Literature DB >> 7700719

Clinical--molecular correlations in the skeletal dysplasias.

D L Rimoin1, D H Cohn, D Eyre.   

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Year:  1994        PMID： 7700719     DOI： 10.1007/bf02011909

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


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  13 in total

Review 1.  Brittle bones--fragile molecules: disorders of collagen gene structure and expression.

Authors:  P H Byers
Journal:  Trends Genet       Date:  1990-09       Impact factor: 11.639

Review 2.  Osteogenesis imperfecta: translation of mutation to phenotype.

Authors:  P H Byers; G A Wallis; M C Willing
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

3.  Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

Authors:  G E Tiller; D L Rimoin; L W Murray; D H Cohn
Journal:  Proc Natl Acad Sci U S A       Date:  1990-05       Impact factor: 11.205

4.  Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Authors:  N N Ahmad; L Ala-Kokko; R G Knowlton; S A Jimenez; E J Weaver; J I Maguire; W Tasman; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-01       Impact factor: 11.205

5.  Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.

Authors:  B Lee; H Vissing; F Ramirez; D Rogers; D Rimoin
Journal:  Science       Date:  1989-05-26       Impact factor: 47.728

6.  A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.

Authors:  M Vikkula; P Ritvaniemi; A F Vuorio; I Kaitila; L Ala-Kokko; L Peltonen
Journal:  Genomics       Date:  1993-04       Impact factor: 5.736

Review 7.  A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Authors:  N N Ahmad; D M McDonald-McGinn; E H Zackai; R G Knowlton; D LaRossa; J DiMascio; D J Prockop
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

8.  An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.

Authors:  R Bogaert; G E Tiller; M A Weis; H E Gruber; D L Rimoin; D H Cohn; D R Eyre
Journal:  J Biol Chem       Date:  1992-11-05       Impact factor: 5.157

9.  Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.

Authors:  A Winterpacht; M Hilbert; U Schwarze; S Mundlos; J Spranger; B U Zabel
Journal:  Nat Genet       Date:  1993-04       Impact factor: 38.330

10.  Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Authors:  L Ala-Kokko; C T Baldwin; R W Moskowitz; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1990-09       Impact factor: 11.205
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  2 in total

Review 1.  Progressive pseudorheumatoid dysplasia: report of a family and review.

Authors:  H E el-Shanti; H Z Omari; H I Qubain
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

Review 2.  Extending the nosology of the chondrodysplasias to the cellular and molecular levels.

Authors:  W A Horton
Journal:  Pediatr Radiol       Date:  1994
  2 in total

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