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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.

Neural Tube Defects/ genetics

Your search returns 4 documents

• 1.   Adverse reproductive outcomes among pregnancies of aunts and (spouses of) uncles in Irish families with neural tube defects

  The aim of this study was to examine matrilineal risk in families with neural tube defects by comparing adverse pregnancy outcomes among maternal and paternal first cousin pregnancies.

  

  Abstract:

  Adverse pregnancy outcomes may be more frequent among sibs of individuals with neural tube defects (NTDs), and transmission of risk in families with an NTD may be more frequent among maternal relatives. In a study designed to evaluate matrilineal risk for NTDs, we compared adverse pregnancy outcomes among maternal and paternal first cousin pregnancies. Pregnancy histories were obtained more...

  International Classification:

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

  Categories:

  neural tube defects

  Geography:

  Republic of Ireland

  Am J Med Genet A, Vol: 140 Page: 52-61 January 2006
  J. Byrne; S. Carolan

  [Preview] [Read]

• 2.   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]

• 3.   Non-multifactorial neural tube defects

  This article discusses known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural tube defects and causative genes, if known

  

  Abstract:

  Although most neural tube defects (anencephaly, spina bifida) occur as isolated malformations, a substantial proportion are attributable to chromosome anomalies, known teratogens, or component manifestations of multiple anomaly syndromes. This review describes known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural more...

  Geography:

  Republic of Ireland

  Am J Med Genet C Semin Med Genet, Vol: 135C Page: 69-76 May 2005
  S. A. Lynch

  [Preview] [Read]

• 4.   Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects

  The aim of this study was to examine polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects

  

  Abstract:

  Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B(12) (B(12)) dependent enzymes in humans. A lower level of B(12) has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B(12) dependent enzymes. To investigate the role of methylmalonyl-CoA mutase variants more...

  International Classification:

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

  Categories:

  vitamin B12 dependent methylmalonyl-coA mutase; -neural tube defects

  Geography:

  Republic of Ireland

  Mol Genet Metab, Vol: 80 Page: 463-8 December 2003
  A. Parle-McDermott; E. J. McManus; J. L. Mills; V. B. O'Leary; F. Pangilinan; C. Cox; A. Weiler; A. M. Molloy; M. Conley; D. Watson; J. M. Scott; L. C. Brody; P. N. Kirke

  [Preview] [Read]