Publications by authors named "Ramakrishna P Alur"

11Publications

High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.

Hum Mutat 2020 03 9;41(3):678-695. Epub 2019 Dec 9.

Pediatric, Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics and Visual Function Branch (OGVFB), National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, Maryland.

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March 2020

Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.

Invest Ophthalmol Vis Sci 2018 10;59(12):4945-4952

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.

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October 2018

nlz1 is required for cilia formation in zebrafish embryogenesis.

Dev Biol 2015 Oct 29;406(2):203-11. Epub 2015 Aug 29.

Unit on Pediatric, Developmental & Genetic Ophthalmology, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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October 2015

aldh7a1 regulates eye and limb development in zebrafish.

PLoS One 2014 8;9(7):e101782. Epub 2014 Jul 8.

Unit on Pediatric, Developmental and Genetic Ophthalmology, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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March 2015

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

Hum Mutat 2010 Jun;31(6):E1472-83

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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June 2010

Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.

PLoS Genet 2010 Mar 5;6(3):e1000870. Epub 2010 Mar 5.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America.

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March 2010

Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure.

Proc Natl Acad Sci U S A 2009 Feb 26;106(5):1462-7. Epub 2009 Jan 26.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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February 2009

Optic nerve axon number in mouse is regulated by PAX2.

J AAPOS 2008 Apr 21;12(2):117-21. Epub 2007 Dec 21.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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April 2008