Literature DB >> 7278913

Basic defects in Marfan syndrome.

R E Pyeritz, V A McKusick.   

Abstract

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Year:  1981        PMID： 7278913     DOI： 10.1056/NEJM198110223051711

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

1.  A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.

Authors:  Bruno L Lima; Enrico J C Santos; Gustavo R Fernandes; Christian Merkel; Marco R B Mello; Juliana P A Gomes; Marina Soukoyan; Alexandre Kerkis; Silvia M G Massironi; José A Visintin; Lygia V Pereira
Journal:  PLoS One       Date:  2010-11-30       Impact factor: 3.240

2.  Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

Authors:  R Dalgleish; J R Hawkins; M Keston
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

3.  Homozygosity for autosomal dominant Marfan syndrome.

Authors:  J Chemke; R Nisani; A Feigl; R Garty; M Cooper; Y Bårash; D Duksin
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

Review 4.  Case report 582: Lumbosacral meningocele and aortic aneurysm in Marfan syndrome.

Authors:  J F Arroyo; J F Garcia
Journal:  Skeletal Radiol       Date:  1989       Impact factor: 2.199

5.  Viewing Victor McKusick's legacy through the lens of his bibliography.

Authors:  Sonja A Rasmussen; Ariel Pomputius; Joanna S Amberger; Ada Hamosh
Journal:  Am J Med Genet A       Date:  2021-06-23       Impact factor: 2.802
  5 in total

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