Irish Child Health Database - Peer Reviewed Papers
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Genetic Screening
Your search returns 7 documents
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The aim of this study was to accelerate the identification of susceptibility genes in diabetic nephropathy using genome-wide fluorescence-based DNA microsatellite
Abstract:
In an effort to accelerate the identification of susceptibility genes in diabetic nephropathy, the first genome-wide fluorescence-based DNA microsatellite (n=6000) association screen was performed, using pools of genomic DNA derived from Irish patients with (cases; n=200) and without (controls; n=200) type 1 diabetic nephropathy. Allele image profiles were generated for 5353 (89.2%) more...
International Classification:
Endocrine, nutritional and metabolic diseases - diabetic nephropathy
Categories:
susceptibility genes; -diabetic nephropathy
Geography:
Northern Ireland
J Am Soc Nephrol,
Vol: 17 Page: 831-6 March 2006
A. J. McKnight; A. P. Maxwell; S. Sawcer; A. Compston; E. Setakis; C. C. Patterson; H. R. Brady; D. A. Savage
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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
Abstract:
OBJECTIVE: To determine the Irish prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), the AIRE mutations involved and clinical features of this population. METHODS: All patients were identified through paediatricians and endocrinologists in Ireland. Patients were invited to attend a multidisciplinary clinic. RESULTS: Thirty-one patients (2-56 years), more...
International Classification:
Syndrome - autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Categories:
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Geography:
Republic of Ireland
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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The aim of this study was to examine issues about dopaminergic system genes in attention-deficit hyperactivity disorder and generate biological hypothesis
Abstract:
Converging evidence has implicated abnormalities of dopamine neurotransmission to the pathology of attention deficit hyperactivity disorder (ADHD). Several genetic association studies have been published, but so far, no DNA variants have been unequivocally demonstrated as contributing to ADHD susceptibility. Four dopamine related gene loci have been implicated, however: DAT 1, DRD 4, more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Neuropsychopharmacology,
Vol: 27 Page: 607-19 October 2002
A. Kirley; Z. Hawi; G. Daly; M. McCarron; C. Mullins; N. Millar; I. Waldman; M. Fitzgerald; M. Gill
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The aim of this study was to examine the prevalence of the genetic form of hereditary hemochromatosis in the Irish population
Abstract:
In populations of northern European ancestry, hereditary hemochromatosis (HH) is tightly linked to mutations within the hemochromatosis gene (HFE gene). Over 93% of Irish HH patients are homozygous for the HFE gene C282Y mutation, providing a reliable diagnostic marker of the disease in this population. However, the prevalence of the C282Y mutation and that of the second HFE gene more...
International Classification:
Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified - Abnormal findings on examination of blood, without diagnosis - hereditary hemochromatosis
Categories:
hereditary hemochromatosis
Geography:
Republic of Ireland
Genet Test,
Vol: 5 Page: 127-30 2001 Summer
V. Byrnes; E. Ryan; S. Barrett; P. Kenny; P. Mayne; J. Crowe
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The aim of this study was to examine four single nucleotide polymorphisms two of which (rs1843809, rs1386493) were reported to associate with attention-deficit hyperactivity disorder
Abstract:
Tryptophan Hydroxylase 2 (TPH2) is the rate-limiting enzyme in the biosynthesis of serotonin which is exclusively expressed in the brain. Recent molecular studies reported significant association between markers mapped to TPH2 and psychiatric conditions including ADHD. We have examined four single nucleotide polymorphisms (SNPs) two of which (rs1843809, rs1386493) were reported to more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Neurosci Lett,
Vol: 412 Page: 105-7 January 2007
K. Sheehan; Z. Hawi; M. Gill; L. Kent
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The aim of this study was to examine REEP1 mutation spectrum and genotype/phenotype correlation for hereditary spastic paraplegia type 31
Abstract:
Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients more...
International Classification:
Diseases of the nervous system - Cerebral palsy and other paralytic syndromes - spastic paraplegia
Categories:
hereditary spastic paraplegia type 31
Geography:
International
Brain,
Vol: 131 Page: 1078-1086 2008
C. Beetz; R. Schule; T. Deconinck; K. N. Tran-Viet; H. Zhu; B. P. H. Kremer; S. G. M. Frints; W. A. G. Van Zelst-Stams; P. Byrne; S. Otto; A. O. H. Nygren; J. Baets; K. Smets; B. Ceulemans; B. Dan; N. Nagan; J. Kassubek; S. Klimpe; T. Klopstock; H. Stolze; H. J. M. Smeets; C. T. R. M. Schrander-Stumpel; M. Hutchinson; B. P. Van De Warrenburg; C. Braastad; T. Deufel; M. Pericak-Vance; L. Schols; P. De Jonghe; S. Zuchner
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This aim of this study was to screen for a new MTHFR polymorphisms and neural tube defect risk
Abstract:
The enzyme, 5,10-methylenetetrahydrofolate reductase (MTHFR) plays a key role in cellular folate metabolism. The A222V (677C->T) polymorphism is a confirmed neural tube defect (NTD) risk factor within Irish and other populations. To search for other unknown single nucleotide polymorphisms (SNPs) that might play a role in the etiology of NTDs, we examined the entire MTHFR coding region more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - neural tube defects - condiction
Categories:
polymorphisms; neural tube defect
Geography:
Republic of Ireland
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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