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Irish Child Health Database - Peer Reviewed Papers

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Your search returns 25 documents

  • 1.   Association analysis of the monoamine oxidase A and B genes with attention deficit hyperactivity disorder (ADHD) in an Irish sample: preferential transmission of the MAO-A 941G allele to affected children

    The aim of this study was to describe four polymorphisms and two markers in the MAO-A gene for association with attention-deficit hyperactivity disorder

    Am J Med Genet B Neuropsychiatr Genet, Vol: 134B Page: 110-4 April 2005
    K. Domschke; K. Sheehan; N. Lowe; A. Kirley; C. Mullins; R. O'Sullivan; C. Freitag; T. Becker; J. Conroy; M. Fitzgerald; M. Gill; Z. Hawi

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  • 2.   Association of the interleukin 1 receptor antagonist gene with ulcerative colitis in Northern European Caucasians

    The aim of this study was to examine the association between the allele 2 of the interleukin 1 receptor antagonist gene

    Gut, Vol: 48 Page: 461-7 April 2001
    M. J. Carter; F. S. di Giovine; S. Jones; J. Mee; N. J. Camp; A. J. Lobo; G. W. Duff

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  • 3.   Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population

    The aim of this study was to examine the prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, the AIRE mutations involved and clinical features of this population

    J Pediatr Endocrinol Metab, Vol: 19 Page: 1343-52 November 2006
    M. Dominguez; E. Crushell; T. Ilmarinen; E. McGovern; S. Collins; B. Chang; P. Fleming; A. D. Irvine; D. Brosnahan; I. Ulmanen; N. Murphy; C. Costigan

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  • 4.   Comparison of graft-versus-host-disease and survival after HLA-identical sibling bone marrow transplantation in ethnic populations

    The aim of the study was to compare graft-versus-host-disease and survival after HLA-identical sibling bone marrow transplantation in ethnic populations

    Blood, Vol: 105 Page: 1408-16 February 2005
    H. Oh; Jr. F. R. Loberiza; M. J. Zhang; O. Ringden; H. Akiyama; T. Asai; S. Miyawaki; S. Okamoto; M. M. Horowitz; J. H. Antin; A. Bashey; J. M. Bird; M. H. Carabasi; J. W. Fay; R. P. Gale; R. H. Giller; J. M. Goldman; G. A. Hale; R. E. Harris; J. Henslee-Downey; H. J. Kolb; M. R. Litzow; P. L. McCarthy; S. M. Neudorf; D. S. Serna; G. Socie; P. Tiberghien; A. J. Barrett

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  • 5.   Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

    The aim of this study was to examine the spectrum of the mutations identified in the gene responsible for cystic fibrosis in three cohorts of patients of Celtic origin from Brittany and Ireland.

    Hum Mutat, Vol: 22 Page: 105 July 2003
    V. Scotet; D. E. Barton; J. B. Watson; M. P. Audrezet; T. McDevitt; S. McQuaid; C. Shortt; M. De Braekeleer; C. Ferec; C. Le Marechal

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  • 6.   Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31

    The aim of this study was to describe the association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31

    Am J Psychiatry, Vol: 162 Page: 2182-4 November 2005
    R. Segurado; J. Conroy; E. Meally; M. Fitzgerald; M. Gill; L. Gallagher

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  • 7.   Dopa decarboxylase gene polymorphisms and attention deficit hyperactivity disorder (ADHD): no evidence for association in the Irish population

    The aim of this study was to describe first neuronally expressed exon 1 at the dopa decarboxylase gene and two microsatellite markers flanking the gene were investigated for possible association with attention-deficit hyperactivity disorder

    Mol Psychiatry, Vol: 6 Page: 420-4 July 2001
    Z. Hawi; D. Foley; A. Kirley; M. McCarron; M. Fitzgerald; M. Gill

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  • 8.   DRD4 gene variants and sustained attention in attention deficit hyperactivity disorder (ADHD): effects of associated alleles at the VNTR and -521 SNP

    The aim of this study was to describe the relationship between the VNTR, -521, and -616 SNPs and sustained attention performance in attention-deficit hyperactivity disorder probands, relative to a non-genotyped control group

    Am J Med Genet B Neuropsychiatr Genet, Vol: 136B Page: 81-6 July 2005
    M. A. Bellgrove; Z. Hawi; N. Lowe; A. Kirley; I. H. Robertson; M. Gill

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  • 9.   Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population

    The aim of this study was to investigate whether six common polymorphisms in the TCII gene influence neural tube defect risk

    Birth Defects Res A Clin Mol Teratol, Vol: 73 Page: 239-44 April 2005
    D. A. Swanson; F. Pangilinan; J. L. Mills; P. N. Kirke; M. Conley; A. Weiler; T. Frey; A. Parle-McDermott; V. B. O'Leary; R. R. Seltzer; K. A. Moynihan; A. M. Molloy; H. Burke; J. M. Scott; L. C. Brody

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  • 10.   Familial Prader-Willi syndrome: case report and a literature review

    This case report discusses a pair of siblings affected by Prader-Wili Syndrome

    Clin Genet, Vol: 58 Page: 216-23 September 2000
    M. E. McEntagart; T. Webb; C. Hardy; M. D. King

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  • 11.   Genetic polymorphisms of angiotensin system genes in congenital diaphragmatic hernia associated with persistent pulmonary hypertension

    The aim of this study was to investigate the ACE I/D genotype, the M235 T polymorphism of the angiotensinogen gene and the A1166 C polymorphism of AT1R in the lungs of congenital diaphragmatic hernia complicated by persistent pulmonary hypertension

    J Pediatr Surg, Vol: 39 Page: 302-6; discussion 302-6 March 2004
    V. Solari; P. Puri

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  • 12.   HFE alleles in an Irish cystic fibrosis population

    The aim of this study was to describe HFE alleles in an Irish cystic fibrosis population

    Genet Test, Vol: 7 Page: 155-8 2003 Summer
    J. Devaney; M. Maher; T. Smith; J. A. Houghton; M. Glennon

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  • 13.   Linkage disequilibrium mapping at DAT1, DRD5 and DBH narrows the search for ADHD susceptibility alleles at these loci

    The aim of this study was to describe linkage disequilibrium mapping at DAT1, DRD5 and DBH to narrow the search for attention-deficit hyperactivity disorder susceptibility alleles at these loci

    Mol Psychiatry, Vol: 8 Page: 299-308 March 2003
    Z. Hawi; N. Lowe; A. Kirley; F. Gruenhage; M. Nothen; T. Greenwood; J. Kelsoe; M. Fitzgerald; M. Gill

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  • 14.   MTRR and MTHFR polymorphism: link to Down syndrome?

    The aim of this study was to examine the prevalence of variant genotypes in mothers who had given birth to a child with Down syndrome and in control mothers, and investigated the biochemical factors influenced by the presence of MTRR A66G and MTHFR C677T

    Am J Med Genet, Vol: 107 Page: 151-5 January 2002
    V. B. O'Leary; A. Parle-McDermott; A. M. Molloy; P. N. Kirke; Z. Johnson; M. Conley; J. M. Scott; J. L. Mills

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  • 15.   Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland

    The aim of this study was to detail the cystic fibrosis transmembrane conductance regulator variants in 31 unrelated cystic fibrosis patients

    J Med Genet, Vol: 38 Page: 136-9 February 2001
    D. Hughes; T. Dork; M. Stuhrmann; C. Graham

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  • 16.   Nicotinic acetylcholine receptor alpha4 subunit gene polymorphism and attention deficit hyperactivity disorder

    The aim of this study was to examine examined the alpha 4 receptor, one of the sites of action of ABT-418 to examine the effect of nicotine in families with ADHD

    Psychiatr Genet, Vol: 11 Page: 37-40 March 2001
    L. Kent; F. Middle; Z. Hawi; M. Fitzgerald; M. Gill; C. Feehan; N. Craddock

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  • 17.   No association between allelic variants of HOXA1/HOXB1 and autism

    The aim of this study was to examine the association of a variant in the HOXA1 gene and autism

    Am J Med Genet B Neuropsychiatr Genet, Vol: 124B Page: 64-7 January 2004
    L. Gallagher; Z. Hawi; G. Kearney; M. Fitzgerald; M. Gill

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  • 18.   No association between catechol-O-methyltransferase (COMT) gene polymorphism and attention deficit hyperactivity disorder (ADHD) in an Irish sample

    The aim of this study was to examine the association between catechol-O-methyltransferase gene polymorphism and attention deficit hyperactivity disorder in an Irish sample

    Am J Med Genet, Vol: 96 Page: 282-4 June 2000
    Z. Hawi; N. Millar; G. Daly; M. Fitzgerald; M. Gill

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  • 19.   No evidence of linkage or association between the norepinephrine transporter (NET) gene polymorphisms and ADHD in the Irish population

    The aim of this study was to examine linkage or association between the norepinephrine transporter gene polymorphisms and attention-deficit hyperactivity disorder in the Irish population

    Am J Med Genet, Vol: 114 Page: 665-6 August 2002
    B. McEvoy; Z. Hawi; M. Fitzgerald; M. Gill

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  • 20.   Phenotype studies of the DRD4 gene polymorphisms in ADHD: association with oppositional defiant disorder and positive family history

    The aim of this study was to investigate association of DRD4 polymorphisms with attention deficit hyperactivity disorder subtypes for which there is evidence for increased heritability.

    Am J Med Genet B Neuropsychiatr Genet, Vol: 131B Page: 38-42 November 2004
    A. Kirley; N. Lowe; C. Mullins; M. McCarron; G. Daly; I. Waldman; M. Fitzgerald; M. Gill; Z. Hawi

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  • 21.   Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder

    The aim of this study was to examine monoaminergic candidate genes for possible genetic association with attention-deficit hyperactivity disorder

    Am J Hum Genet, Vol: 77 Page: 958-65 December 2005
    Z. Hawi; R. Segurado; J. Conroy; K. Sheehan; N. Lowe; A. Kirley; D. Shields; M. Fitzgerald; L. Gallagher; M. Gill

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  • 22.   Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection

    The aim of this study was to examine application of the novel technique of glycosylase mediated polymorphism detection to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria, R408W and I65T,

    Hum Mutat, Vol: 17 Page: 432 May 2001
    K. A. O'Donnell; O. Tighe; C. O'Neill; E. Naughten; P. D. Mayne; T. V. McCarthy; P. Vaughan; D. T. Croke

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  • 23.   Resequencing of the characterised CTGF gene to identify novel or known variants, and analysis of their association with diabetic nephropathy

    The aim of this study was to undertake genomic analysis on the connective tissue growth factor gene, which has been implicated in the pathogenesis of diabetic nephropathy

    J Hum Genet, Vol: 51 Page: 383-6 2006
    A. J. McKnight; D. A. Savage; C. C. Patterson; H. R. Brady; A. P. Maxwell

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  • 24.   The CTLA4+49A/G and CT60 polymorphisms and chronic inflammatory arthropathies in Northern Ireland

    The aim of this study was to analyzed the CTLA4 +49A/G and CT60 polymorphisms in cohorts of Northern Irish rheumatoid and juvenile idiopathic arthritis patients and healthy control subjects

    Exp Mol Pathol, Vol: 80 Page: 141-6 April 2006
    V. Suppiah; C. O'Doherty; S. Heggarty; C. C. Patterson; M. Rooney; K. Vandenbroeck

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  • 25.   The methionine allele of the COMT polymorphism impairs prefrontal cognition in children and adolescents with ADHD

    The aim of this study was to examine the association of methionine allele of the COMT polymorphism which impairs prefrontal cognition in children and adolescents with attention-deficit hyperactivity disorder

    Exp Brain Res, Vol: 163 Page: 352-60 June 2005
    M. A. Bellgrove; K. Domschke; Z. Hawi; A. Kirley; C. Mullins; I. H. Robertson; M. Gill

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