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Ophthalmic Genetics Volume 28, 2007 - Issue 4
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Case Report

Genetic Screening of Leber Congenital Amaurosis in a Large Consanguineous Iranian Family

Tayebeh Rezaie Molecular Ophthalmic Genetics Laboratory, Department of Surgery, University of Connecticut Health Center, Farmington, Connecticut, USA
,
Mohammad-Hassan Karimi-Nejad Karimi-Nejad Pathology & Genetic Center, Tehran, Iran
,
Mohammad-Reza Meshkat Department of Ophthalmology, Kerman University of Medical Sciences, Kerman, Iran
,
Saeed Sohbati Karimi-Nejad Pathology & Genetic Center, Tehran, Iran
,
Roxana Karimi-Nejad Karimi-Nejad Pathology & Genetic Center, Tehran, Iran
,
Hossein Najmabadi Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
&
Mansoor Sarfarazi Molecular Ophthalmic Genetics Laboratory, Department of Surgery, University of Connecticut Health Center, Farmington, Connecticut, USA
 show all
Pages 224-228 | Received 20 Jul 2007, Accepted 03 Sep 2007, Published online: 08 Jul 2009

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Evren Gumus & Armagan Ozgur. (2020) A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. Fetal and Pediatric Pathology 39:3, pages 251-258.
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Articles from other publishers (5)

Ahmad Reza Salehi Chaleshtori, Masoud Garshasbi, Ali Salehi & Mehrdad Noruzinia. (2020) Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. European Journal of Medical Genetics 63:3, pages 103750.
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Ahmad Reza Salehi Chaleshtori, Masoud Garshasbi & Ali Salehi. (2019) A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report. Journal of Current Ophthalmology 31:4, pages 458-462.
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Dror Sharon, Hanna Wimberg, Yael Kinarty & Karl-Wilhelm Koch. (2018) Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. Progress in Retinal and Eye Research 63, pages 69-91.
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Xiaolei Ma, Annie Beuve & Focco van den Akker. (2010) Crystal structure of the signaling helix coiled-coil domain of the β1 subunit of the soluble guanylyl cyclase. BMC Structural Biology 10:1.
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Michael C. BrodskyMichael C. Brodsky. 2010. Pediatric Neuro-Ophthalmology. Pediatric Neuro-Ophthalmology 155 211 .

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