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Your search keyword '"Trembath, R.C."' showing total 3 results
Start Over Author "Trembath, R.C." Topic medical genetics
3 results on '"Trembath, R.C."'

1. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes.

Author

Aldred, M.A., Sanford, R.O.C., Thomas, N.S., Barrow, M.A., Wilson, L.C., Brueton, L.A., Bonaglia, M.C., Hennekam, R.C.M., Eng, C., Dennis, N.R., and Trembath, R.C.

Subjects
MEDICAL dosimetry, FACIAL abnormalities, PSEUDO-pseudohypoparathyroidism, PHENOTYPES, MEDICAL genetics, HUMAN genetics
Abstract

Explains that medical genetics researchers have conducted detailed dosimetric analysis in 20 patients with monosomy 2q37. Minimum deleted region in patients with characteristic facial dysmorphism and Albright hereditary osteodystrophy-like brachymetaphalangism; No clear genotype-phenotype correlations could be drawn that would help predict clinical prognosis.

Published
2004
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2. Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility.

Author

Capon, F., Toal, I.K., Evans, J.C., Allen, M.H., Patel, S., Tillman, D., Burden, D., Barker, J.N.W.N., and Trembath, R.C.

Subjects
PSORIASIS, ALLELES, MEDICAL genetics, GENES
Abstract

Investigates the validity of the hypothesis of corneodesmosin (CDSN) involvement in psoriasis. Confirmation that the rare haplotype cluster D is a risk haplotype originating from the Gujurat region of northern India; Definition of CDSN genetic variation by an association study of intragenic single nucleotide polymorphism (SNP) haplotypes; Identification of 16 SNP chromosomes conferring significant disease risk both in the UK and the Gujuriti data sets.

Published
2003
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3. Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis.

Author

Capon, F., Helms, C., Veal, C.D., Tillman, D., Burden, A.D., Barker, J.N., Bowcock, A.M., and Trembath, R.C.

Subjects
PSORIASIS, GENETICS of disease susceptibility, MEDICAL genetics, GENETIC polymorphisms, FAMILIAL diseases, GENETIC markers
Abstract

Explains that genetic analysis of susceptibility locus PSORS2 markers in a Great Britain dataset supports the association between RAPTOR single nucleotide polymorphisms SNPs and familial psoriasis. Multifactorial skin disorder; PSOSRS maps to the Major Histocompatibility Complex on chromosome 6p21; Two distinct association peaks.

Published
2004
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