(Q24656156)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

main subject

osteogenesis imperfecta

0 references

author

Andrew Green

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

John J. Mitchell

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Peter H. Byers

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

22

David L Rimoin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Dustin Baldridge

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Ulrike Schwarze

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Roy Morello

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Jennifer Lennington

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Terry K Bertin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

James M Pace

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Melanie G Pepin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Maryann Weis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

David R Eyre

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Jennifer Walsh

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Deborah Lambert

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Haynes Robinson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Melonie Michelson

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Gunnar Houge

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Carl Lindman

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Judith Martin

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Jewell Ward

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Emmanuelle Lemyre

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Deborah Krakow

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Daniel H Cohn

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Brendan Lee

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

language of work or name

English

0 references

publication date

1 December 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

1435-1442

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

9 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

28 September 2017

Osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

Collagens, modifying enzymes and their mutations in humans, flies and worms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

Health care needs of travellers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

Congenital anomalies in the Irish traveller community

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2671575

Experience with bisphosphonates in osteogenesis imperfecta

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18566967

12 December 2020

inferred from PubMed ID database lookup

Classification of osteogenesis imperfect

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18566967

12 December 2020

inferred from PubMed ID database lookup

Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18566967

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/HUMU.20799

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

release_ttsks2mpzncw7hatqqjf5kiycy

9 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ttsks2mpzncw7hatqqjf5kiycy

24 November 2022

mapped directly with Wikidata item

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566967%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

2 references