Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Olivia Nichini"'
Autor:
Daniel F. Schorderet, Gauillaume de la Houssaye, Leila Tiab, Francis L. Munier, Bozena Polok, Olivia Nichini, Helene Mayeur, Bahija Raji, Marc Abitbol, Gaeelle Boisset
Publikováno v:
The American Journal of Human Genetics. 82:1178-1184
Several dysmorphic syndromes affect the development of both the eye and the ear, but only a few are restricted to the eye and the external ear. We describe a developmental defect affecting the eye and the external ear in three members of a consanguin
Publikováno v:
Ophthalmic Genetics. 26:169-173
Purpose: Meesmann corneal dystrophy (MECD) is an autosomal dominant disorder affecting the corneal epithelium. It is caused by heterozygous mutations in KRT3 or KRT12 gene. Actually, 14 mutations have been reported, 1 in KRT3 and 13 in KRT12. These g
Autor:
Olivia Nichini, Daniel F. Schorderet
Publikováno v:
Gene. 411(1-2)
Early ocular development is controlled by a complex network of transcription factors, cell cycle regulators, and diffusible signalling molecules. Together, these molecules regulate cell proliferation and apoptosis, and specify retinal fate. NKX5-3 is