(Q33675361)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

title

Osteogenesis imperfecta type IIA: evidence for dominant inheritance (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

main subject

osteogenesis imperfecta

0 references

author name string

I D Young

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

E M Thompson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

C M Hall

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

M E Pembrey

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

language of work or name

English

0 references

publication date

1 July 1987

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

29 September 2019

published in

1 reference

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29 September 2019

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

page(s)

386-389

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

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

29 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050145

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050145

Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050145

Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050145

Genetic heterogeneity in osteogenesis imperfecta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050145

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050145

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050145

The prenatal diagnosis of osteogenesis imperfecta congenita

30 October 2018

1 reference

12 December 2020

Recurrence risk in osteogenesis imperfecta congenita

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular genetics of collagen

1 reference

12 December 2020

Midtrimester diagnosis of osteogenesis imperfecta, type II

1 reference

12 December 2020

Osteogenesis imperfecta congenita. Features and prognosis of a heterogenous condition

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.24.7.386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3612714%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

1 reference