Results 181 to 190 of about 2,270 (207)

A Systematic Review of the Clinical Manifestations and Diagnostic Methods for Macular Coloboma

Current Eye Research, 2021
Yongwei Guo, Jinhua Liu, Wanlin Fan
exaly  

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

Genetics in Medicine, 2022
Nicholas Owen, Rodrigo M Young, Jonathan Eintracht   +2 more
exaly  

Ocular coloboma: Genetic variants reveal a dynamic model of eye development

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2020
Kevin H Yoon, Ordan J Lehmann, Andrew J Waskiewicz   +2 more
exaly  

Choroidal Coloboma

2018
openaire   +1 more source

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Proceedings of the National Academy of Sciences of the United States of America, 2015
Ivan Conte, Annamaria Carissimo, Marianthi Karali   +2 more
exaly  

The genetic architecture of microphthalmia, anophthalmia and coloboma

European Journal of Medical Genetics, 2014
Kathleen A Williamson, David R Fitzpatrick   +1 more
exaly  

Choroidal neovascularization complicating papillorenal (renal coloboma) syndrome

Journal Français d'Ophtalmologie
C, Barresi, Y, Abdelmassih, T, Chapron
openaire   +2 more sources

Renal-coloboma syndrome: a multi-system developmental disorder caused byPAX2mutations

Clinical Genetics, 1999
Lisa A Schimmenti
exaly  

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Human Mutation, 2012
Pierre Cochat, Stephane Decramer, Marni J Falk   +2 more
exaly  

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

Ophthalmic Epidemiology, 2016
Karen Grønskov, René Holst, Zeynep Tumer   +2 more
exaly