(Q34300775)

1 August 2017

title

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene (English)

1 reference

1 August 2017

2

Carlos A Bacino

1 reference

1 August 2017

Stuart W Tompson

1

1 reference

1 August 2017

Nicole P Safina

3

1 reference

1 August 2017

Michael B Bober

4

1 reference

1 August 2017

Virginia K Proud

5

1 reference

1 August 2017

Tara Funari

6

1 reference

1 August 2017

Michael F Wangler

7

1 reference

1 August 2017

Lisette Nevarez

8

1 reference

1 August 2017

Leena Ala-Kokko

9

1 reference

1 August 2017

William R Wilcox

10

1 reference

1 August 2017

David R Eyre

11

1 reference

1 August 2017

Deborah Krakow

12

1 reference

1 August 2017

Daniel H Cohn

13

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1 August 2017

language of work or name

English

0 references

publication date

28 October 2010

1 reference

American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

87

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1 August 2017

issue

5

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1 August 2017

page(s)

708-712

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Disease gene characterization through large-scale co-expression analysis

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Differences in chain usage and cross-linking specificities of cartilage type V/XI collagen isoforms with age and tissue

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Celsius: a community resource for Affymetrix microarray data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Recent developments in cartilage research: matrix biology of the collagen II/IX/XI heterofibril network

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Fetal fibrochondrogenesis at 26 weeks' gestation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

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 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

A new case of fibrochondrogenesis from Spain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Fibrochondrogenesis: radiologic and histologic studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

The collagens of articular cartilage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Two sibs with fibrochondrogenesis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978944

Fibrochondrogenesis in male twins at 24 weeks gestation

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21035103

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Recurrence of fibrochondrogenesis in a consanguineous family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21035103

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.10.009

1 reference

release_wxefoqr745gbbihzdacbwnncfu

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wxefoqr745gbbihzdacbwnncfu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

2978944

1 reference

1 August 2017

1 reference