Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Maurice Super"'
Autor:
Michele Ramsay, Robert Williamson, Xavier Estivill, Brandon J. Wainwright, Meng-Falt Ho, Stephanie Halford, Juha Kere, Erkki Savilahti, Albert de la Chapelle, Marianne Schwartz, Martin Schwartz, Maurice Super, Peter Farndon, Carol Hardlng, Linda Meredith, Layla Al-Jader, Claude Ferec, Mirellle Claustres, Teresa Casals, Virginia Nunes, Paolo Gasparini, Anna Savoia, Pier Franco Pignatti, Giuseppe Novelli, Massimo Bennarelli, Bruno Dallapiccola, Luba Kalaydjieva, Peter J. Scambler
Publikováno v:
Scopus-Elsevier
Positional cloning involves first finding linkage between an inherited phenotype (such as a disease) and a DNA marker, followed by the use of a variety of physical and genetic mapping techniques to move from linkage to mutation. If there is a founder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db222f8243eb4dd163961fc1392f93d
https://ora.ox.ac.uk/objects/uuid:18ed8428-cbf7-41b9-bfda-cd94313251ad
https://ora.ox.ac.uk/objects/uuid:18ed8428-cbf7-41b9-bfda-cd94313251ad
Autor:
Maurice Super, DirkJ. van Schalkwyk
Publikováno v:
Clinical Genetics. 16:65-68
Tests to demonstrate a preference by mosquitoes for stinging controls as opposed to obligate heterozygotes for Cystic Fibrosis proved negative. If a heterozygote advantage caused a lower malarial incidence in carriers in South West Africa, it must ha
Autor:
John Painter, Geraldine Malone, Andrea Howarth, Joan Braganza, Nicholas H. Sharer, Martin Schwarz, Maurice Super
Publikováno v:
New England Journal of Medicine. 339:645-652
The pancreatic lesions of cystic fibrosis develop in utero and closely resemble those of chronic pancreatitis. Therefore, we hypothesized that mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may be more common than ex
Publikováno v:
Human Mutation. 11:152-157
We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, an
Autor:
Maurice Super, Martin Schwarz
Publikováno v:
European Journal of Pediatrics. 151:108-111
A large group of patients with cystic fibrosis (CF) from the Northwest of England were analysed for mutations within the CF gene. Eleven separate mutations were identified comprising 91.5% of the responsible genes. Molecular confirmation of a CF diag
Autor:
Clive R. Newton, Lesley Heptinstall, Claire Summers, Martin Schwarz, Alexander F. Markham, Maurice Super
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781468459364
During the development of an amplification refractory mutation system (ARMS)1 assay for the detection of the DeltaF508 mutation2,3,4 and corresponding normal locus in cystic fibrosis we discovered a family in which a further variant of the sequence e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3f350bd33d0bf951a70551cf5e2e8b4
https://doi.org/10.1007/978-1-4684-5934-0_48
https://doi.org/10.1007/978-1-4684-5934-0_48
Autor:
Maurice Super, Andrew P Read, RJ Harris, R G Elles, Martin Schwarz, A. J. Ivinson, J. Clayton Smith
Publikováno v:
Journal of Medical Genetics. 26:426-430
A particular haplotype defined by probes XV2c, KM19, and CS.7 at the D7S23 locus was found on 90% of chromosomes which carry cystic fibrosis (CF), but on only 11% of normal chromosomes in a UK sample of CF carriers. We show how such data can be used
Autor:
Joerg Schmidtke, Maurice Super, Dicky J. J. Halley, M. Schwartz, Dimitris Loukopoulos, Marcella Devoto, J. E. Poncin, Martin Farrall, Charles H.C.M. Buys, Michael Krawczak
Publikováno v:
Prenatal Diagnosis, 8(8), 619-624. Wiley-Blackwell
This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical gene
Autor:
C.R. Newton, J.C. Smith, L.E. Heptinstall, Alexander F. Markham, Maurice Super, Martin Schwarz, A. Graham, C Summers, R. Anwar
Publikováno v:
Lancet (London, England). 2(8678-8679)
The amplification refractory mutation system (ARMS) has been applied to prenatal diagnosis and carrier detection of cystic fibrosis. The nucleotide sequence of both alleles of the PstI restriction fragment length polymorphism at the KM19 locus, which
Publikováno v:
Scopus-Elsevier
Three independent observers assessed the discriminating power of serum isoelectric focusing in detecting the presence of the cystic fibrosis gene. On the basis of average scores, four out of 23 cystic fibrosis patients, six out of 22 heterozygotes, a