Zobrazeno 1 - 10
of 59
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
Publikováno v:
Clinical Genetics. 27:408-410
A baby with holoprosencephaly and the tetralogy of Fallot is described. The mother had operative correction of the same cardiac lesion and shows features typical of the velo-cardio-facial syndrome, an autosomal dominant disorder. The association betw
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:
American Journal of Medical Genetics. 71:229-232
We report on a family with patent ductus arteriosus, a distinctive facial appearance with eyebrow flare, a short nose and “duck-bill lips,” polydactyly, and fifth finger clinodactyly. The facial traits were consistent with CHAR syndrome. We provi
Autor:
L Tranebjaerg, Maurice Super, Dian Donnai, Raoul C.M. Hennekam, Alex Magee, Bronwyn Kerr, Jill Clayton-Smith, J Steen-Johnsen, R F Mueller, Louise Brueton, Han G. Brunner
Publikováno v:
Clinical dysmorphology, 6(4), 291-302. Lippincott Williams and Wilkins
We describe nine children with a similar pattern of features including macrocephaly and cutis marmorata telangiectatica congenita. All were large at birth and had a distinctive capillary haemangioma involving the philtrum and upper lip. The seven who
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