(Q53843469)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

main subject

osteogenesis imperfecta

0 references

author

Frank Rauch

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Ghalib K Bardai

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author name string

P Moffatt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

F H Glorieux

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

language of work or name

English

0 references

publication date

11 August 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

Osteoporosis International

20 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

3607-3613

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00198-016-3709-1

20 March 2020

exact match

0 references

cites work

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

Nosology and classification of genetic skeletal disorders: 2015 revision.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

21 January 2018

Osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

New perspectives on osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

Centers for Disease Control and Prevention 2000 Growth Charts for the United States: Improvements to the 1977 National Center for Health Statistics Version

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS00198-016-3709-1

21 January 2018

12 December 2020

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

1 reference

12 December 2020

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

12 December 2020

Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer

1 reference

12 December 2020

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics

1 reference

12 December 2020

Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI

1 reference

12 December 2020

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

1 reference

12 December 2020

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

1 reference

12 December 2020

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children

1 reference

12 December 2020

Osteogenesis imperfecta

1 reference

12 December 2020

10.1007/S00198-016-3709-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27509835%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference