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:
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:
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
Autor:
Ayesha Irtiza-Ali, Joanna Hinks, T. Roberts, Maurice Super, Anthony M. Heagerty, Martin Schwarz, Stephen A Roberts, Michele Young, Alison Smith
Publikováno v:
Hypertension (Dallas, Tex. : 1979). 44(6)
Individuals homozygous for the autosomal recessive disorder CF are known to have low blood pressure, thought to be caused by greatly increased sweat salt loss. We examined whether carriers of the CF gene also have low blood pressure. Our pilot studie
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:
Maurice Super
Scientific advances and the passage of time are causing us to review what constitutes a diagnosis of cystic fibrosis (CF). Over and above those with a typical presentation and laboratory findings, there have always been patients who fall in the grey
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f25882415f421b0b6ce6ee10b5712ce3
https://europepmc.org/articles/PMC1745432/
https://europepmc.org/articles/PMC1745432/
Publikováno v:
Clinical science (London, England : 1979). 83(3)
An amplification of a highly unstable DNA element has been identified at the fragile X locus in Xq27.3. This sequence appears to be both the source of the primary mutation causing the fragile X syndrome, apparently having its causative effect through
Publikováno v:
Nature. 344(6262)
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