio Alessandro Di Gioia, Nursel Elcioglu, Elizabeth C. Engle, Beyhan Tüysüz
Publikováno v:
American journal of human genetics. 103(1)
MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages of myogenesis. Here, we report three consanguineous familie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb2e7f2bb59e5bf223dd8a99ff5be19b
https://pubmed.ncbi.nlm.nih.gov/29887215
https://pubmed.ncbi.nlm.nih.gov/29887215
Autor:
Alper Gezdirici, Tomasz Gambin, Donna M. Muzny, Eric Boerwinkle, Elif Yilmaz, James R. Lupski, Mehmed M. Atik, Nursel Elcioglu, Yavuz Bayram, Tamar Harel, Wu Lin Charng, Ender Karaca, Richard A. Gibbs, Timur Yildirim, Ayman W. El-Hattab, Gulsen Akay Tayfun, Tamer Celik, Ali Karaman, Zeynep Coban Akdemir, Ozge Ozalp Yuregir, Sedat Işıkay, Ilhan A. Bayhan, Davut Pehlivan, Hatip Aydin, Beyhan Tüysüz, Sevcan Tug Bozdogan, Shalini N. Jhangiani, Deniz Torun
BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567df337cdce266703b3af9d9dddf29f
https://hdl.handle.net/20.500.11776/9233
https://hdl.handle.net/20.500.11776/9233
Autor:
Mustafa Tekin, Sarah Bowdin, Guney Bademci, Mustafa Ozen, Steffen Thiel, Yasemin Alanay, Gül Yeşiltepe Mutlu, Gulsen Akay Tayfun, Nursel Elcioglu, Sevinç Şahin Atik, Joseph Foster, Ferda Ozkinay, Tahir Atik, Hülya Kayserili, Asuman Koparir, Umut Altunoglu
Publikováno v:
Atik, T, Koparir, A, Bademci, G, Foster, J, Altunoglu, U, Mutlu, G Y, Bowdin, S, Elcioglu, N, Tayfun, G A, Atik, S S, Ozen, M, Ozkinay, F, Alanay, Y, Kayserili, H, Thiel, S & Tekin, M 2015, ' Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome ', Orphanet Journal of Rare Diseases, vol. 10, pp. 128 . https://doi.org/10.1186/s13023-015-0345-3
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
We are grateful to the participating families. This study was partially supported by NIH R01DC009645 and the John T. and Winifred M. Hayward Foundation to M. T.
Background: 3MC1 syndrome is a rare autosomal recessive disorder characterized by in
Background: 3MC1 syndrome is a rare autosomal recessive disorder characterized by in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84466aa735f4f24e6e489f90f8bb3475
https://pure.au.dk/portal/da/publications/novel-masp1-mutations-are-associated-with-an-expanded-phenotype-in-3mc1-syndrome(4e5c6543-27f1-4088-98e4-1e79d1e01d51).html
https://pure.au.dk/portal/da/publications/novel-masp1-mutations-are-associated-with-an-expanded-phenotype-in-3mc1-syndrome(4e5c6543-27f1-4088-98e4-1e79d1e01d51).html