Irish Child Health Database - Peer Reviewed Papers
Database Search
Irish Child Health Database »
»
M » Membrane Proteins/ genetics
Membrane Proteins/ genetics
Your search returns 4 documents
-
This case report describes the pattern of early childhood seizures within a family with autosomal dominant chondrocalcinosis (CCAL, which causes adult-onset arthritis)
Abstract:
We describe the pattern of early childhood seizures within a family with autosomal dominant chondrocalcinosis (CCAL, which causes adult-onset arthritis). All affected family members with CCAL experienced seizures in early childhood, usually, but not always, associated with fever. Similarities exist to the syndrome of generalized epilepsy with febrile seizures plus (GEFS+). A mutation more...
International Classification:
Diseases of the musculoskeletal system and connective tissue - Report
Categories:
autosomal dominant chondrocalcinosis;
Geography:
Northern Ireland
Epilepsia,
Vol: 45 Page: 1258-60 October 2004
S. McKee; A. Pendleton; J. Dixey; M. Doherty; A. Hughes
[Preview]
[Read]
-
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
[Preview]
[Read]
-
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
[Preview]
[Read]
-
The aim of this study was to describe the association of SNAP-25/DdeI allelel and attention-deficit hyperactivity disorder cases
Abstract:
Several lines of evidence have suggested that ADHD is a polygenic disorder produced by the interaction of several genes each of a minor effect. Synaptosomal-associated protein 25 (SNAP-25) is a presynaptic plasma membrane protein which is expressed highly and specifically in the nerve cells. The gene encodes a protein essential for synaptic vesicle fusion and neurotransmitter release. 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: 7 Page: 913-7 2002
K. Brophy; Z. Hawi; A. Kirley; M. Fitzgerald; M. Gill
[Preview]
[Read]
