(Q57197766)

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

scientific article published on 01 February 2011

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21239989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21239989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

osteogenesis imperfecta

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6

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20 January 2020

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Shawna M Pyott

1

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20 January 2020

Melanie G Pepin

2

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20 January 2020

Ulrike Schwarze

3

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20 January 2020

Kathleen Yang

4

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20 January 2020

Gretchen Smith

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20 January 2020

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1 February 2011

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20 January 2020

Genetics in Medicine

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20 January 2020

13

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20 January 2020

2

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20 January 2020

125-130

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20 January 2020

https://scigraph.springernature.com/pub.10.1097/gim.0b013e318202e0f6

0 references

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

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/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

PPIB mutations cause severe osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

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

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

Blimp1 is a critical determinant of the germ cell lineage in mice

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

How is the mouse germ-cell lineage established?

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318202E0F6

21 January 2018

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