(Q41141416)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

title

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

multicenter clinical trial

15 March 2020

main subject

0 references

osteogenesis imperfecta

0 references

author

Frank Rauch

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Philippe M. Campeau

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Robert D. Steiner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Michael B Bober

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Peter H. Byers

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

author name string

R M Patel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

S C S Nagamani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

D Cuthbertson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

J P Krischer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

J R Shapiro

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

P A Smith

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

M Pepin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

M Durigova

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

F H Glorieux

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

B H Lee

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

T Hart

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

V R Sutton

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

publication date

30 May 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

page(s)

133-140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

15 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Mutations in WNT1 cause different forms of bone fragility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Pregnancy outcomes among patients with vasculitis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

The Rare Diseases Clinical Research Network Contact Registry update: features and functionality

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Severe osteogenesis imperfecta in cyclophilin B-deficient mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

PPIB mutations cause severe osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Progress in childhood cancer: 50 years of research collaboration, a report from the Children's Oncology Group

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Bisphosphonate therapy for osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Long-term risk of incident vertebral fractures

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

27 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=5529599

Axial and appendicular bone density predict fractures in older women

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Genetic heterogeneity in osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Evaluation of oral problems in an osteogenesis imperfecta population.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Hearing and middle ear function in osteogenesis imperfecta.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

BMD at multiple sites and risk of fracture of multiple types: long-term results from the Study of Osteoporotic Fractures.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Intravenous neridronate in adults with osteogenesis imperfecta

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5529599

Effectiveness of Bone Density Measurement for Predicting Osteoporotic Fractures in Clinical Practice

19 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FCGE.12409

Intravenous Neridronate in Children With Osteogenesis Imperfecta: A Randomized Controlled Study

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FCGE.12409

Dental aberrations in children and adolescents with osteogenesis imperfecta

21 January 2018

1 reference

12 December 2020

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

12 December 2020

Predictive Value of BMD for Hip and Other Fractures

1 reference

12 December 2020

Mutations in WNT1 are a cause of osteogenesis imperfecta

1 reference

12 December 2020

Rare disease clinical research network's urea cycle consortium delivers a successful clinical trial to improve alternate pathway therapy

1 reference

12 December 2020

Identifiers

DOI

10.1111/CGE.12409

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754836%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

PubMed publication ID

24754836

1 reference