Irish Child Health Database - Peer Reviewed Papers
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Gene Frequency
Your search returns 27 documents
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The aim of this study was to describe the clinical features and assess the prevalence of Familial Glucocorticoid Deficiency amongst Irish Travelers in the Republic of Ireland and describe their phenotype.
Abstract:
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities. The prevalence of FGD is unknown, with the likelihood that cases remain undiagnosed. We noted a significant proportion of our FGD cases are Irish Travelers. Irish Travelers are an endogamous nomadic group ethnically and more...
International Classification:
Endocrine, nutritional and metabolic disease - Familial Glucocorticoid Deficiency
Categories:
Familial Glucocorticoid Deficiency; Travellers
Geography:
Republic of Ireland
Journal of Clinical Endocrinology and Metabolism,
Vol: 93 Page: 2896-2899 2008
S. M. P. O'Riordan; S. A. Lynch; P. C. Hindmarsh; L. F. Chan; A. J. L. Clark; C. Costigan
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The aim of this study was to analysis the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk
Abstract:
BACKGROUND: Polymorphisms in the serine protease inhibitor gene serine peptidase inhibitor Kazal type 5 (SPINK5) and the serine protease kallikrein-related peptidase 7 gene (KLK7) appear to confer risk to eczema in some cohorts, but these findings have not been widely replicated. These genes encode proteins thought to be involved in the regulation of posttranslation processing of more...
International Classification:
Diseases of the skin and subcutaneous tissue - Dermatitis and eczema - eczema
Categories:
range of polymorphisms; -eczema risk
Geography:
International
J Allergy Clin Immunol,
Vol: 122 Page: 560-8 e4 September 2008
S. Weidinger; H. Baurecht; S. Wagenpfeil; J. Henderson; N. Novak; A. Sandilands; H. Chen; E. Rodriguez; G. M. O'Regan; R. Watson; H. Liao; Y. Zhao; J. N. Barker; M. Allen; N. Reynolds; S. Meggitt; K. Northstone; G. D. Smith; C. Strobl; C. Stahl; T. Kneib; N. Klopp; T. Bieber; H. Behrendt; C. N. Palmer; H. E. Wichmann; J. Ring; T. Illig; W. H. McLean; A. D. Irvine
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The aim of this study was to examine the association between the 1298A-->C polymorphism and 677C-->T polymorphism and neural tube defect in 276 complete triades (mother, father and child affected with an NTD)
Abstract:
The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A-->C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A-->C. Our findings more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - neural tube defects - condiction
Categories:
neural tube defects - MTHFR 1298A-->C polymorphism; -
Geography:
Republic of Ireland
J Hum Genet,
Vol: 48 Page: 190-3 2003
A. Parle-McDermott; J. L. Mills; P. N. Kirke; V. B. O'Leary; D. A. Swanson; F. Pangilinan; M. Conley; A. M. Molloy; C. Cox; J. M. Scott; L. C. Brody
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The aim of the study was to compare graft-versus-host-disease and survival after HLA-identical sibling bone marrow transplantation in ethnic populations
Abstract:
The association of ethnicity with the incidence of graft-versus-host disease (GVHD) and other clinical outcomes after transplantation is controversial. We compared the results of HLA-identical sibling bone marrow transplantations for leukemia, performed between 1990 and 1999, among different ethnic populations, including 562 Japanese, 829 white Americans, 71 African Americans, 195 more...
International Classification:
Organ transplants
Categories:
bone marrow transplantation
Geography:
International
Blood,
Vol: 105 Page: 1408-16 February 2005
H. Oh; Jr. F. R. Loberiza; M. J. Zhang; O. Ringden; H. Akiyama; T. Asai; S. Miyawaki; S. Okamoto; M. M. Horowitz; J. H. Antin; A. Bashey; J. M. Bird; M. H. Carabasi; J. W. Fay; R. P. Gale; R. H. Giller; J. M. Goldman; G. A. Hale; R. E. Harris; J. Henslee-Downey; H. J. Kolb; M. R. Litzow; P. L. McCarthy; S. M. Neudorf; D. S. Serna; G. Socie; P. Tiberghien; A. J. Barrett
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The aim of this study was to determine whether functional cytokine gene polymorphisms influence disease susceptibility and phenotype in patients with psoriatic arthritis
Abstract:
OBJECTIVE: To determine whether functional cytokine gene polymorphisms influence disease susceptibility and phenotype in patients with psoriatic arthritis (PsA). METHODS: DNA was obtained from 147 PsA patients and 389 controls. Seven functional proinflammatory (interleukin-1beta [IL-1beta] +3953, IL-6 -174, tumor necrosis factor alpha [TNFalpha] -308, TNFbeta +252) and antiinflammatory more...
International Classification:
Diseases of the musculoskeletal system and connective tissue - Papulosquamous disorders - psoriatic arthritis
Categories:
functional cytokine gene polymorphisms; -psoriatic arthritis
Geography:
Republic of Ireland
Arthritis Rheum,
Vol: 48 Page: 1408-13 May 2003
J. Balding; D. Kane; W. Livingstone; L. Mynett-Johnson; B. Bresnihan; O. Smith; O. FitzGerald
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The aim of this study was to describe first neuronally expressed exon 1 at the dopa decarboxylase gene and two microsatellite markers flanking the gene were investigated for possible association with attention-deficit hyperactivity disorder
Abstract:
Dopa decarboxylase (DDC) is an enzyme which catalyses the decarboxylation of both dopa to dopamine and L-5 hydroxytryptophan to serotonin. Both catecholamines are major neurotransmitters of the mammalian nervous system. It has been suggested that genes involved in the dopaminergic system play a primary role in predisposing to attention deficit hyperactivity disorder (ADHD). In this 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
Mol Psychiatry,
Vol: 6 Page: 420-4 July 2001
Z. Hawi; D. Foley; A. Kirley; M. McCarron; M. Fitzgerald; M. Gill
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The aim of this study was to describe the relationship between the VNTR, -521, and -616 SNPs and sustained attention performance in attention-deficit hyperactivity disorder probands, relative to a non-genotyped control group
Abstract:
Associations between attention deficit hyperactivity disorder (ADHD) and genetic variants within the dopamine D4 receptor gene have been much reported. Variants investigated include the 7-repeat allele of a VNTR within the third exon, and two SNPs (-521 and -616) located with the promoter region. We investigated the relationship between the VNTR, -521, and -616 SNPs and sustained 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
Am J Med Genet B Neuropsychiatr Genet,
Vol: 136B Page: 81-6 July 2005
M. A. Bellgrove; Z. Hawi; N. Lowe; A. Kirley; I. H. Robertson; M. Gill
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The aim of this study was to investigate whether six common polymorphisms in the TCII gene influence neural tube defect risk
Abstract:
BACKGROUND: Decreased maternal folate levels are associated with having a child with a neural tube defect (NTD), and periconceptual folic acid supplementation reduces this risk by >50%. Vitamin B(12) (as methylcobalamin) is a cofactor for methionine synthase, an enzyme that plays a key role in folate metabolism. Alterations in vitamin B(12) metabolism may influence the development of more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - neural tube defects - condiction
Categories:
six common polymorphisms; -neural tube defect
Geography:
Republic of Ireland
Birth Defects Res A Clin Mol Teratol,
Vol: 73 Page: 239-44 April 2005
D. A. Swanson; F. Pangilinan; J. L. Mills; P. N. Kirke; M. Conley; A. Weiler; T. Frey; A. Parle-McDermott; V. B. O'Leary; R. R. Seltzer; K. A. Moynihan; A. M. Molloy; H. Burke; J. M. Scott; L. C. Brody
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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 investigate the ACE I/D genotype, the M235 T polymorphism of the angiotensinogen gene and the A1166 C polymorphism of AT1R in the lungs of congenital diaphragmatic hernia complicated by persistent pulmonary hypertension
Abstract:
BACKGROUND/PURPOSE: The renin-angiotensin system plays an important role in pulmonary artery remodelling. Several polymorphisms of genes encoding for components of the renin angiotensin system such as the angiotensin converting enzyme (ACE), the angiotensinogen (AGT) gene, and the angiotensin II type 1 receptor (ATIR) have been associated with the development of pulmonary hypertension. more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - congenital diaphragmatic hernia
Categories:
angiotensinogen; -congenital diaphragmatic hernia complicated by persistent pulmonary hypertension
Geography:
Republic of Ireland
J Pediatr Surg,
Vol: 39 Page: 302-6; discussion 302-6 March 2004
V. Solari; P. Puri
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The aim of this study was to investigated whether polymorphisms in genes encoding these cytokines, and in those encoding anti-inflammatory IL-10 and IL-1Ra, are associated with the outcome in patients with meningococcal disease
Abstract:
Patients with meningococcal disease have increased plasma levels of proinflammatory cytokines IL-6, IL-1(beta), and TNF-(alpha), with higher levels associated with fatal outcome. This study investigated whether polymorphisms in genes encoding these cytokines, and in those encoding anti-inflammatory IL-10 and IL-1Ra, are associated with the outcome in patients with meningococcal disease. more...
International Classification:
Certain infectious and parasitic diseases - Other bacterial diseases - meningococcal disease
Categories:
cytokines; -meningococcal disease
Geography:
Republic of Ireland
Genes and Immunity,
Vol: 4 Page: 533-540 2003
J. Balding; C. M. Healy; W. J. Livingstone; B. White; L. Mynett-Johnson; M. Cafferkey; O. P. Smith
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The aim of this study was to describe HFE alleles in an Irish cystic fibrosis population
Abstract:
The variable clinical manifestations of cystic fibrosis (CF) suggest the influence of modifier genes. Genetic and environmental factors that determine whether an individual will develop associated complications are still being determined. It has been proposed that the gene for hemochromatosis, HFE, may be a modifier locus for CF disease phenotype. Recent research has suggested a more...
International Classification:
Endocrine, nutritional and metabolic diseases - Metabolic disorders - cystic fibrosis
Categories:
cystic fibrosis
Geography:
Republic of Ireland
Genet Test,
Vol: 7 Page: 155-8 2003 Summer
J. Devaney; M. Maher; T. Smith; J. A. Houghton; M. Glennon
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The aim of this study was to examine the prevalence of variant genotypes in mothers who had given birth to a child with Down syndrome and in control mothers, and investigated the biochemical factors influenced by the presence of MTRR A66G and MTHFR C677T
Abstract:
Polymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR C677T) and methionine synthase reductase (MTRR A66G) have been linked to the etiology of Down syndrome. We examined the prevalence of these variant genotypes in mothers who had given birth to a child with Down syndrome (n = 48) and in control mothers (n = 192), and investigated the more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Chromosomal abnormalities, not elsewhere classified - Down Syndrome
Categories:
variant genotypes; -Down syndrome
Geography:
Republic of Ireland
Am J Med Genet,
Vol: 107 Page: 151-5 January 2002
V. B. O'Leary; A. Parle-McDermott; A. M. Molloy; P. N. Kirke; Z. Johnson; M. Conley; J. M. Scott; J. L. Mills
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The aim of this study was to describe multiple marker analysis at the promoter region of the DRD4 gene and attention deficit hyperactivity disorder providing evidence of linkage and association with the SNP -616
Abstract:
Abnormalities of dopamine neurotransmission have been hypothesized to play an important role in the pathophysiology of attention deficit hyperactivity disorder (ADHD). Support for this has come from numerous association studies on candidate genes including the dopamine D4 receptor gene (DRD4). One of the most replicated associations between ADHD and the dopaminergic system is the 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
Am J Med Genet B Neuropsychiatr Genet,
Vol: 131B Page: 33-7 November 2004
N. Lowe; A. Kirley; C. Mullins; M. Fitzgerald; M. Gill; Z. Hawi
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The aim of this study was to detail the cystic fibrosis transmembrane conductance regulator variants in 31 unrelated cystic fibrosis patients
International Classification:
Endocrine, nutritional and metabolic diseases - Metabolic disorders - cystic fibrosis
Categories:
cystic fibrosis
Geography:
Northern Ireland
J Med Genet,
Vol: 38 Page: 136-9 February 2001
D. Hughes; T. Dork; M. Stuhrmann; C. Graham
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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
Abstract:
Attention deficit hyperactivity disorder (ADHD) is a highly heritable, common psychiatric disorder that presents in childhood and that probably involves several genes. There are several lines of evidence suggesting that the nicotinic system may be functionally significant in ADHD: (a) nicotine promotes the release of dopamine and has been shown to improve attention in adults with ADHD, 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 and the United Kingdom
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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The aim of this study was to examine the association of a variant in the HOXA1 gene and autism
Abstract:
Two recent studies have reported conflicting findings of association of a variant in the HOXA1 gene and autism. To try to resolve the conflict in findings, we conducted an association study in 78 Irish families of the reported DNA variants. We did not find statistically significant association between the variants and autism. Similarly there was no evidence of preferential transmission more...
International Classification:
Mental and behavioural disorders - Disorders of psychological development - autism
Categories:
autism
Geography:
Republic of Ireland
Am J Med Genet B Neuropsychiatr Genet,
Vol: 124B Page: 64-7 January 2004
L. Gallagher; Z. Hawi; G. Kearney; M. Fitzgerald; M. Gill
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The aim of this study was to examine linkage or association between the norepinephrine transporter gene polymorphisms and attention-deficit hyperactivity disorder in the Irish population
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
Am J Med Genet,
Vol: 114 Page: 665-6 August 2002
B. McEvoy; Z. Hawi; M. Fitzgerald; M. Gill
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The aim of this study was to investigate association of DRD4 polymorphisms with attention deficit hyperactivity disorder subtypes for which there is evidence for increased heritability.
Abstract:
The objective of this study was to investigate association of DRD4 polymorphisms with ADHD subtypes for which there is evidence for increased heritability. The genetic variants tested were the 120 bp insertion/deletion, the -616, -521, -376, and the 48 bp DRD4 VNTR. The primary analyses were of association with oppositional defiant disorder (ODD), conduct disorder (CD), and diagnostic 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
Am J Med Genet B Neuropsychiatr Genet,
Vol: 131B Page: 38-42 November 2004
A. Kirley; N. Lowe; C. Mullins; M. McCarron; G. Daly; I. Waldman; M. Fitzgerald; M. Gill; Z. Hawi
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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
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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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The aim of this study was to examine the prevalence of Factor V (FV) Leiden within the Irish population using Guthrie card samples randomly selected from all newborns
Abstract:
The prevalence of factor V (FV) Leiden among normal populations has primarily been determined using blood donors. This control group is carefully selected and therefore may not accurately reflect the true prevalence within the population. We assessed the prevalence of FV Leiden within the Irish population using Guthrie card samples randomly selected from all newborns. We compared this more...
International Classification:
Certain infectious and parastic diseases - Other viral diseases - mumps
Categories:
Factor V (FV) Leiden
Geography:
Republic of Ireland
Br J Haematol,
Vol: 111 Page: 559-61 November 2000
W. J. Livingstone; C. Keenan; B. White; L. Mynett-Johnson; M. Lawler; P. Mayne; O. P. Smith
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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,
Abstract:
Mutation detection methods based upon chemical or enzymatic cleavage of DNA offer excellent detection efficiencies coupled with high throughput and low unit cost. We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (GMPD) to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria more...
International Classification:
Endocrine, nutritional and metabolic diseases - Metabolic disorders - phenylketonuria
Categories:
glycosylase mediated polymorphism detection; -phenylketonuria; R408W; I65T;
Geography:
Republic of Ireland
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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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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The aim of this study was to undertake genomic analysis on the connective tissue growth factor gene, which has been implicated in the pathogenesis of diabetic nephropathy
Abstract:
Connective tissue growth factor (CTGF) has been implicated in the pathogenesis of diabetic nephropathy; however, to date there have been no reports of genomic analysis on this gene. The CTGF gene was comprehensively screened using WAVE (dHPLC) technology and direct capillary sequencing. Single nucleotide polymorphisms (SNPs) with minor allele frequencies greater than 5% were further more...
International Classification:
Endocrine, nutritional and metabolic diseases - diabetic nephropathy
Categories:
connective tissue growth factor gene; -diabetic nephropathy
Geography:
Northern Ireland
J Hum Genet,
Vol: 51 Page: 383-6 2006
A. J. McKnight; D. A. Savage; C. C. Patterson; H. R. Brady; A. P. Maxwell
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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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The aim of this study was to describe the association of eight single nucleotide polymorphisms in the TPH2 gene with attention-deficit hyperactivity disorder
Abstract:
Genetic and pharmacological studies have emphasised the role of serotonin 5-hydroxytryptamine (5-HT) as a possible etiologic factor in the development of attention-deficit hyperactivity disorder (ADHD). Tryptophan hydroxylase (TPH) is a rate-limiting enzyme in the biosynthesis of serotonin from tryptophan. Originally, the TPH gene was thought to be widely expressed, but a second form of 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
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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