(Q43169907)

English

Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis

scientific article published in August 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

0 references

Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis (English)

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

osteogenesis imperfecta

0 references

author name string

W A Cabral

1

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

S Milgrom

2

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

A D Letocha

3

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

E Moriarty

4

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

J C Marini

5

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

language of work or name

0 references

publication date

1 August 2006

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

43

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

8

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

685-690

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

An update on conformation sensitive gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Complete mutation detection using unlabeled chemical cleavage.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

25 May 2018

Prediction of collagen stability from amino acid sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

15 August 2018

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564593

15 August 2018

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.040493

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 November 2017

ResearchGate publication ID

0 references

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