Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations-Reference-Cited by-同舟云学术

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Published:2005-06 Issue:6 Volume:76 Page:1008-1022
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Ragge Nicola K.,Brown Alison G.,Poloschek Charlotte M.,Lorenz Birgit,Henderson R. Alex,Clarke Michael P.,Russell-Eggitt Isabelle,Fielder Alistair,Gerrelli Dianne,Martinez-Barbera Juan Pedro,Ruddle Piers,Hurst Jane,Collin J. Richard O.,Salt Alison,Cooper Simon T.,Thompson Pamela J.,Sisodiya Sanjay M.,Williamson Kathleen A.,FitzPatrick David R.,Heyningen Veronica van,Hanson Isabel M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference54 articles.

1. Forebrain and midbrain regions are deleted in Otx2−/− mutants due to a defective anterior neuroectoderm specification during gastrulation;Acampora;Development,1995

2. Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma;Aijaz;Invest Ophthalmol Vis Sci,2004

3. A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain;Ang;Development,1996

4. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies;Azuma;Am J Hum Genet,1999

5. Implication of OTX2 in pigment epithelium determination and neural retina differentiation;Bovolenta;J Neurosci,1997

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