(Q34691777)

4 August 2017

title

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

1 reference

4 August 2017

main subject

osteogenesis imperfecta

0 references

author name string

A Marlowe

series ordinal

1

1 reference

4 August 2017

M G Pepin

series ordinal

2

1 reference

4 August 2017

P H Byers

series ordinal

3

1 reference

4 August 2017

language of work or name

English

0 references

publication date

1 June 2002

1 reference

Journal of Medical Genetics

4 August 2017

published in

1 reference

4 August 2017

volume

39

1 reference

4 August 2017

issue

6

1 reference

4 August 2017

page(s)

382-386

1 reference

Maltreatment and disabilities: a population-based epidemiological study

4 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=1735162

Ocular findings in glutaric aciduria type 1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

The mistaken diagnosis of child abuse: a three-year USAF Medical Center analysis and literature review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Kinky hair syndrome: serial study of radiological findings with emphasis on the similarity to the battered child syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Osteogenesis imperfecta: a genetic, radiological, and epidemiological study.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Birth prevalence rates of skeletal dysplasias.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Are preterm infants at risk for subsequent fractures?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Radiologic imaging of inflicted injury in the child abuse syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Differentiation of child abuse from osteogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

A sequence polymorphism in the 3'-nontranslated region of the pro alpha 1 chain of type I procollagen

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Genetic heterogeneity in osteogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735162

Vitamin D Deficiency Rickets Simulating Child Abuse

26 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Fractures in premature infants

1 reference

12 December 2020

Child abuse or osteogenesis imperfecta: how can we tell?

1 reference

12 December 2020

Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta

1 reference

12 December 2020

Osteogenesis imperfecta

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.39.6.382

1 reference

4 August 2017

1 reference

4 August 2017

1 reference