about
Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseasesVariation 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 helixA preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologistOcriplasmin: who is the best candidate?Dysmorphology demystifiedSelf/nonself perception, reproduction and the extended MHCLoss of Lysyl Oxidase-like 3 Attenuates Embryonic Lung Development in MiceLoss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in miceGenome-wide association analyses identify three new susceptibility loci for primary angle closure glaucomaThe etiology of cleft palate formation in BMP7-deficient mice.Robin sequence: from diagnosis to development of an effective management planImputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.Cleft lip and palate genetics and application in early embryological development.COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.Nonsense-mediated decay in genetic disease: friend or foe?A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome.MHC-assortative facial preferences in humans.Ethnic variation in rhegmatogenous retinal detachments.Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagenLessons from genetic forms of osteoarthritis for the pathogenesis of the diseaseEvaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic EyesMutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndromeMutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Mosaicism in Stickler syndrome.A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndromeEvaluation and management of pediatric rhegmatogenous retinal detachmentRadiographic and tomographic analysis in patients with stickler syndrome type I.A novel zinc finger protein 219-like (ZNF219L) is involved in the regulation of collagen type 2 alpha 1a (col2a1a) gene expression in zebrafish notochordAlternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.Genetics of cleft lip and cleft palate.Craniofacial disorders associated with airway obstruction in the neonate.Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation.A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome.
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Clinical and Molecular genetics of Stickler syndrome
@ast
Clinical and Molecular genetics of Stickler syndrome
@en
Clinical and Molecular genetics of Stickler syndrome
@nl
type
label
Clinical and Molecular genetics of Stickler syndrome
@ast
Clinical and Molecular genetics of Stickler syndrome
@en
Clinical and Molecular genetics of Stickler syndrome
@nl
prefLabel
Clinical and Molecular genetics of Stickler syndrome
@ast
Clinical and Molecular genetics of Stickler syndrome
@en
Clinical and Molecular genetics of Stickler syndrome
@nl
P2860
P3181
P1476
Clinical and Molecular genetics of Stickler syndrome
@en
P2093
P2860
P3181
P407
P577
1999-05-01T00:00:00Z