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Irish Child Health Database - Peer Reviewed Papers

Database Search

genotype phenotype correlation

Your search returns 2 documents

• 1.   Association of the paternally transmitted copy of common Valine allele of the Val66Met polymorphism of the brain-derived neurotrophic factor (BDNF) gene with susceptibility to ADHD

  The aim of this study was to describe paternally transmitted copy of common Valine allele of the Val66Met polymorphism of the brain derived neurotrophic factor gene with susceptibility to attention-deficit hyperactivity disorder

  

  Abstract:

  Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable, neurodevelopmental disorder with onset in early childhood. Genes involved in neuronal development and growth are, thus, important etiological candidates and brain-derived neurotrophic factor (BDNF), has been hypothesized to play a role in the pathogenesis of ADHD. BDNF is a member of the neurotrophin family more...

  International Classification:

  Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder

  Categories:

  attention-deficit hyperactivity disorder

  Geography:

  Republic of Ireland and the United Kingdom

  Molecular Psychiatry, Vol: 10 Page: 939-943 2005
  L. Kent; E. Green; Z. Hawi; A. Kirley; F. Dudbridge; N. Lowe; R. Raybould; K. Langley; N. Bray; M. Fitzgerald; M. J. Owen; M. C. O'Donovan; M. Gill; A. Thapar; N. Craddock

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• 2.   REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

  The aim of this study was to examine REEP1 mutation spectrum and genotype/phenotype correlation for hereditary spastic paraplegia type 31

  

  Abstract:

  Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients more...

  International Classification:

  Diseases of the nervous system - Cerebral palsy and other paralytic syndromes - spastic paraplegia

  Categories:

  hereditary spastic paraplegia type 31

  Geography:

  International

  Brain, Vol: 131 Page: 1078-1086 2008
  C. Beetz; R. Schule; T. Deconinck; K. N. Tran-Viet; H. Zhu; B. P. H. Kremer; S. G. M. Frints; W. A. G. Van Zelst-Stams; P. Byrne; S. Otto; A. O. H. Nygren; J. Baets; K. Smets; B. Ceulemans; B. Dan; N. Nagan; J. Kassubek; S. Klimpe; T. Klopstock; H. Stolze; H. J. M. Smeets; C. T. R. M. Schrander-Stumpel; M. Hutchinson; B. P. Van De Warrenburg; C. Braastad; T. Deufel; M. Pericak-Vance; L. Schols; P. De Jonghe; S. Zuchner

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