(Q42141526)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

title

The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

main subject

osteogenesis imperfecta

0 references

1 reference

A C Nicholls

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

G Osse

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

H G Schloon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

H G Lenard

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

S Deak

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

J C Myers

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

D J Prockop

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

W R Weigel

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

P Fryer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

F M Pope

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

language of work or name

English

0 references

publication date

1 August 1984

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

12 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

page(s)

257-262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

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

12 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049293

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049293

Thermal stability of type I and type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049293

Human type I procollagen genes are located on different chromosomes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049293

Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049293

Genetic heterogeneity in osteogenesis imperfecta

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049293

Transient hypoxaemia during sleep in chronic bronchitis and emphysema

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049293

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049293

Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/6492090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assignment of a type I collagen structural gene to human chromosome 7

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/6492090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.21.4.257

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6492090%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference