Literature DB >> 6702896

Osteogenesis imperfecta: update and perspective.

P H Byers, J F Bonadio, B Steinmann.   

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Year:  1984        PMID： 6702896     DOI： 10.1002/ajmg.1320170206

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  14 in total

1.  Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Authors:  P H Byers; P Tsipouras; J F Bonadio; B J Starman; R C Schwartz
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

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

Authors:  D H Cohn; P H Byers; B Steinmann; R E Gelinas
Journal:  Proc Natl Acad Sci U S A       Date:  1986-08       Impact factor: 11.205

3.  Average locus differences in mutability related to protein "class": a hypothesis.

Authors:  J V Neel
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205

4.  Heterogeneity of osteogenesis imperfecta. Biochemical and morphological findings in a case of type III according to Sillence.

Authors:  H Stöss; B F Pontz; H J Pesch; R Ott
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

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

Authors:  G S Barsh; C L Roush; J Bonadio; P H Byers; R E Gelinas
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

6.  Amniotic bands in connective tissue disorders.

Authors:  I D Young; R H Lindenbaum; E M Thompson; M E Pembrey
Journal:  Arch Dis Child       Date:  1985-11       Impact factor: 3.791

7.  Molecular abnormalities of collagen in human disease.

Authors:  F M Pope; A C Nicholls
Journal:  Arch Dis Child       Date:  1987-05       Impact factor: 3.791

8.  Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.

Authors:  G Wallis; P Beighton; C Boyd; C G Mathew
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

9.  Collagen genes and proteins in osteogenesis imperfecta.

Authors:  F M Pope; A C Nicholls; J McPheat; P Talmud; R Owen
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

10.  The birth prevalence rates for the skeletal dysplasias.

Authors:  I M Orioli; E E Castilla; J G Barbosa-Neto
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318
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