Search Results - "CONNARTY, M"

Comparison of Methods for Yield Assessment of Multiple Reservoir Systems by Dandy, G. C, Connarty, M. C, Loucks, D. P

“…This paper compares four different methods for estimating the yield of a multiple reservoir system. These include simulation, a combined…”
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Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy by CONNARTY, M, DENNIS, N. R, PATCH, C, MACPHERSEN, J. N, HARVEY, J. F

“…Dentatorubral and pallidolysian atrophy (DRPLA), a neurological disorder thought to be rare in European populations, is caused by a triplet repeat expansion in…”
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Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats by Rubinsztein, D C, Leggo, J, Coles, R, Almqvist, E, Biancalana, V, Cassiman, J J, Chotai, K, Connarty, M, Crauford, D, Curtis, A, Curtis, D, Davidson, M J, Differ, A M, Dode, C, Dodge, A, Frontali, M, Ranen, N G, Stine, O C, Sherr, M, Abbott, M H, Franz, M L, Graham, C A, Harper, P S, Hedreen, J C, Hayden, M R

“…Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease (HD). In the diagnostic setting it is necessary to define the limits of the…”
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Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK by Leggo, J, Dalton, A, Morrison, P J, Dodge, A, Connarty, M, Kotze, M J, Rubinsztein, D C

“…Accurate clinical diagnosis of the spinocerebellar ataxias (SCAs) can be difficult because of overlap in phenotype with other disorders and variation in…”
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Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23‐week gestation fetus with atrioventricular septal defect by Cockwell, Annette E., Baker, Samantha J., Connarty, Margaret, Moore, Isabella E., Crolla, John A.

“…Trisomy 6 is seen in early miscarriages in association with an intact, empty amniotic sac or as a pseudomosaic in amniotic fluid cultures. We report the…”
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Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories by Schwarz, M J, Malone, G M, Haworth, A, Cheadle, J P, Meredith, A L, Gardner, A, Sawyer, I H, Connarty, M, Dennis, N, Seller, A

“…We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 22 laboratories in the United Kingdom. A total of 9,807 CF chromosomes have…”
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Phenotypic characterization of individuals with 30-40 CAG repeat in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats by RUBINSZTEIN, D. C, LEGGO, J, CURTIS, D, DAVIDSON, M. J, DIFFER, A.-M, DODE, C, DODGE, A, FRONTALI, M, RANEN, N. G, STINE, O. C, SHERR, J. C, ABBOTT, M. H, COLES, R, FRANZ, M. L, GRAHAM, C. A, HARPER, P. S, HEDREEN, J. C, JACKSON, A, KAPLAN, J.-C, LOSEKOOT, M, MACMILLAN, J. C, MORRISON, P, TROTTIER, Y, ALMQVIST, E, NOVELLETTO, A, SIMPSON, S. A, THEILMANN, J, WHITTAKER, J. L, FOLSTEIN, S. E, ROSS, C. A, HAYDEN, M. R, BIANCALANA, V, CASSIMAN, J.-J, CHOTAI, K, CONNARTY, M, CRAUFURD, D, CURTIS, A

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No Evidence for Segregation Distortion of Cystic Fibrosis Alleles among Sibs of Cystic Fibrosis Patients

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