Results 171 to 180 of about 2,635 (188)

INTRAOCULAR CORRECTION IN MICROCORNEA (CLINICAL CASE)

Bulletin of Pirogov National Medical & Surgical Center, 2022
L.L. ARUTYUNYAN, E.V. KIM, C.G. KHLIYAN, I.A. ARUTYUNYAN, S.Y. KOPAEV   +4 more
openaire   +1 more source

PAX6 Mutations Identified in 4 of 35 Families with Microcornea

Investigative Ophthalmology and Visual Science, 2012
Qingjiong Zhang, Xiangming Guo, Wenmin Sun   +2 more
exaly  

A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer†

Human Mutation, 2011
Yong-Bin Yan, Kai Jie Wang
exaly  

Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family

Clinical Genetics, 1985
G Gorgone
exaly  

Microcornea, glaucoma, and absent frontal sinus

The Journal of Pediatrics, 1995
Arijit Chattopadhyay, Archana S. Kher, Burjor A. Bharucha, MD, Anjali D. Nicholson   +3 more
openaire   +1 more source

Genetic Heterogeneity in Microcornea-Cataract: Five Novel Mutations in CRYAA, CRYGD, and GJA8

Investigative Ophthalmology and Visual Science, 2007
Hans Eiberg, James Hejtmancik, Lars H. Hansen   +2 more
exaly  

Confirmation of the colobomatous macrophthalmia with microcornea syndrome: Report of another family

American Journal of Medical Genetics, Part A, 1998
Alberto Verrotti, Paola Fusilli, Francesco Chiarelli   +2 more
exaly  

Autosomal dominant cataracts and microcornea.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 1980
R C, Polomeno, C, Cummings
openaire   +1 more source

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA)†

American Journal of Medical Genetics, Part A, 2008
M Anne Spence, Pamela Flodman, J Bronwyn Bateman   +2 more
exaly  

A SYNDROME INVOLVING CONGENITAL CATARACTS OF UNUSUAL MORPHOLOGY, MICROCORNEA, ABNORMAL IRIDES, NYSTAGMUS AND CONGENITAL GLAUCOMA, INHERITED AS AN AUTOSOMAL DOMINANT TRAIT

Clinical and Experimental Ophthalmology, 1982
R H West
exaly