Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist - Wikidata - awgldk - TriplyDB

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

http://www.wikidata.org/entity/Q27006965

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Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma Alternative splicing of type II procollagen: IIB or not IIB?Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea Hearing impairment in Stickler syndrome: a systematic review.Ophthalmic and molecular genetic findings in Kniest dysplasia.Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome Proteomic Analysis of the Bovine and Human Ciliary Zonule.Genetic testing for inherited ocular disease: delivering on the promise at last?Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome.Stickler syndrome.Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography.Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome.Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?

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Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

http://www.wikidata.org/entity/Q27006965

description

2011 nî lūn-bûn

@nan

2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

@ast

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

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Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

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type

label

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

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Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

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Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

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prefLabel

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

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Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

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Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

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Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

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A J Richards

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A M McNinch

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A V Poulson

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B Silverman

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M P Snead

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P2860

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix

Clinical features of type 2 Stickler syndrome

Clinical and Molecular genetics of Stickler syndrome

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene

Auditory dysfunction in Stickler syndrome

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

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