(Q57951762)

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Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

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scholarly article

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Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations (English)

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osteogenesis imperfecta

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José A Caparrós-Martín

object named as

José A. Caparrós-Martin

1

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object named as

Khalda Amr

6

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Victor Martínez-Glez

object named as

Victor Martínez-Glez

4

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object named as

Mona Aglan

11

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Victor L Ruiz-Perez

object named as

Victor L. Ruiz-Perez

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Samia A Temtamy

object named as

Samia Temtamy

10

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author name string

María Valencia

2

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Veronica Pulido

3

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Inmaculada Rueda-Arenas

5

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Chantal Farra

7

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Pablo Lapunzina

8

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language of work or name

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publication date

23 April 2013

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American Journal of Medical Genetics

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161

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6

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1354-1369

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A scoring system for the assessment of clinical severity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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.35938

21 January 2018

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Alu repeats and human genomic diversity

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Procollagen trafficking, processing and fibrillogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Hypercalciuria in osteogenesis imperfecta: a follow-up study to assess renal effects.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Pigment epithelium-derived factor: a potent inhibitor of angiogenesis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Introduction of a new standardized assessment score of spine morphology in osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

PPIB mutations cause severe osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Classification of Osteogenesis Imperfecta revisited

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Nosology and classification of genetic skeletal disorders: 2010 revision.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35938

21 January 2018

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10.1002/AJMG.A.35938

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