(Q35200439)

7 August 2017

title

Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta (English)

1 reference

7 August 2017

main subject

osteogenesis imperfecta

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

4 August 2023

author

Anne-Lise Børresen-Dale

2

object named as

A L Børresen

1 reference

7 August 2017

4

K Berg

1 reference

7 August 2017

P. Tsipouras

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

4 August 2023

A. L. Børresen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

4 August 2023

L. A. Dickson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

4 August 2023

D. J. Prockop

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

4 August 2023

F. Ramirez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

4 August 2023

language of work or name

English

0 references

publication date

1 November 1984

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6097110/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6097110/pdf/?tool=EBI

4 August 2023

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

https://europepmc.org/articles/PMC1684641

4 August 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

https://europepmc.org/articles/PMC1684641?pdf=render

4 August 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6097110

American Journal of Human Genetics

4 August 2023

published in

1 reference

7 August 2017

volume

36

1 reference

7 August 2017

issue

6

1 reference

7 August 2017

page(s)

1172-1179

1 reference

Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen

7 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=1684641

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Genetic disorders of collagen metabolism.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Genetic analysis of familial isolated growth hormone deficiency type I

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Molecular basis for familial isolated growth hormone deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Cloning a cDNA for the pro-alpha 2 chain of human type I collagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Detection of specific sequences among DNA fragments separated by gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Genetic heterogeneity in osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Classification of osteogenesis imperfecta by dental characteristics

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684641

Oral findings in osteogenesis imperfecta

26 September 2018

1 reference

12 December 2020

Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites

1 reference

12 December 2020

A Sensitive New Prenatal Test for Sickle-Cell Anemia

1 reference

12 December 2020

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis

1 reference

12 December 2020

Molecular Heterogeneity of Inherited Antithrombin III Deficiency

1 reference

12 December 2020

Identifiers

PMC publication ID

1684641

1 reference

7 August 2017

1 reference