Literature DB >> 6101893

Recurrence risk in osteogenesis imperfecta congenita.

I D Young, P S Harper.   

Abstract

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Year:  1980        PMID： 6101893     DOI： 10.1016/s0140-6736(80)90988-5

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  12 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

Review 2.  Genetic disorders of collagen.

Authors:  P Tsipouras; F Ramirez
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

3.  Genetic analysis of malformations causing perinatal mortality.

Authors:  I D Young; A B Rickett; M Clarke
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

4.  The quality of genetic counselling in osteogenesis imperfecta.

Authors:  C R Paterson; E Mowat
Journal:  Postgrad Med J       Date:  1981-07       Impact factor: 2.401

5.  Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

Authors:  I D Young; E M Thompson; C M Hall; M E Pembrey
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

6.  Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

Authors:  E M Thompson; I D Young; C M Hall; M E Pembrey
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

7.  Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.

Authors:  S D Chipman; H O Sweet; D J McBride; M T Davisson; S C Marks; A R Shuldiner; R J Wenstrup; D W Rowe; J R Shapiro
Journal:  Proc Natl Acad Sci U S A       Date:  1993-03-01       Impact factor: 11.205

8.  Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.

Authors:  F M Pope; K S Cheah; A C Nicholls; A B Price; F G Grosveld
Journal:  Br Med J (Clin Res Ed)       Date:  1984-02-11

9.  Lethal perinatal type II osteogenesis imperfecta in a family with a dominantly inherited type I.

Authors:  Y Gillerot; J M Druart; L Koulischer
Journal:  Eur J Pediatr       Date:  1983-12       Impact factor: 3.183

10.  Congenital osteogenesis imperfecta in three sibs.

Authors:  S Braga; E Passarge
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
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