(Q34031264)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22451222%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Recent advances in osteogenesis imperfecta (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22451222%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

main subject

osteogenesis imperfecta

0 references

author

Timothy Cundy

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22451222%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Tim Cundy

series ordinal

1

1 reference

30 July 2017

language of work or name

English

0 references

publication date

27 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22451222%20AND%20SRC:MED&resulttype=core&format=json

Calcified Tissue International

27 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22451222%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22451222%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22451222%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

439-449

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22451222%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00223-012-9588-3

27 January 2020

exact match

0 references

cites work

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

1 reference

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Procollagen trafficking, processing and fibrillogenesis.

21 January 2018

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The importance of proline residues in the structure, stability and susceptibility to proteolytic degradation of collagens

21 January 2018

1 reference

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Genetic heterogeneity in osteogenesis imperfecta

21 January 2018

1 reference

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Nosology and classification of genetic skeletal disorders: 2010 revision.

21 January 2018

1 reference

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Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

21 January 2018

1 reference

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Type V osteogenesis imperfecta: a new form of brittle bone disease

21 January 2018

1 reference

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Natural history of hyperplastic callus formation in osteogenesis imperfecta type V.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

21 January 2018

1 reference

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Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

21 January 2018

1 reference

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Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

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

21 January 2018

1 reference

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Mutations in SERPINF1 cause osteogenesis imperfecta type VI

21 January 2018

1 reference

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21 January 2018

1 reference

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

How common is hearing impairment in osteogenesis imperfecta?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

Intravenous neridronate in adults with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

21 January 2018

Osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

Cyclical intravenous pamidronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate

21 January 2018

1 reference

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Risedronate in the treatment of mild pediatric osteogenesis imperfecta: a randomized placebo-controlled study.

21 January 2018

1 reference

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Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

Large osteoclasts in pediatric osteogenesis imperfecta patients receiving intravenous pamidronate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3

Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9588-3