Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients (Q41735203)

8 October 2017

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients (English)

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genotype-phenotype correlation

8 October 2017

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49

Anne De Paepe

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Andrew Green

Andrew Green

16

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Geert Mortier

Geert R Mortier

Kristina Lagerstedt Robinson

53

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Kristina Lagerstedt

27

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Valérie Cormier-Daire

Valerie Cormier-Daire

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Raoul Hennekam

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Raoul C M Hennekam

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8 October 2017

Kristien P Hoornaert

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8 October 2017

Inge Vereecke

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8 October 2017

Chantal Dewinter

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8 October 2017

Thomas Rosenberg

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Frits A Beemer

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Jules G Leroy

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Laila Bendix

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Erik Björck

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Maryse Bonduelle

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Odile Boute

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8 October 2017

Christine De Die-Smulders

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8 October 2017

Anne Dieux-Coeslier

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8 October 2017

Hélène Dollfus

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Mariet Elting

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Veronica I Guerci

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Yvonne Hilhorts-Hofstee

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Muriel Holder

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Carel Hoyng

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Kristi J Jones

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Dragana Josifova

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8 October 2017

Ilkka Kaitila

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Suzanne Kjaergaard

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Yolande H Kroes

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Melissa Lees

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Martine Lemerrer

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Cinzia Magnani

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Carlo Marcelis

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Loreto Martorell

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8 October 2017

Michèle Mathieu

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8 October 2017

Meriel McEntagart

34

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8 October 2017

Angela Mendicino

35

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8 October 2017

Jenny Morton

36

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8 October 2017

Gabrielli Orazio

37

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8 October 2017

Véronique Paquis

38

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8 October 2017

Orit Reish

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8 October 2017

Kalle O J Simola

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8 October 2017

Sarah F Smithson

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8 October 2017

Karen I Temple

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8 October 2017

Elisabeth Van Aken

43

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8 October 2017

Yolande Van Bever

44

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8 October 2017

Jenneke van den Ende

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8 October 2017

Johanna M Van Hagen

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8 October 2017

Leopoldo Zelante

47

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8 October 2017

Riina Zordania

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8 October 2017

Bart P Leroy

50

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8 October 2017

Marc De Buyzere

51

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8 October 2017

Paul J Coucke

52

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8 October 2017

24 February 2010

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European Journal of Human Genetics

8 October 2017

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18

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8

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8 October 2017

872-880

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A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

8 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Denaturing high-performance liquid chromatography: A review

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Clinical and Molecular genetics of Stickler syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Clinical prediction rules. A review and suggested modifications of methodological standards

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Multivariable prognostic models: issues in developing models, evaluating assumptions and adequacy, and measuring and reducing errors

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

The type II collagenopathies: a spectrum of chondrodysplasias

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Probabilistic prediction in patient management and clinical trials

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987380

Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.23

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20179744

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20179744

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.23

1 reference

Dimensions Publication ID

8 October 2017

0 references

1 reference

8 October 2017

PubMed publication ID

20179744

1 reference