Mutations in IMPG1 cause vitelliform macular dystrophies. - Test2 - elhamkhani - TriplyDB

Mutations in IMPG1 cause vitelliform macular dystrophies.

Mutations in IMPG1 cause vitelliform macular dystrophies.

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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration Developments in Ocular Genetics: 2013 Annual Review Bestrophin 1 and retinal disease.Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.CONDITIONAL DISTANCE CORRELATION The clinical features of retinal disease due to a dominant mutation in RPE65.Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.Bestrophinopathy: An RPE-photoreceptor interface disease.Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.Expansion of divergent SEA domains in cell surface proteins and nucleoporin 54.

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Mutations in IMPG1 cause vitelliform macular dystrophies.

http://www.wikidata.org/entity/Q37162558

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 29 August 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Mutations in IMPG1 cause vitelliform macular dystrophies.

@en

Mutations in IMPG1 cause vitelliform macular dystrophies.

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type

label

Mutations in IMPG1 cause vitelliform macular dystrophies.

@en

Mutations in IMPG1 cause vitelliform macular dystrophies.

@nl

prefLabel

Mutations in IMPG1 cause vitelliform macular dystrophies.

@en

Mutations in IMPG1 cause vitelliform macular dystrophies.

@nl

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J.AJHG.2013.07.018

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American Journal of Human Genetics

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Mutations in IMPG1 cause vitelliform macular dystrophies

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Almudena Avila-Fernández

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Audrey Sénéchal

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Béatrice Bocquet

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Carmen Ayuso García

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Christian P Hamel

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Claire-Marie Dhaenens

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Delphine Allorge

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Frans P M Cremers

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Gaël Manes

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Guylène Le Meur

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SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes

Identification of the gene responsible for Best macular dystrophy

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).

Solution structure of the SEA domain from the murine homologue of ovarian cancer antigen CA125 (MUC16)

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16

Characterization of SPACR, a sialoprotein associated with cones and rods present in the interphotoreceptor matrix of the human retina: immunological and lectin binding analysis

Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

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571-578

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scholarly article

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10.1016/J.AJHG.2013.07.018

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3

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93

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José-Alain Sahel

Francesca Simonelli

Christina Zeitz

Elfride De Baere

Philippe Brabet

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2013-08-29T00:00:00Z

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256329867

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23993198

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3769927

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