Zobrazeno 1 - 10
of 32
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
Publikováno v:
Paediatric Respiratory Reviews. 4:293-298
It is good medical practice to offer carrier tests and counselling to the relatives of those affected by recessive disorders. Many are concerned about their own chances of having affected offspring. Cystic fibrosis carrier tests have been feasible si
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
Autor:
Janice Abbott, Maurice Super
Publikováno v:
Disability and Rehabilitation. 20:202-208
Since the identification of the cystic fibrosis (CF) gene in 1989 there have been considerable advances in treatment and fierce debate concerning CF screening programmes. Cystic fibrosis imposes a burden of suffering, of onerous treatment and of redu
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
Publikováno v:
BMJ. 308:1462-1467
Objective : To examine the acceptability, practicability, efficiency, and application of active screening for carriers of the cystic fibrosis gene in the extended families of those in whom the disease is present (cascade screening). Design : Paediatr
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:
Maurice Super
Publikováno v:
The Lancet. 355:1840-1842
Publikováno v:
Paediatric respiratory reviews. 4(4)
It is good medical practice to offer carrier tests and counselling to the relatives of those affected by recessive disorders. Many are concerned about their own chances of having affected offspring. Cystic fibrosis carrier tests have been feasible si