Zobrazeno 1 - 10
of 18
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:
Maurice Super, Paula Stubbs, Katrina Prescott, Nigel P. Carter, Bronwyn Kerr, Rodger Palmer, Peter J. Scambler, Kathryn Woodfine
Publikováno v:
Human genetics. 116(1-2)
The 22q11 deletion syndrome (22q11DS) is a developmental syndrome comprising of heart, palate, thymus and parathyroid glands defects. Individuals with 22q11DS usually carry a 1.5- to 3-Mb heterozygous deletion on chromosome 22q11.2. However, there ar
Autor:
Graeme C.M. Black, Jill Clayton-Smith, Simon C Ramsden, Maurice Super, Pamela Watson, Bronwyn Kerr, Margaret Barrow
Publikováno v:
Journal of medical genetics. 38(4)
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. Eighty five percent of patients with AS have an identifiable genetic abnormali
Autor:
Oliver Quarrell, Martinus F. Niermeijer, Jane A. Hurst, Regina Regan, Sue Malcolm, Robin M. Winter, I D Young, Maurice Super, Susan M. White, Craig A. McKeown, Tessa Homfray, Alison H. Trainer, Jonathan Flint, B. B. A. De Vries, M. Splitt, Samantha J. L. Knight
Publikováno v:
Journal of Medical Genetics, 38, 3, pp. 145--50
Journal of Medical Genetics, 38, 145-150. BMJ Publishing Group
Journal of Medical Genetics, 38, 145--50
Journal of Medical Genetics, 38, 145-150. BMJ Publishing Group
Journal of Medical Genetics, 38, 145--50
BACKGROUND—Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental retardation and in 0.5% of children with mild retardation. Effective clinical preselection is essential because of the tech
Autor:
Dian Donnai, CL Wu, S Simon, Nalin Thakker, May Tassabehji, J Hudson, Maurice Super, EM Summers
Publikováno v:
Human mutation. 9(4)
Autor:
D. T. Pilz, Mary D. King, Z. Docherty, Maurice Super, S. McManus, J. L. Huret, S.J. Fennell, E. Boyd, A. J. Barnicoat, E. Shafei-Benaissa, John Tolmie, J. L. Bonneau, E. L. Maltby
Publikováno v:
Clinical genetics. 49(1)
We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplicati