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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.

Abnormalities, Multiple/ genetics

Your search returns 5 documents

• 1.   Annotation: velo-cardio-facial syndrome

  This article discusses Velo-Cardio-facial syndrome and its association with psychiatric disorders

  

  Abstract:

  BACKGROUND: Velo-cardio-facial syndrome (VCFS), the most frequent known interstitial deletion identified in man, is associated with chromosomal microdeletions in the q11 band of chromosome 22. Individuals with VCFS are reported to have a characteristic behavioural phenotype with high rates of behavioural, psychiatric, neuropsychological and linguistic disorders. METHODS: A selective more...

  Geography:

  Republic of Ireland

  J Child Psychol Psychiatry, Vol: 46 Page: 563-71 June 2005
  K. C. Murphy

  [Preview] [Read]

• 2.   Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene

  This case report discusses a 10 year old girl with "odd shaped" skull and family history of craniosynostois

  

  International Classification:

  Other - Growth and development-craniosynostois

  Categories:

  craniosynostois

  Geography:

  Northern Ireland

  Ulster Med J, Vol: 70 Page: 47-50 May 2001
  J. Hughes; N. C. Nevin; P. J. Morrison

  [Preview] [Read]

• 3.   Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?

  This article discusses kidney failure as a constituent element of the natural history of Townes-Brocks syndrome

  

  Abstract:

  Though uncommon, kidney malformations are described in several cases of Townes-Brocks syndrome. By contrast, kidney failure has been reported as the presenting feature of Townes-Brocks syndrome on only one occasion. While the SALL1 gene, mutations of which result in the Townes-Brocks phenotype, is expressed in the developing kidney, the absence of other corroborative reports of kidney more...

  Geography:

  Republic of Ireland

  Am J Med Genet A, Vol: 143A Page: 2588-91 November 2007
  W. Reardon; L. F. Casserly; R. Birkenhager; J. Kohlhase

  [Preview] [Read]

• 4.   Malpuech syndrome: facial features in the absence of clefting

  This case report discusses a girl with Malpuech Syndrome

  

  Abstract:

  We present a girl with Malpuech syndrome. In addition to the typical features of intrauterine growth retardation, facial dysmorphism, caudal appendage and patent ductus arteriosis, she has an unusual eyebrow pattern with a lateral flare. more...

  International Classification:

  Syndrome

  Categories:

  Malpuech syndrome

  Geography:

  Republic of Ireland

  Clin Dysmorphol, Vol: 15 Page: 243-4 October 2006
  S. M. Finn; S. A. Lynch

  [Preview] [Read]

• 5.   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]