(Q55982308)

1

object named as

Ranad Shaheen

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author name string

Mohammed Al-Owain

2

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Eissa Faqeih

3

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Nadia Al-Hashmi

4

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Ali Awaji

5

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Zayed Al-Zayed

American Journal of Medical Genetics

6

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language of work or name

English

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publication date

12 May 2011

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published in

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volume

155

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page(s)

1448-1452

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issue

6

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cites work

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Prenatal diagnosis of Bruck syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Osteogenesis imperfecta with joint contractures: Bruck syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

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/10.1002%2FAJMG.A.34025

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Identification of tropoelastin as a ligand for the 65-kD FK506-binding protein, FKBP65, in the secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Bruck syndrome: neonatal presentation and natural course in three patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

PPIB mutations cause severe osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34025