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- Yung-Hao Ching, Tushar K. Ghosh, +15 authors J. David Brook
- Nature Genetics
- 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 14q12 in a large family with dominantly… (More)
- Elsa Reid, Andrew M Dearlove, M. Rhodes, David C Rubinsztein
- American journal of human genetics
- 1999
Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is clinically characterized by slowly progressive lower-limb spasticity. The condition is genetically heterogeneous, and loci have been… (More)
- Mina Ohadi, M. R. A. Lalloz, +6 authors David Mark Layton
- American journal of human genetics
- 1999
Familial hemophagocytic lymphohistiocytosis (FHL), also known as familial erythrophagocytic lymphohistiocytosis and familial histiocytic reticulosis, is a rare autosomal recessive disorder of early… (More)
- Evan Reid, Andrew M Dearlove, Olivia Osborn, Mark T. Rogers, David C Rubinsztein
- American journal of human genetics
- 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 genomewide linkage screen of a large family… (More)
- Alistair L. King, JohnY. Yiannakou, +8 authors Paul J. Ciclitira
- Annals of human genetics
- 2000
The susceptibility to develop coeliac disease (CD) has a strong genetic component, which is not entirely explained by HLA associations. Two previous genome wide linkage studies have been performed to… (More)
- Nicola K. Ragge, Claire Hartley, Andrew M Dearlove, Jason R. Walker, Isabelle M. Russell-Eggitt, Christopher M Harris
- Journal of medical genetics
- 2001
PURPOSE
To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus.
DESIGN
Observational and… (More)
- Evan Reid, Andrew Escayg, Andrew M Dearlove, Miriam H. Meisler, David C Rubinsztein
- Journal of medical genetics
- 2001
Editor—The hereditary spastic paraplegias (HSPs) are clinically characterised by progressive lower limb spasticity. The spasticity may occur in isolation (“pure”) or may be complicated by other major… (More)
- Anna King, Simon J Moodie, +4 authors Paul J. Ciclitira
- European journal of immunogenetics : official…
- 2003
Coeliac disease (CD) is an immune-mediated enteropathy triggered by gluten in genetically predisposed individuals. Patients with CD have an increased prevalence of other autoimmune disorders,… (More)
- David Curtis, P Brett, +4 authors Hugh M D Gurling
- Psychiatric genetics
- 2004
OBJECTIVES
To localize genes influencing the susceptibility to Gilles de la Tourette syndrome (GTS) and associated chronic multiple tics (CMT).
METHOD
A single, large, multiple affected pedigree… (More)
- Anna King, James S. Fraser, +5 authors Paul J. Ciclitira
- Annals of human genetics
- 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 region must also be involved in disease… (More)