Search Results - "DEARLOVE, A. M."
-
1
A New Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Mapping to Chromosome 12q13, and Evidence for Further Genetic Heterogeneity
Published in American journal of human genetics (01-09-1999)“…Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is clinically characterized by slowly progressive lower-limb spasticity. The condition is…”
Get full text
Journal Article -
2
A Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Maps to Chromosome 19q13
Published in American journal of human genetics (01-02-2000)“…Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. We undertook a…”
Get full text
Journal Article -
3
Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping
Published in American journal of human genetics (1999)“…Familial hemophagocytic lymphohistiocytosis (FHL), also known as familial erythrophagocytic lymphohistiocytosis and familial histiocytic reticulosis, is a rare…”
Get full text
Journal Article -
4
Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus
Published in Journal of medical genetics (01-01-2003)“…Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital…”
Get full text
Journal Article -
5
A genome-wide family-based linkage study of coeliac disease
Published in Annals of human genetics (01-11-2000)“…The susceptibility to develop coeliac disease (CD) has a strong genetic component, which is not entirely explained by HLA associations. Two previous genome…”
Get full text
Journal Article -
6
Autosomal dominant spastic paraplegia : Refined SPG8 locus and additional genetic heterogeneity
Published in Neurology (10-11-1999)“…To map the gene responsible for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) in a large affected family. Autosomal dominant pure hereditary…”
Get full text
Journal Article -
7
CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families
Published in Journal of medical genetics (01-01-2002)Get full text
Journal Article -
8
Genome scan of Tourette syndrome in a single large pedigree shows some support for linkage to regions of chromosomes 5, 10 and 13
Published in Psychiatric genetics (01-06-2004)“…To localize genes influencing the susceptibility to Gilles de la Tourette syndrome (GTS) and associated chronic multiple tics (CMT). A single, large, multiple…”
Get full text
Journal Article -
9
Coeliac disease: follow-up linkage study provides further support for existence of a susceptibility locus on chromosome 11p11
Published in Annals of human genetics (01-07-2001)“…Susceptibility to coeliac disease has a strong genetic component. The HLA associations have been well described but it is clear that other genes outside this…”
Get full text
Journal Article -
10
The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate
Published in Journal of medical genetics (01-01-2001)Get full text
Journal Article -
11
Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity
Published in Journal of medical genetics (01-10-2000)“…To date, genes for four autosomal dominant epileptic diseases have been mapped or cloned: benign familial neonatal convulsions at chromosomes 20q13 (EBN1) and…”
Get full text
Journal Article -
12
Coeliac disease: investigation of proposed causal variants in the CTLA4 gene region
Published in European journal of immunogenetics (01-12-2003)“…Summary Coeliac disease (CD) is an immune‐mediated enteropathy triggered by gluten in genetically predisposed individuals. Patients with CD have an increased…”
Get full text
Journal Article -
13
Coeliac disease: follow‐up linkage study provides further support for existence of a susceptibility locus on chromosome 11p11
Published in Annals of human genetics (01-07-2001)“…Susceptibility to coeliac disease has a strong genetic component. The HLA associations have been well described but it is clear that other genes outside this…”
Get full text
Journal Article -
14
Mutation in myosin heavy chain 6 causes atrial septal defect
Published in Nature genetics (01-04-2005)“…Atrial septal defect is one of the most common forms of congenital heart malformation. We identified a new locus linked with atrial septal defect on chromosome…”
Get full text
Journal Article -
15
High throughput genotyping technologies
Published in Briefings in functional genomics & proteomics (01-07-2002)“…A comprehensive genetic map containing several hundred microsatellite markers resulted from a large microsatellite mapping project. This was the first real…”
Get full text
Journal Article -
16