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Irish Child Health Database - Peer Reviewed Papers

Database Search

Membrane Transport Proteins

Your search returns 2 documents

• 1.   Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene

  This study investigated what proportion of autosomal recessive condition characterized by deafness and goitre were due to mutation of the Pendred syndrome gene

  

  Abstract:

  Although the textbook view of Pendred syndrome is that of an autosomal recessive condition characterized by deafness and goitre, it is increasingly clear that not all such patients present this classical clinical picture. Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene more...

  International Classification:

  Syndrome - Pendred

  Categories:

  Pendred syndrome

  Geography:

  Republic of Ireland and the United Kingdom

  Qjm, Vol: 93 Page: 99-104 February 2000
  W. Reardon; O. Mahoney CF ; R. Trembath; H. Jan; P. D. Phelps

  [Preview] [Read]

• 2.   Investigation of the C242T polymorphism of NAD(P)H oxidase p22 phox gene and ischaemic heart disease using family-based association methods

  The aim of this study was to examine the role of the c242T polymorphism in ischaemic heart disease

  

  Abstract:

  Ischaemic heart disease is a complex phenotype arising from the interaction of genetic and environmental factors. Excessive production of reactive oxygen species leading to endothelial dysfunction is believed to be important in the pathogenesis of ischaemic heart disease. The NAD(P)H oxidase system generates superoxide anions in vascular cells; however, the role of the C242T more...

  International Classification:

  Diseases of the circulatory system - ischaemic heart disease

  Categories:

  ischaemic heart disease

  Geography:

  Republic of Ireland and the United Kingdom

  Clin Sci (Lond), Vol: 105 Page: 677-82 December 2003
  M. S. Spence; P. G. McGlinchey; C. C. Patterson; A. R. Allen; G. Murphy; U. Bayraktutan; D. G. Fogarty; A. E. Evans; P. P. McKeown

  [Preview] [Read]