Irish Child Health Database - Peer Reviewed Papers
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The aim of this study was to examine the prevalence and characterization of enteric adenoviruses in the South of Ireland
Abstract:
Enteric adenoviruses have been shown to be a substantial cause of pediatric gastroenteritis in various parts of the world, and are considered to be the second most common cause of viral gastroenteritis, next to rotavirus in young children. Genetic characterization of 95 adenovirus isolates obtained from patients with acute gastroenteritis between 2002 and 2007 from the southern regions more...
International Classification:
International committee on Taxonomy of Viruses - adenovirus
Categories:
enteric adenoviruses
Geography:
Republic of Ireland
J Med Virol,
Vol: 79 Page: 1518-26 October 2007
G. Lennon; O. Cashman; K. Lane; B. Cryan; H. O'Shea
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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 examine the prevalence of tuberous sclerosis complex, the clinical features attributed to it, and the availability of mutational analysis
Abstract:
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes on chromosomes 9 and 16 respectively. Diagnosis is based on clinical features but can be difficult as a result of variable phenotypic expression. With the advantage of mutation analysis in making a diagnosis of TSC, and improved identification of the associated clinical more...
International Classification:
Certain infectious and parasitic diseases - Tuberculosis - tuberculosis
Categories:
Tuberous sclerosis complex
Geography:
Northern Ireland
Developmental Medicine & Child Neurology,
Vol: 48 Page: 495-499 2006
L. A. Devlin; C. H. Shepherd; H. Crawford; P. Morrison
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