Irish Child Health Database - Peer Reviewed Papers
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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 if Pro12Ala polymorphism of the peroxisome proliferator-activated receptor gamma gene could play a role in birth weight and duration of gestation
Abstract:
The links between preterm birth, low birth weight, and adult vascular/metabolic morbidity remain unclear. Genetic susceptibility of babies related to these three conditions might contribute to this long-term association. We tested whether the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor gamma (PPARG) gene could play a role in birth weight and duration of more...
International Classification:
Pregnancy, childbirth and the puerperium - birth weight
Categories:
birth weight; duration of gestation
Geography:
Northern Ireland
Diabetes,
Vol: 56 Page: 494-498 2007
A. Meirhaeghe; C. A. G. Boreham; L. J. Murray; F. Richard; G. Davey Smith; I. S. Young; P. Amouyel
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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 this study was to examine the ACE I/D genotype pattern in familial vesicoureteric reflux patients
Abstract:
Vesicoureteric reflux (VUR) is known to occur in families. In siblings of index patients with VUR, there is a much higher incidence (16% to 46%) than in the general population. The renin-angiotensin system plays an important role in renal development. Recently, it has been reported that angiotensin-converting enzyme (ACE) I/D gene polymorphism is a risk factor for renal parenchymal more...
International Classification:
Diseases of the genitourinary system - Renal tubulo-interstitial diseases - vesicoureteric reflux
Categories:
vesicoureteric reflux
Geography:
Republic of Ireland
Pediatr Surg Int,
Vol: 17 Page: 308-11 May 2001
A. Yoneda; T. Oue; P. Puri
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The aim of this study was to describe four polymorphisms and two markers in the MAO-A gene for association with attention-deficit hyperactivity disorder
Abstract:
Pharmacological and genetic studies suggest the importance of the dopaminergic, serotonergic, and noradrenergic systems in the pathogenesis of attention deficit hyperactivity disorder (ADHD). Monoamine oxidases A and B (MAO-A and MAO-B) degrade biogenic amines such as dopamine and serotonin and thereby control the levels of these neurotransmitters in the central nervous system. We 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: 134B Page: 110-4 April 2005
K. Domschke; K. Sheehan; N. Lowe; A. Kirley; C. Mullins; R. O'Sullivan; C. Freitag; T. Becker; J. Conroy; M. Fitzgerald; M. Gill; Z. Hawi
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The aim of this study was to examine association between dopamine transporter genotype, left-sided inattention, and an enhanced response to methylphenidate in attention-deficit hyperactivity disorder
Abstract:
A polymorphism of the dopamine transporter gene (DAT1, 10-repeat) is associated with attention-deficit hyperactivity disorder (ADHD) and has been linked to an enhanced response to methylphenidate (MPH). One aspect of the attention deficit in ADHD includes a subtle inattention to left space, resembling that seen after right cerebral hemisphere damage. Since left-sided inattention in 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:
methylphenidate; attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Neuropsychopharmacology,
Vol: 30 Page: 2290-7 December 2005
M. A. Bellgrove; Z. Hawi; A. Kirley; M. Fitzgerald; M. Gill; I. H. Robertson
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The aim of this study was to examine the role of DRD4 in children with attention-deficit hyperactivity disorder and comorbid conduct problems
Abstract:
Recent family and twin study findings suggest that ADHD when comorbid with conduct problems may represent a particularly familial and heritable form of ADHD. Although several independent groups have shown association between the DRD4 7 repeat allele and ADHD, others have failed to replicate this finding. Previous TDT analyses of UK and Eire samples had also been negative. We set out 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 and the United Kingdom
Am J Med Genet,
Vol: 114 Page: 150-3 March 2002
J. Holmes; A. Payton; J. Barrett; R. Harrington; P. McGuffin; M. Owen; W. Ollier; J. Worthington; M. Gill; A. Kirley; Z. Hawi; M. Fitzgerald; P. Asherson; S. Curran; J. Mill; A. Gould; E. Taylor; L. Kent; N. Craddock; A. Thapar
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The aim of this study was to examine the association between the allele 2 of the interleukin 1 receptor antagonist gene
Abstract:
BACKGROUND AND AIMS: An association between the allele 2 of the interleukin 1 receptor antagonist gene variable number tandem repeats polymorphism in intron 2 and ulcerative colitis was first reported in 1994. Subsequent studies in Caucasian Northern European patients have not confirmed this, although trends towards an association were observed. The lack of statistical significance more...
International Classification:
Diseases of the digestive system - Noninfective enteritis and colitis - ulcerative colitis
Categories:
allele 2 of the interleukin 1 receptor antagonist gene variable; -ulcerative colitis
Geography:
International
Gut,
Vol: 48 Page: 461-7 April 2001
M. J. Carter; F. S. di Giovine; S. Jones; J. Mee; N. J. Camp; A. J. Lobo; G. W. Duff
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The aim of this study was to investigate the genetic contribution of transforming growth factor-beta1 in familial vesicoureteral reflux by examining the genotype frequencies of transforming growth factor-beta1 polymorphic variants
Abstract:
PURPOSE: Familial clustering of vesicoureteral reflux suggests that genetic factors have an important role in the pathogenesis of vesicoureteral reflux. Transforming growth factor-beta1 is a multifunctional peptide that controls proliferation and differentiation in many cell types. Recently an association between the transforming growth factor-beta1 -509 and +869 gene polymorphism, and more...
International Classification:
Diseases of the genitourinary system - Renal tubulo-interstitial diseases - vesicoureteric reflux
Categories:
growth factor-beta1 in; vesicoureteral reflux
Geography:
Republic of Ireland
J Urol,
Vol: 178 Page: 1650-3 October 2007
S. Kuroda; V. Solari; P. Puri
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The aim of this study was to investigate genotype frequencies for polymorphisms of the TGF-beta1 gene at position -509, codon 10 and 25, and examine circulating levels of TGF-beta1 in patients with reflux nephropathy
Abstract:
PURPOSE: Reflux nephropathy (RN) is recognized as a major cause of end stage renal failure in children and young adults. Transforming growth factor-beta1 (TGF-beta1) is a potent proinflammatory and fibrogenetic cytokine known to have a key role in the regulation of renal tissue fibrosis. We investigate genotype frequencies for polymorphisms of the TGF-beta1 gene at position -509, codon more...
International Classification:
Diseases of the genitourinary system - reflux nephropathy
Categories:
genotype frequencies for polymorphisms of the TGF-beta1 gene; - reflux nephropathy
Geography:
Republic of Ireland
J Urol,
Vol: 174 Page: 1609-11; discussion 1611 October 2005
V. Solari; D. Owen; P. Puri
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The aim of this study was to characterise an Irish kindred with apparent autosomal dominant peripheral retinal lesions and peripapillary crescents associated with retinal breaks and uveitis to examine the association with altered homocysteine metabolism
Abstract:
PURPOSE: To characterise an Irish kindred with apparent autosomal dominant peripheral retinal lesions and peripapillary crescents associated with retinal breaks and uveitis and assess whether these findings were associated with altered homocysteine metabolism. METHODS: Family members were followed prospectively and regularly examined. Molecular genetic analysis was performed on family more...
International Classification:
Diseases of the eye and adnexa - Disorders of sclera, cornea, iris and ciliary body - uveitis
Categories:
peripheral retinal lesions; uveitis
Geography:
Republic of Ireland
Graefes Arch Clin Exp Ophthalmol,
Vol: 239 Page: 102-8 February 2001
M. Cahill; P. Gallagher; A. Whitehead; R. Acheson
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This study aimed to explore current practice in the molecular diagnosis of haemochromatosis and draft guidelines were prepared using the template developed by the United Kingdom Clinical Molecular Genetics Society
Abstract:
BACKGROUND: Hereditary haemochromatosis (HH) is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations. Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y) of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position more...
International Classification:
Practice/knowledge - Symptoms, signs and abonormal clinical and laboratory findings not elses were classified-haemochromatosis
Categories:
molecular diagnosis of haemochromatosis
Geography:
Republic of Ireland
BMC Med Genet,
Vol: 7 Page: 81 2006
C. King; D. E. Barton
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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
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The aim of this study was to examine the changing profile of rotavirus in Ireland: predominance of P[8] and emergence of P[6] and P[9] in mixed infections
Abstract:
Six hundred and thirty three fecal specimens were collected from patients under 6 years, suffering from non-bacterial, putative viral gastroenteritis in the south of Ireland, between 2003 and 2006. Following laboratory identification of rotavirus as the aetiological agent in 558 specimens, reverse transcriptase polymerase chain reaction was employed to amplify the VP7 and VP4 gene more...
International Classification:
International committee on Taxonomy of Viruses - rotavirus
Categories:
rotavirus
Geography:
Republic of Ireland
J Med Virol,
Vol: 80 Page: 524-30 March 2008
G. Lennon; N. Reidy; B. Cryan; S. Fanning; H. O'Shea
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The aim of this study was to investigate a combination of phenotypic and genotypic subspecies typing methods to aid in an epidemiological investigation of an outbreak of Salmonella bredeney
Abstract:
OBJECTIVES. To employ a combination of phenotypic and genotypic subspecies typing methods to aid in an epidemiological investigation of an outbreak of Salmonella bredeney involving ten persons. METHODS. Isolates were characterised by employing antibiogram typing, in addition to two genotyping techniques, including pulsed field gel electrophoresis (PFGE), random amplification of more...
International Classification:
Other - Salmonella bredeney
Categories:
Salmonella bredeney
Geography:
Northern Ireland
J Infect,
Vol: 47 Page: 33-9 July 2003
J. E. Moore; L. Murray; S. Fanning; M. Cormican; M. Daly; N. Delappe; B. Morgan; P. G. Murphy
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The aim of this study was to examine the spectrum of the mutations identified in the gene responsible for cystic fibrosis in three cohorts of patients of Celtic origin from Brittany and Ireland.
Abstract:
This study aims to compare the spectrum of the mutations identified in the gene responsible for cystic fibrosis in three cohorts of patients of Celtic origin from Brittany and Ireland. It included 389 patients from Brittany, 631 from Dublin and 139 from Cork. The CFTR gene analysis relied on the detection of the most common mutations, followed by a complete gene scanning using DGGE or more...
International Classification:
Endocrine, nutritional and metabolic diseases - Metabolic disorders - cystic fibrosis
Categories:
cystic fibrosis
Geography:
International
Hum Mutat,
Vol: 22 Page: 105 July 2003
V. Scotet; D. E. Barton; J. B. Watson; M. P. Audrezet; T. McDevitt; S. McQuaid; C. Shortt; M. De Braekeleer; C. Ferec; C. Le Marechal
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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
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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
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The aim of this study was to estimate the cost-effectiveness of thiopurine methyltransferase genotyping prior to thiopurine treatment in children with acute lymphoblastic leukemia
Abstract:
Only a few studies have addressed the cost-effectiveness of pharmacogenetics interventions in healthcare. Lack of health economics data on aspects of pharmacogenetics is perceived as one of the barriers hindering its implementation for improving drug safety. Thus, a recent Institute for Prospective Technological Studies (IPTS) study, entitled 'Pharmacogenetics and pharmacogenomics: more...
International Classification:
Economic - Acute lymphoblastic leukemia
Categories:
treatment in acute lymphoblastic leukemia
Geography:
International
Pharmacogenomics,
Vol: 7 Page: 783-92 July 2006
M. E. van den Akker-van Marle; D. Gurwitz; S. B. Detmar; C. M. Enzing; M. M. Hopkins; E. Gutierrez de Mesa; D. Ibarreta
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This study examined the dermatological features of Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in an Irish case series with emphasis on timing of their appearance and association with disease severity
Abstract:
BACKGROUND: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED; OMIM 240300) is a rare autosomal recessive disorder defined by a variable combination of endocrine failure, chronic mucocutaneous candidiasis (CMC), and dystrophy of the dental enamel and nails. APECED is caused by mutations in the autoimmune regulator gene (AIRE). Alopecia areata (AA) and more...
International Classification:
Syndrome - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Categories:
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Geography:
Republic of Ireland
Br J Dermatol,
Vol: 154 Page: 1088-93 June 2006
S. M. Collins; M. Dominguez; T. Ilmarinen; C. Costigan; A. D. Irvine
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The aim of this study was to examine faeces collected from patients with non-bacterial, non-rotaviral gastroenteritis and examine if Norwalk-like viruses and astroviruses could be identified as the causative agents of the illness
Abstract:
BACKGROUND: 'Norwalk-like viruses' (NLV) and astroviruses are recognised as the most important etiologic agents of viral gastroenteritis, excluding rotaviruses. However, neither of these two groups of viruses is routinely screened for in Irish hospital laboratories. OBJECTIVE: The objective of this study was to examine faeces collected from patients with non-bacterial, non-rotaviral more...
International Classification:
International committee on Taxonomy of Viruses - Norwalk-like viruses, Astroviruses
Categories:
Norwalk-like viruses; Astroviruses
Geography:
Republic of Ireland
J Clin Virol,
Vol: 17 Page: 109-17 August 2000
B. Foley; J. O'Mahony; S. M. Morgan; C. Hill; J. G. Morgan
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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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This study examined the optimal strategy to investigate mumps virus infection in a partially vaccinated cohort.
Abstract:
OBJECTIVE: To determine the optimal strategy to investigate mumps virus infection in a partially vaccinated cohort. STUDY DESIGN: 122 oral fluid and serum samples were collected in a recent outbreak in Ireland. The largest age cohort, students aged 18-21 years old attending third level institutions, were investigated using virus isolation, detection of mumps specific IgM, IgG, RT-PCR more...
International Classification:
Vaccinations optimal strategy for mumps
Categories:
optimal strategy; mumps; vaccination
Geography:
Republic of Ireland
J Clin Virol,
Vol: 41 Page: 134-7 February 2008
F. Reid; J. Hassan; F. Irwin; A. Waters; W. Hall; J. Connell
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The aim of this study was to examine the distribution and frequency of 25S rRNA intron genotypes of Candida albicans isolated from different anatomical sites of patients in an intensive care unit setting
Abstract:
A study is performed to examine the distribution and frequency of 25S rRNA intron genotypes of Candida albicans isolated from different anatomical sites of patients in an intensive care unit (ICU) setting. Germ-tube positive Candida isolates (n=65) from 65 patients are included and isolates are characterised by 25S intron genotyping, whereby all can be subdivided into four genotypes more...
International Classification:
Fungi - Candida albicans
Categories:
Candida albicans
Geography:
Northern Ireland
Br J Biomed Sci,
Vol: 62 Page: 24-7 2005
B. C. Millar; J. Xu; R. McMullan; M. J. Walker; S. Hedderwick; J. E. Moore
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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 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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This paper discusses the Hepatitis B genotype and YMDD profiles in an untreated Irish population
Geography:
Republic of Ireland
J Clin Virol,
Vol: 35 Page: 203-4 February 2006
M. Horgan; E. Brannigan; B. Crowley; J. Levis; L. J. Fanning
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The aim of this study was to investigate a large cohort of children with juvenile dermatomyositis, and those with JDM-scleroderma (JDM-SSc) overlap, using detailed serological analysis, HLA class II genotyping and clinical characterization.
Abstract:
OBJECTIVES: To investigate a large cohort of children with juvenile dermatomyositis (JDM), and those with JDM-scleroderma (JDM-SSc) overlap, using detailed serological analysis, HLA class II genotyping and clinical characterization. METHODS: Children (114) with JDM were recruited, and clinical data collected, through the JDM National Registry and Repository (UK and Ireland). Sera were more...
International Classification:
Diseases of the musculoskeletal system and connective tissue - Systemic connective tissue disorders - dermatomyositis
Categories:
HLA class II genotyping; juvenile dermatomyositis
Geography:
Republic of Ireland and the United Kingdom
Rheumatology (Oxford),
Vol: 46 Page: 1786-91 December 2007
L. R. Wedderburn; N. J. McHugh; H. Chinoy; R. G. Cooper; F. Salway; W. E. Ollier; L. J. McCann; H. Varsani; J. Dunphy; J. North; J. E. Davidson
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The aim of the study was to examine the urban-rural variation in mortality and hospital admission rates for unintentional injury in Ireland
Abstract:
It has been recognized recently that human cryptosporidiosis is usually caused by Cryptosporidium parvum genotype I ("human" C. parvum), which is not found in animals. Compared to C. parvum genotype II, little is known of the biology of invasion of the human-restricted C. parvum genotype I. The aims of the present study were (i) to explore and compare with genotype II the more...
International Classification:
Injury, poisoning and certain other consequences of external causes - unintentional injury
Categories:
urban-rural variation in mortality
Geography:
Republic of Ireland
Infect Immun,
Vol: 72 Page: 6125-31 October 2004
A. Hashim; M. Clyne; G. Mulcahy; D. Akiyoshi; R. Chalmers; B. Bourke
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The aim of this study was to examine intelligence in DSM-IV combined type attention-deficit/hyperactivity disorder is predicted by either dopamine receptor/transporter genes or other previously identified risk alleles
Abstract:
A major goal of genetic studies of attention deficit hyperactivity disorder (ADHD) is to identify individual characteristics that might help segregate the disorder's inherent heterogeneity. [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] recently reported a potentially important association between two dopamine-related risk polymorphisms (DRD4 variable number tandem repeat (VNTR) 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:
International
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics,
Vol: 147 Page: 316-319 2008
E. J. S. Sonuga-Barke; K. J. Brookes; J. Buitelaar; R. Anney; P. Bitsakou; D. Baeyens; C. Buschgens; W. Chen; H. Christiansen; J. Eisenberg; J. Kuntsi; I. Manor; A. Melia; A. Mulligan; N. Rommelse; U. C. Muller; H. Uebel; T. Banaschewski; R. Ebstein; B. Franke; M. Gill; A. Miranda; R. D. Oades; H. Roeyers; A. Rothenberger; J. Sergeant; H. C. Steinhausen; M. Thompson; E. Taylor; P. Asherson; S. V. Faraone
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This aim of this study was to screen renal transplant recipients and donors for the commonest prothrombotic genotypes
Abstract:
This single center study is the largest series of renal transplant recipients and donors screened for the commonest prothrombotic genotypes. A total of 562 transplant recipients and 457 kidney donors were genotyped for the factor V Leiden and prothrombin G20210A mutations. The prevalence of heterozygous factor V Leiden was 3.4% and 2.6% and prothrombin G20210A was 2.0% and 1.1% in more...
International Classification:
Organ transplants - renal
Categories:
renal transplant recipients; renal transplant donors;prothrombotic genotypes
Geography:
Northern Ireland
Transplantation,
Vol: 76 Page: 603-5 August 2003
A. D. Pherwani; P. C. Winter; P. T. McNamee; C. C. Patterson; C. M. Hill; J. K. Connolly; A. P. Maxwell
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The aim of this study was to examine the molecular characterization of rotavirus in Ireland: and the detection of novel strains circulating in the population
Abstract:
A collection of three hundred thirty rotavirus-positive stool samples from children with diarrhea in the southern and eastern regions of Ireland between 1997 and 1999 were submitted to the Molecular Diagnostics Unit of the Cork Institute of Technology, Cork, Ireland, for investigation. These strains were characterized by several methods, including polyacrylamide gel electropherotyping more...
International Classification:
International committee on Taxonomy of Viruses - rotavirus
Categories:
rotavirus
Geography:
Republic of Ireland
J Clin Microbiol,
Vol: 38 Page: 3370-4 September 2000
F. O'Halloran; M. Lynch; B. Cryan; H. O'Shea; S. Fanning
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The aim of this study was to examine the genotype of C. parvum oocysts isolated from human faeces in sporadic cases of cryptosporidiosis in Northern Ireland
Abstract:
BACKGROUND: Cryptosporidium parvum is the most common of the protozoal pathogens associated with gastrointestinal disease in Northern Ireland. Genotyping techniques are valuable in helping to elucidate sources and modes of transmission of this parasite. There have been no reports on the prevalence of genotypes in Northern Ireland, mainly due to a lack of discriminatory genotyping more...
International Classification:
Certain infectious and parasitic diseases - Intestinal infectious diseases - cryptosporidiosis
Categories:
cryptosporidiosis
Geography:
Northern Ireland
Ir J Med Sci,
Vol: 170 Page: 246-50 2001 Oct-Dec
C. J. Lowery; B. C. Millar; J. E. Moore; J. Xu; L. Xiao; P. J. Rooney; L. Crothers; J. S. Dooley
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This article discusses molecular genotyping of Irish rotavirus strains
Abstract:
Rotavirus is the primary etiological agent of gastroenteritis in infants and young children worldwide. In developing countries, it is estimated that rotavirus is responsible for one-third of all diarrhea-associated hospitalizations and 873,000 deaths annually. In industrialized countries, where mortality from rotavirus is low, infection is widespread, and nearly all children experience more...
Geography:
Republic of Ireland
Methods Mol Biol,
Vol: 268 Page: 89-102 2004
F. O'Halloran; S. Fanning
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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 the incidence of invasive pneumococcal disease in the Republic of Ireland and to examine the associated isolates
Abstract:
A national study was undertaken to investigate the incidence of invasive pneumococcal disease in the Republic of Ireland and to examine the associated isolates. In 1999, 144 S. pneumoniae isolates, all recovered from cases of invasive disease, were received from 12 microbiology laboratories. The incidence of invasive pneumococcal disease was estimated to be 6.6/100,000 population. All more...
International Classification:
Bacterium - Invasive pneumococca
Categories:
invasive pneumococca
Geography:
Republic of Ireland
Journal of Clinical Microbiology,
Vol: 41 Page: 3641-3648 2003
D. Bennett; B. Lennon; H. Humphreys; M. Cafferkey
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The aim of this study was to verify whether amplification of invasive Haemophilus influenzae type b strains is involved in vaccine failure
Abstract:
Most invasive Haemophilus influenzae type b strains possess a duplication of the capsulation locus. Further amplification resulting in as many as 5 copies has been described. To verify whether amplification is involved in vaccine failure, the number of copies of the locus was determined by Southern blotting in 90 strains from children with true vaccine failure (TVF) between 1993 and more...
International Classification:
Vaccination
Categories:
haemophilus influenzae type b strains; - vaccine failure
Geography:
Republic of Ireland and the United Kingdom
Journal of Infectious Diseases,
Vol: 192 Page: 819-823 2005
M. Cerquetti; R. Cardines; Ml; M. Giufré; A. Bella; T. Sofia; P. Mastrantonio; M. Slack
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The aim of this study was to describe the association of protein kinase C-beta 1 gene variants with autism in the Irish population
Abstract:
Some evidences indicate that protein kinase C-beta 1 (PRKCB1) gene may be a predisposition locus of autism. A recent study reported evidence of association between autism and two haplotypes made up of six noncoding single nucleotide polymorphisms in the PRKCB1. To attempt replication of their findings, we examined the same six single nucleotide polymorphisms of PRKCB1 in 171 Irish more...
International Classification:
Mental and behavioural disorders - Disorders of psychological development - autism
Categories:
autism
Geography:
Republic of Ireland
Psychiatr Genet,
Vol: 17 Page: 39-41 February 2007
M. S. Yang; L. Cochrane; J. Conroy; Z. Hawi; M. Fitzgerald; L. Gallagher; M. Gill
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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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This study determined risk factors associated with renal damage in patients with primary familial vesicoureteral reflux
Abstract:
PURPOSE: The association of vesicoureteral reflux, urinary tract infection and renal parenchymal damage is well known. Recently, it was reported that the angiotensin converting enzyme (ACE) DD gene polymorphism is a risk factor for renal damage in patients with congenital uropathies and high grade vesicoureteral reflux. We determine risk factors associated with renal damage in patients more...
International Classification:
Diseases of the genitourinary system - Renal tubulo-interstitial diseases - vesicoureteric reflux
Categories:
vesicoureteral reflux
Geography:
Republic of Ireland
J Urol,
Vol: 168 Page: 1704-7 October 2002
A. Yoneda; S. Cascio; T. Oue; B. Chertin; P. Puri
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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 examine the significant prevalence and genetic diversity of norovirus infection in Irish children
Abstract:
Pediatric gastroenteritis places a considerable disease burden on children of the developed world. The national surveillance of gastroenteritis in Ireland is a combined virological and epidemiologic surveillance program. The objectives of this study were to characterize the norovirus (NoV) genotypes associated with viral gastroenteritis in children more...
International Classification:
International committee on Taxonomy of Viruses - norovirus
Categories:
norovirus infection
Geography:
Republic of Ireland
Pediatr Res,
Vol: 64 Page: 312-6 September 2008
A. Waters; L. Dunford; G. Tuite; J. Connell; S. Dooley; B. Foley; P. McKeown; W. W. Hall; S. Coughlan
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This study reports the suboptimal measles-mumps-rubella vaccination coverage facilitates an imported measles outbreak in ireland
Abstract:
The year 2000 saw a dramatic increase in the incidence of measles infections in Ireland, with >1500 cases documented. Initial cases were reported from an area of Dublin with low vaccine uptake and a large immigrant population. Molecular epidemiologic findings revealed that the strain of measles virus responsible for this outbreak was the genotype D2 strain, which is closely related to more...
International Classification:
Surveillance - Vaccinations
Categories:
measles-mumps-rubella vaccination;measles;
Geography:
Republic of Ireland
Clin Infect Dis,
Vol: 35 Page: 84-6 July 2002
S. Coughlan; J. Connell; B. Cohen; L. Jin; W. W. Hall
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The aim of this study was to examine the C677T polymorphism in the methylenetetrahydrofolate reductase gene, maternal use of folic acid supplements, and risk of isolated clubfoot
Abstract:
Worldwide, 1-4 per 1,000 births are affected by clubfoot. Clubfoot etiology is unclear, but both genetic and environmental factors are thought to be involved. Low folate status in pregnant women has been implicated in several congenital malformations, and folate metabolism may be affected by polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR). Using a case-parent-triad more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities or Disease of the musculoskeletal system and connective tissue-clubfoot
Categories:
clubfoot
Geography:
the United Kingdom
Am J Epidemiol,
Vol: 164 Page: 852-61 November 2006
L. Sharp; Z. Miedzybrodzka; A. H. Cardy; J. Inglis; L. Madrigal; S. Barker; D. Chesney; C. Clark; N. Maffulli
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The aim of this study was to examine diverse genotypes of methicillin-resistant Staphylococcus aureus harboring the Panton-Valentine leukocidin gene reveal that it as a poor marker for community-acquired MRSA strains in Ireland
Abstract:
Community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) carrying pvl is an emerging problem worldwide. CA-MRSA tends to harbor staphylococcal cassette chromosome mec type IV (SCCmec IV), to be non-multiantibiotic resistant, and to have different genotypes from the local hospital-acquired MRSA (HA-MRSA). However, in Ireland, 80% of HA-MRSA isolates have the more...
International Classification:
Methicillin-resistant Staphylococcus aureus
Categories:
methicillin resistant staphylococcus aureus
Geography:
Republic of Ireland
J Clin Microbiol,
Vol: 45 Page: 2554-63 August 2007
A. S. Rossney; A. C. Shore; P. M. Morgan; M. M. Fitzgibbon; B. O'Connell; D. C. Coleman
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The aim of this study was to examine the association of methionine allele of the COMT polymorphism which impairs prefrontal cognition in children and adolescents with attention-deficit hyperactivity disorder
Abstract:
ADHD is a highly heritable psychiatric disorder of childhood. A functional polymorphism (Val158Met) of the catechol-O-methyltransferase (COMT) gene has attracted interest as a candidate gene for ADHD. The high-activity valine variant of this polymorphism degrades prefrontal dopamine three to four times more quickly than the low-activity methionine variant and could therefore contribute 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
Exp Brain Res,
Vol: 163 Page: 352-60 June 2005
M. A. Bellgrove; K. Domschke; Z. Hawi; A. Kirley; C. Mullins; I. H. Robertson; M. Gill
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