(Q35246037)

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Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

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Europe PubMed Central

PubMed publication ID

7 August 2017

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

osteogenesis imperfecta

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author name string

P H Byers

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

P Tsipouras

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

J F Bonadio

3

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

B J Starman

4

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

R C Schwartz

5

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

language of work or name

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publication date

1 February 1988

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Europe PubMed Central

PubMed publication ID

7 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

7 August 2017

42

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Europe PubMed Central

PubMed publication ID

7 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

237-248

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

A pedigree of aniridia with a discussion of germinal mosaicism in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Possible gonadal mosaicism in a family with hemoglobin Köln

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Dominant ectrodactyly and possible germinal mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Collagen defects in lethal perinatal osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Osteogenesis imperfecta type IIA: evidence for dominant inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Molecular basis of inherited disorders of collagen biosynthesis: implications for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 2018

Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

12 July 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=1715253

12 July 2018

Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

26 September 2018

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

26 September 2018

Germinal mosaicism in Apert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

26 September 2018

Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

26 September 2018

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715253

15 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peptide mapping of collagen chains using CNBr cleavage of proteins within polyacrylamide gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta: update and perspective

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-ray-induced mutations in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI Type II)

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrence risk in osteogenesis imperfecta congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence from mutable genes concerning the origin of the germ line

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/3341380

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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