Literature DB >> 86915

Biochemical heterogeneity of osteogenesis imperfecta: New variant.

A C Nicholls, F M Pope, H Schloon.   

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Year:  1979        PMID： 86915     DOI： 10.1016/s0140-6736(79)91872-5

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


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  21 in total

1.  Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

Authors:  F Malfait; S Symoens; P Coucke; L Nunes; S De Almeida; A De Paepe
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

Review 2.  Collagen genes and inherited connective tissue disease.

Authors:  K S Cheah
Journal:  Biochem J       Date:  1985-07-15       Impact factor: 3.857

Review 3.  Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.

Authors:  D J Prockop
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

Review 4.  Molecular abnormalities of collagen: a review.

Authors:  F M Pope; A C Nicholls; J Dorling; J Webb
Journal:  J R Soc Med       Date:  1983-12       Impact factor: 5.344

5.  Osteogenesis imperfecta: a heterogeneous morphologic phenotype in cultured dermal fibroblasts.

Authors:  A P Boright; G A Lancaster; C R Scriver
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

Authors:  Ulrike Schwarze; Ryu-Ichiro Hata; Victor A McKusick; Hiroshi Shinkai; H Eugene Hoyme; Reed E Pyeritz; Peter H Byers
Journal:  Am J Hum Genet       Date:  2004-04-09       Impact factor: 11.025

7.  Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.

Authors:  L A Dickson; T Pihlajaniemi; S Deak; F M Pope; A Nicholls; D J Prockop; J C Myers
Journal:  Proc Natl Acad Sci U S A       Date:  1984-07       Impact factor: 11.205

8.  Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.

Authors:  P H Byers; J R Shapiro; D W Rowe; K E David; K A Holbrook
Journal:  J Clin Invest       Date:  1983-03       Impact factor: 14.808

9.  Osteogenesis imperfecta (lethal) bones contain types III and V collagens.

Authors:  F M Pope; A C Nicholls; C Eggleton; P Narcissi; E N Hey; J M Parkin
Journal:  J Clin Pathol       Date:  1980-06       Impact factor: 3.411

10.  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
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