Irish Child Health Database - Peer Reviewed Papers
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gene mutation
Your search returns 4 documents
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The aim of this study was to examine genetic conditions in the Irish Roma gypsy population
Abstract:
Roma gypsy represent a new Irish ethnic minority population with a distinct cultural and racial heritage. There is a strong Roma tradition of consanguinity, which can increase the likelihood of having a child affected by an autosomal recessive disorder. We describe 6 patients from the Roma community who had presented with 4 different autosomal recessive conditions not previously seen in more...
International Classification:
Other - the Irish Roma gypsy population
Categories:
the Irish Roma gypsy population
Geography:
Republic of Ireland
Irish Medical Journal,
Vol: 98 Page: 3p 2005
S. O'Connell; K. Butler; J. McMenamin; M. Waldron; A. J. Green
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This case report discusses maturity onset diabetes in the young - type 3
International Classification:
Endocrine, nutritional and metabolic diseases-Report
Categories:
diabetes
Geography:
Republic of Ireland
Irish Medical Journal,
Vol: 98 Page: 28-29 2005
M. C. Samaan; A. Brennan; H. Fitzgerald; E. F. Roche; H. M. C. V. Hoey
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The aim of this study was to examine mitochondrial cytopathies and the associated phenotypic heterogeneity
Abstract:
Mitochondrial respiratory chain disorders account for significant and varied presentations in paediatric practice. The true prevalence of these disorders in the paediatric population is still not well documented with predicted geographic variation. We report a retrospective analysis over a seven year period of cases presenting to a tertiary care centre and associated clinical features. more...
International Classification:
Other - Mitochondrial cytopathies
Categories:
Mitochondrial cytopathies
Geography:
Republic of Ireland
Irish Medical Journal,
Vol: 99 Page: 2006
E. P. Treacy; R. McConn-Walsh; P. Mayne; P. Rustin; G. K. Brown; A. Monavari; E. Ryan; M. D. King
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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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