Literature DB >> 11795769

Coexistence of supravalvular aortic stenosis and osteogenesis imperfecta.

P G McGlinchey1, M S Spence, P P McKeown, H C Mulholland, M M Khan.   

Abstract

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Year:  2001        PMID： 11795769      PMCID： PMC2449228     

Source DB:  PubMed          Journal:  Ulster Med J        ISSN： 0041-6193


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  6 in total

1.  FAMILIAL SUPRAVALVULAR AORTIC STENOSIS.

Authors:  R EISENBERG; D YOUNG; B JACOBSON; A BOITO
Journal:  Am J Dis Child       Date:  1964-10

2.  Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q.

Authors:  A Kumar; T M Olson; S N Thibodeau; V V Michels; D J Schaid; M R Wallace
Journal:  Am J Cardiol       Date:  1994-12-15       Impact factor: 2.778

3.  Genetic heterogeneity in osteogenesis imperfecta.

Authors:  D O Sillence; A Senn; D M Danks
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

4.  Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.

Authors:  L R Osborne; D Martindale; S W Scherer; X M Shi; J Huizenga; H H Heng; T Costa; B Pober; L Lew; J Brinkman; J Rommens; B Koop; L C Tsui
Journal:  Genomics       Date:  1996-09-01       Impact factor: 5.736

5.  Osteogenesis imperfecta is linked to both type I collagen structural genes.

Authors:  B Sykes; D Ogilvie; P Wordsworth; N Jones
Journal:  Lancet       Date:  1986-07-12       Impact factor: 79.321

6.  Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

Authors:  B Sykes; D Ogilvie; P Wordsworth; G Wallis; C Mathew; P Beighton; A Nicholls; F M Pope; E Thompson; P Tsipouras
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025
  6 in total

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