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Irish Child Health Database - Peer Reviewed Papers

Database Search

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Your search returns 3 documents

• 1.   Intelligence in DSM-IV combined type attention-deficit/hyperactivity disorder is not predicted by either dopamine receptor/transporter genes or other previously identified risk alleles for attention-deficit/hyperactivity disorder

  The aim of this study was to examine intelligence in DSM-IV combined type attention-deficit/hyperactivity disorder is predicted by either dopamine receptor/transporter genes or other previously identified risk alleles

  

  Abstract:

  A major goal of genetic studies of attention deficit hyperactivity disorder (ADHD) is to identify individual characteristics that might help segregate the disorder's inherent heterogeneity. [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] recently reported a potentially important association between two dopamine-related risk polymorphisms (DRD4 variable number tandem repeat (VNTR) 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:

  International

  American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol: 147 Page: 316-319 2008
  E. J. S. Sonuga-Barke; K. J. Brookes; J. Buitelaar; R. Anney; P. Bitsakou; D. Baeyens; C. Buschgens; W. Chen; H. Christiansen; J. Eisenberg; J. Kuntsi; I. Manor; A. Melia; A. Mulligan; N. Rommelse; U. C. Muller; H. Uebel; T. Banaschewski; R. Ebstein; B. Franke; M. Gill; A. Miranda; R. D. Oades; H. Roeyers; A. Rothenberger; J. Sergeant; H. C. Steinhausen; M. Thompson; E. Taylor; P. Asherson; S. V. Faraone

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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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• 3.   The IL12B 3' untranslated region DNA polymorphism is not associated with early-onset type 1 diabetes

  The aim of this study was to investigate case-control and family-based association studies, using the transmission disequilibrium test, to investigate if allele 1 is associated with early-onset type 1 diabetes

  

  Abstract:

  A recent study employing Australian and UK type 1 diabetes families has demonstrated significant transmission bias to affected offspring of a polymorphism (1188A allele; termed allele 1) in the 3' untranslated region (3'UTR) of the interleukin 12B (IL12B) gene which encodes the IL-12p40 subunit of the pro-inflammatory cytokine IL-12. However, results from replication studies in other more...

  International Classification:

  Endocrine, nutritional and metabolic diseases - Diabetes mellitus - type 1 diabetes mellitus

  Categories:

  allele 1; - type 1 diabetes

  Geography:

  Northern Ireland

  Genes Immun, Vol: 3 Page: 433-5 November 2002
  R. M. McCormack; A. P. Maxwell; D. J. Carson; C. C. Patterson; D. Middleton; D. A. Savage

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