Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Banu T. Öztürk"'
Autor:
Monte A. Del Monte, Berendina De Vries, Arnold London, Wai-Man Chan, Emin Cumhur Sener, Anat Loewenstein, Joseph L. Demer, Elizabeth C. Engle, Nakamichi Saito, Robert P. Cruse, Michael C. Brodsky, A. Nurten Akarsu, Roger H. Johnson, Mark S. Ruttum, Alina A. Zubcov, Alex V. Levin, Naomichi Matsumoto, Blaine L. Hart, Teresa de Berardinis, Lionel Kowal, Ravi Battu, Marlene C. Vogel, Michael O'Keefe, Thomas J. Carlow, Frank Hanisch, Banu T. Öztürk, Caroline Andrews, Robert D. Letson, Moshe Lazar, Eiichiro Uyama, Craig A. McKeown, James A. Katowitz, Scott M. Goldstein, Piergiorgio Franceschini, Richard M. Robb, Lisa Morris, Adriano Magli, Koki Yamada, Peter Roggenkäemper, Nicolas Krawiecki, Willem A. Houtman, John M. Shoffner, Anna Newlin, Elias I. Traboulsi, Irene Gottlob
Publikováno v:
Nature Genetics, 35(4), 318-321. Nature Publishing Group
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503f38e3254efb202533148c92abe089
https://research.rug.nl/en/publications/7656e8c1-dbb1-45bb-82c1-1fab398a6a9c
https://research.rug.nl/en/publications/7656e8c1-dbb1-45bb-82c1-1fab398a6a9c
Autor:
Wai-Man Chan, A. Nurten Akarsu, V. Gagliardi, Teresa de Berardinis, Thomas M. Bosley, Koki Yamada, Timothy J. Sullivan, Joseph L. Demer, Irene Gottlob, Caroline Andrews, Sudha Awasthi-Patney, Paul B. Mullaney, Louise J. Sabol, Emin Cumhur Sener, Joseph F. Rizzo, Banu T. Öztürk, Johan Zwaan, Adriano Magli, Clara E. de Uzcategui, Marlene C. Vogel, Elizabeth C. Engle, Elias I. Traboulsi, David A. Mackey, Peter Roggenkäemper, Nicolas Uzcategui, Bruria Ben-Zeev
PURPOSE. Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::febecb33f344e22bd8c669802223272d
http://hdl.handle.net/11655/14083
http://hdl.handle.net/11655/14083
