Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
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Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XWhen flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in childrenEndoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis.Identification of an evolutionarily conserved regulatory element of the zebrafish col2a1a gene.Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in KoreaHearing impairment in Stickler syndrome: a systematic review.Mosaicism in Stickler syndrome.A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversityMutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndromeHereditary pediatric cataract on the Arabian Peninsula.ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.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.Syndromes of hearing loss associated with visual loss.Genetic testing for inherited ocular disease: delivering on the promise at last?Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Association between SCO2 mutation and extreme myopia in Japanese patients.A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literatureMutation-based growth charts for SEDC and other COL2A1 related dysplasias.Stickler syndrome associated with epilepsy: report of three cases.Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypePhenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?
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P2860
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Stickler syndrome caused by CO ...... n in a series of 100 patients.
@en
type
label
Stickler syndrome caused by CO ...... n in a series of 100 patients.
@en
prefLabel
Stickler syndrome caused by CO ...... n in a series of 100 patients.
@en
P2093
P2860
P50
P356
P1476
Stickler syndrome caused by CO ...... n in a series of 100 patients.
@en
P2093
Angela Mendicino
Anne Dieux-Coeslier
Bart P Leroy
Carel Hoyng
Carlo Marcelis
Chantal Dewinter
Christine De Die-Smulders
Cinzia Magnani
Dragana Josifova
Elisabeth Van Aken
P2860
P2888
P304
P356
10.1038/EJHG.2010.23
P577
2010-02-24T00:00:00Z
P5875
P6179
1033433927