Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma-Reference-Cited by-同舟云学术

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Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

Published:2015-06 Issue:2 Volume:105 Page:96-113
ISSN:1542-975X
Container-title:Birth Defects Research Part C: Embryo Today: Reviews
language:en
Short-container-title:Birth Defect Res C

Author:

Reis Linda M.¹,Semina Elena V.¹²³

Affiliation:

1. Department of Pediatrics and Children's Research Institute; Medical College of Wisconsin; Milwaukee Wisconsin

2. Department of Ophthalmology; Medical College of Wisconsin; Milwaukee Wisconsin

3. Department of Cell Biology Neurobiology; and Anatomy; Medical College of Wisconsin; Milwaukee Wisconsin

Funder

National Eye Institute

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine

Reference179 articles.

1. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families;Abouzeid;Hum Mutat,2014

2. RAX and anophthalmia in humans: evidence of brain anomalies;Abouzeid;Mol Vis,2012

3. Molecular mechanisms of optic vesicle development: complexities, ambiguities and controversies;Adler;Dev Biol,2007

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

5. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia;Akizu;Am J Hum Genet,2013

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1. Construction and Identification of a Novel Mice Model of Microphthalmia;Translational Vision Science & Technology;2024-07-15

2. Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome;European Journal of Human Genetics;2023-12-05

3. The impact of genetic testing for microphthalmia, anophthalmia, and coloboma: experiences from a translational approach;Expert Review of Ophthalmology;2023-11-02

4. Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome;Investigative Opthalmology & Visual Science;2023-03-09

5. Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives;Clinical Ophthalmology;2023-03

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