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Irish Child Health Database - Peer Reviewed Papers

Database Search

How to use this database.

• Method 1- uses a free natural language approach.

  After choosing the object of the search – by ticking title, abstract, aims and objective, or author - enter a term, word or name in the ‘Search’ box to return references answering your research question.

• Method 2 - utilises key words.

  Those key words assigned from thesauruses of controlled vocabulary by the trained coders of international bibliographic databases.
  The controlled vocabularies key word are listed alphanumerically under 'Bibliographic database keywords' .
  Use the drop down menu to identity which 'key words' you are interested in to return references to answer your research question.

• Method 3 - is based on the indexing system

  developed by the researchers who compiled this database.
  It adopts a thematic approach to mapping Irish child health research. The themed areas represent outcomes mapped to the International Classification of Disease version 10 (ICD-10) or one of 23 other health-related themed outcomes. Themes are defined in Tables 5 to 7 (of the study report).
  Use the alphabetic drop down menu under ‘ICD-10 or themed health-related outcomes’ to identity which themed areas you are interested in to select references to answer your research question.

• Method 4 – allows papers to be searched by Study type.

  Indexing by study type offers a valuable insight into understanding the population impact of the topic of interest. More than 20 study types were identified across the 2,152 study papers. These are defined in Table 3 (of the study report). Within 'Study type' papers are further stratification by geographical region (Table 49), topic area of interest and study aims and objectives.
  Click on 'Study type' to select the type of study of interest, progressively select sub-categories by topic area or other sub-classification of interest to answer your research question.

The complete background, methods and findings from this mapping exercise are detailed in the study report.

Chromosome Mapping

Your search returns 9 documents

• 1.   A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8

  The aim of this study was to examine a novel primary immunodeficiency consisting of specific natural-killer cell deficiency and susceptibility to viral diseases

  

  Abstract:

  We describe four children with a novel primary immunodeficiency consisting of specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. One child developed an Epstein-Barr virus-driven lymphoproliferative disorder; two others developed severe respiratory illnesses of probable viral etiology. The four patients are related and belong to a large inbred kindred of more...

  International Classification:

  Other - natural-killer (NK) cell deficiency

  Categories:

  natural-killer (NK) cell deficiency

  Geography:

  Republic of Ireland

  Am J Hum Genet, Vol: 78 Page: 721-7 April 2006
  C. Eidenschenk; J. Dunne; E. Jouanguy; C. Fourlinnie; L. Gineau; D. Bacq; C. McMahon; O. Smith; J. L. Casanova; L. Abel; C. Feighery

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• 2.   Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome

  This article discusses candidate genes and the behavioural phenotype in 22q11.2 deletion syndrome and the association with schizophrenia

  

  Abstract:

  There is an overwhelming evidence that children and adults with 22q11.2 deletion syndrome (22q11.2DS) have a characteristic behavioral phenotype. In particular, there is a growing body of evidence that indicates an unequivocal association between 22q11.2DS and schizophrenia, especially in adulthood. Deletion of 22q11.2 is the third highest risk for the development of schizophrenia, with more...

  Geography:

  Republic of Ireland

  Dev Disabil Res Rev, Vol: 14 Page: 26-34 2008
  S. E. Prasad; S. Howley; K. C. Murphy

  [Preview] [Read]

• 3.   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

  

  Abstract:

  OBJECTIVE: Autism is a neurodevelopmental disorder with childhood onset and a known major genetic component. A recent study identified a highly significant association between autism and a two-single-nucleotide-polymorphism haplotype in the SLC25A12 gene, with a homozygote genotype relative risk between 2.4 and 4.8. The authors' goal was to investigate this association with autism in more...

  International Classification:

  Mental and behavioural disorders - Disorders of psychological development - autism

  Categories:

  autism

  Geography:

  Republic of Ireland

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

  [Preview] [Read]

• 4.   Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population

  The aim of this study was to examine a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population

  

  Abstract:

  Genetic and environmental factors contribute to the etiology of neural tube defects (NTDs). While periconceptional folic acid supplementation is known to significantly reduce the risk of NTDs, folate metabolic pathway related factors do not account for all NTDs. Evidence from mouse models indicates that the tumor protein p53 (TP53) is involved in implantation and normal neural tube more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - neural tube defects - condiction

  Categories:

  genetic variation in TP53; -neural tube defect

  Geography:

  Republic of Ireland

  Am J Med Genet A, Vol: 146A Page: 2617-25 October 2008
  F. Pangilinan; K. Geiler; J. Dolle; J. Troendle; D. A. Swanson; A. M. Molloy; M. Sutton; M. Conley; P. N. Kirke; J. M. Scott; J. L. Mills; L. C. Brody

  [Preview] [Read]

• 5.   Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14

  The aim of this study was to describe a genome-wide search on individuals with early-onset homogeneous bipolar affective disorder type I proband

  

  Abstract:

  Preliminary studies suggested that age at onset (AAO) may help to define homogeneous bipolar affective disorder (BPAD) subtypes. This candidate symptom approach might be useful to identify vulnerability genes. Thus, the probability of detecting major disease-causing genes might be increased by focusing on families with early-onset BPAD type I probands. This study was conducted as part more...

  International Classification:

  Mental and behavioural disorders - Mood [affective] disorders - bipolar affective disorder

  Categories:

  homogeneous bipolar affective disorder

  Geography:

  International

  Mol Psychiatry, Vol: 11 Page: 685-94 July 2006
  B. Etain; F. Mathieu; M. Rietschel; W. Maier; M. Albus; P. McKeon; S. Roche; C. Kealey; D. Blackwood; W. Muir; F. Bellivier; C. Henry; C. Dina; S. Gallina; H. Gurling; A. Malafosse; M. Preisig; F. Ferrero; S. Cichon; J. Schumacher; S. Ohlraun; M. Borrmann-Hassenbach; P. Propping; R. Abou Jamra; T. G. Schulze; A. Marusic; Z. M. Dernovsek; B. Giros; T. Bourgeron; A. Lemainque; D. Bacq; C. Betard; C. Charon; M. M. Nothen; M. Lathrop; M. Leboyer

  [Preview] [Read]

• 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

  

  Abstract:

  Arthrogryposis is a congenital malformation affecting the limbs of newborn animals and infants. Previous work has demonstrated that inherited ovine arthrogryposis (IOA) has an autosomal recessive mode of inheritance. Two affected homozygous recessive (art/art) Suffolk rams were used as founders for a backcross pedigree of half-sib families segregating the IOA trait. A genome scan was more...

  Categories:

  genome scan; genetic markers; arthrogryposis

  Geography:

  Republic of Ireland

  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

  [Preview] [Read]

• 7.   Population differences in the International Multi-Centre ADHD Gene Project

  The aim of this study was to examine differences in the International Multi-Centre attention-deficit hyperactivity disorder Gene Project

  

  Abstract:

  The International Multi-Centre ADHD Gene sample consists of 674 families from eight countries (Belgium, England, Germany, Holland, Ireland, Israel, Spain, and Switzerland) ascertained from clinics for combined-type attention definity hyperactivity disorder in an offspring. 863 SNPs were successfully genotyped across 47 autosomal genes implicated in psychiatric disorders yielding a more...

  International Classification:

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

  Categories:

  International Multi-Centre attention-deficit hyperactivity disorder Gene Project

  Geography:

  International

  Genet Epidemiol, Vol: 32 Page: 98-107 February 2008
  B. M. Neale; P. C. Sham; S. Purcell; T. Banaschewski; J. Buitelaar; B. Franke; E. Sonuga-Barke; R. Ebstein; J. Eisenberg; A. Mulligan; M. Gill; I. Manor; A. Miranda; F. Mulas; R. D. Oades; H. Roeyers; A. Rothenberger; J. Sergeant; H. C. Steinhausen; E. Taylor; M. Thompson; W. Chen; K. Zhou; P. Asherson; S. V. Faraone

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• 8.   Primary desmoplastic small round cell tumor of bone: report of a case with cytogenetic confirmation

  This case report discusses a case of desmoplastic small round cell tumor occurring in the right ilium of a 13-year-old boy

  

  Abstract:

  We report a case of desmoplastic small round cell tumor occurring in the right ilium of a 13-year-old boy. Morphologically, the neoplasm consisted of small round cells of primitive appearance with a diffuse growth pattern replacing marrow space and eroding bone. Immunohistochemical staining was positive for vimentin, synapsin, CD99 (MIC2 protein), and FLI-1, prompting an initial more...

  International Classification:

  ICD-O:Connective/soft tissue tumors and sarcomas (ICD-O 8800-9059)

  Categories:

  desmoplastic small round cell tumor

  Geography:

  Republic of Ireland

  Cancer Genet Cytogenet, Vol: 156 Page: 167-71 January 2005
  A. Murphy; R. L. Stallings; J. Howard; M. O'Sullivan; R. Hayes; F. Breatnach; M. B. McDermott

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• 9.   Uroplakin III is not a major candidate gene for primary vesicoureteral reflux

  The aim of this study was to examine parametric and nonparametric linkage analysis to test if uroplakin III is a candidate gene for Vesicoureteric reflux

  

  Abstract:

  Vesicoureteral reflux (VUR) is the retrograde flow of urine from the bladder into the ureter and towards the kidneys. VUR is the most common cause of end stage renal failure in both children and adults and it is a major cause of severe hypertension in children. VUR is seen in approximately 1-2% of newborn Caucasians. Substantial evidence exists that VUR is a genetic disorder. Uroplakins more...

  International Classification:

  Diseases of the genitourinary system - Renal tubulo-interstitial diseases - vesicoureteric reflux

  Categories:

  vesicoureteric reflux

  Geography:

  Republic of Ireland

  Eur J Hum Genet, Vol: 13 Page: 500-2 April 2005
  H. Kelly; S. Ennis; A. Yoneda; C. Bermingham; D. C. Shields; C. Molony; A. J. Green; P. Puri; D. E. Barton

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