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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » B » Base Sequence

Base Sequence

Your search returns 12 documents

  • 1.   A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

    These case reports discuss a novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

    J Med Genet, Vol: 38 Page: 820-3 December 2001
    W. Reardon; X. P. Zhou; C. Eng

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  • 2.   Antenatal dexamethasone enhances endothelin-1 synthesis and gene expression in the heart in congenital diaphragmatic hernia in rats

    The aim of this study was to determine cardiac gene expression of ET-1 and of its receptor ET(A) and the cardiac ET-1 content in the heart of nitrofen-induced congenital diaphragmatic hernia in rats and evaluate antenatal Dexamethason treatment effects

    J Pediatr Surg, Vol: 37 Page: 1563-7 November 2002
    N. Guarino; P. Puri

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  • 3.   Clinical and molecular findings in IPEX syndrome

    This case report discusses clinical and molecular findings in IPEX syndrome

    Arch Dis Child, Vol: 91 Page: 63-4 January 2006
    A. K. Myers; L. Perroni; C. Costigan; W. Reardon

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  • 4.   Genetic variation in clinical varicella-zoster virus isolates collected in Ireland between 2002 and 2003

    The aim of this study was to examine genetic variation in 16 varicella-zoster virus isolates selected at random and circulating in the Irish population

    J Med Virol, Vol: 73 Page: 131-6 May 2004
    M. J. Carr; G. P. McCormack; B. Crowley

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  • 5.   Granulocyte colony-stimulating factor and granulocyte-macrophage colony-stimulating factor have differential effects on neonatal and adult neutrophil survival and function

    The aim of this study was to investigate evaluate neonatal and adult neutrophils for their ability to combat bacterial infection by examining their functional activity (CD11b and reactive oxygen intermediates) and their persistence at inflammatory sites

    Pediatr Res, Vol: 57 Page: 806-12 June 2005
    E. J. Molloy; A. J. O'Neill; J. J. Grantham; M. Sheridan-Pereira; J. M. Fitzpatrick; D. W. Webb; R. W. Watson

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  • 6.   Linkage mapping of the locus for inherited ovine arthrogryposis (IOA) to sheep chromosome 5

    The aim of this study was to undertake a genome scan using 187 microsatellite genetic markers and all backcross animals were phenotyped at birth for the presence and severity of arthrogryposis

    Mamm Genome, Vol: 18 Page: 43-52 January 2007
    A. M. Murphy; D. E. MacHugh; S. D. Park; E. Scraggs; C. S. Haley; D. J. Lynn; M. P. Boland; M. L. Doherty

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  • 7.   Misidentification of a genomovar of Burkholderia cepacia by recA restriction fragment length polymorphism

    This case report discusses a 8 year old girl with cystic fibrosis presented with a pulmonary exacerbation from which Burkholderia cepacia was cultured

    J Clin Pathol, Vol: 55 Page: 309-11 April 2002
    J. E. Moore; B. C. Millar; J. Xu; M. Crowe; A. O. Redmond; J. S. Elborn

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  • 8.   Molecular genotyping of Irish rotavirus strains

    This article discusses molecular genotyping of Irish rotavirus strains

    Methods Mol Biol, Vol: 268 Page: 89-102 2004
    F. O'Halloran; S. Fanning

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  • 9.   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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  • 10.   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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  • 11.   Screening for new MTHFR polymorphisms and NTD risk

    This aim of this study was to screen for a new MTHFR polymorphisms and neural tube defect risk

    Am J Med Genet A, Vol: 138A Page: 99-106 October 2005
    V. B. O'Leary; J. L. Mills; A. Parle-McDermott; F. Pangilinan; A. M. Molloy; C. Cox; A. Weiler; M. Conley; P. N. Kirke; J. M. Scott; L. C. Brody

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  • 12.   Tryptophan hydroxylase 2 (TPH2) gene variants associated with ADHD

    The aim of this study was to describe the association of eight single nucleotide polymorphisms in the TPH2 gene with attention-deficit hyperactivity disorder

    Mol Psychiatry, Vol: 10 Page: 944-9 October 2005
    K. Sheehan; N. Lowe; A. Kirley; C. Mullins; M. Fitzgerald; M. Gill; Z. Hawi

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