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Irish Child Health Database - Peer Reviewed Papers

Database Search

Gene Deletion

Your search returns 4 documents

• 1.   Dopaminergic system genes in ADHD: toward a biological hypothesis

  The aim of this study was to examine issues about dopaminergic system genes in attention-deficit hyperactivity disorder and generate biological hypothesis

  

  Abstract:

  Converging evidence has implicated abnormalities of dopamine neurotransmission to the pathology of attention deficit hyperactivity disorder (ADHD). Several genetic association studies have been published, but so far, no DNA variants have been unequivocally demonstrated as contributing to ADHD susceptibility. Four dopamine related gene loci have been implicated, however: DAT 1, DRD 4, 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

  Neuropsychopharmacology, Vol: 27 Page: 607-19 October 2002
  A. Kirley; Z. Hawi; G. Daly; M. McCarron; C. Mullins; N. Millar; I. Waldman; M. Fitzgerald; M. Gill

  [Preview] [Read]

• 2.   Importance of mitochondrial and nuclear sperm DNA in sperm quality assessment and assisted reproduction outcome

  This article discusses how the integrity of both nuclear and mitochondrial affect the choice of sperm for assisted conception.

  

  Abstract:

  Intracytoplasmic sperm injection (ICSI) has made irrelevant the conventional criteria of concentration, motility and morphology for assessment of sperm quality and so we urgently need new assays by which to gauge sperm 'health'. ICSI may be facilitating the transfer of genetic disorders to future generations by bypassing all the natural hurdles for sperm selection without imposing more more...

  Geography:

  Northern Ireland

  Hum Fertil (Camb), Vol: 5 Page: 102-9 August 2002
  S. E. Lewis

  [Preview] [Read]

• 3.   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

  [Preview] [Read]

• 4.   The behavioural phenotype in velo-cardio-facial syndrome

  This article discusses the behavioural phenotype in velo-cardio-facial syndrome

  

  Geography:

  Republic of Ireland

  J Intellect Disabil Res, Vol: 48 Page: 524-30 September 2004
  K. C. Murphy

  [Preview] [Read]