(Q34329145)

1 August 2017

title

Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. (English)

1 reference

1 August 2017

main subject

osteogenesis imperfecta

0 references

1 reference

Frank Rauch

1

1 reference

1 August 2017

Liljana Lalic

series ordinal

2

1 reference

1 August 2017

Peter Roughley

series ordinal

3

1 reference

1 August 2017

Francis H Glorieux

series ordinal

4

1 reference

1 August 2017

publication date

20 January 2010

1 reference

European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

18

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1 August 2017

issue

6

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1 August 2017

page(s)

642-647

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Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

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=2987338

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=2987338

6 July 2018

Osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987338

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987338

The Human Collagen Mutation Database 1998.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987338

The human type I collagen mutation database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987338

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987338

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective 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=2987338

Brittle bones--fragile molecules: disorders of collagen gene structure and 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=2987338

Genetic heterogeneity in osteogenesis imperfecta

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987338

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.242

Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.242

Natural history of blue sclerae in osteogenesis imperfecta.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.242

COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987338

Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2

27 October 2018

1 reference

12 December 2020

Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism

1 reference

12 December 2020

Osteogenesis imperfecta: clinical, biochemical and molecular findings

1 reference

12 December 2020

Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.242

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1 August 2017

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1 August 2017

1 reference