(Q44540359)

4 December 2017

title

Excess paternal age in apparently sporadic osteogenesis imperfecta (English)

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4 December 2017

main subject

osteogenesis imperfecta

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author name string

Blumsohn A

series ordinal

1

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4 December 2017

McAllion SJ

series ordinal

2

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4 December 2017

Paterson CR

series ordinal

3

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4 December 2017

publication date

1 May 2001

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American Journal of Medical Genetics Part A

4 December 2017

published in

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4 December 2017

volume

100

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4 December 2017

issue

4

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4 December 2017

page(s)

280-286

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A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta

4 December 2017

cites work

1 reference

Osteogenesis imperfecta: translation of mutation to phenotype

21 January 2018

1 reference

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease

21 January 2018

1 reference

Causes of death in osteogenesis imperfecta

21 January 2018

1 reference

Achondroplasia--a genetic and statistical survey

21 January 2018

1 reference

Genetic heterogeneity in osteogenesis imperfecta

21 January 2018

1 reference

Parental age and mutation

21 January 2018

1 reference

High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862-1994

21 January 2018

1 reference

Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV

21 January 2018

1 reference

Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online

21 January 2018

1 reference

Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1)

21 January 2018

1 reference

Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

21 January 2018

1 reference

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density

21 January 2018

1 reference

Osteogenesis imperfecta type IIA: evidence for dominant inheritance

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1269

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4 December 2017

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