Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Maurice Super"'
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:
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
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
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