Zobrazeno 1 - 5
of 5
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:
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:
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:
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
Autor:
Nicholas M Sharer, Maurice Super, Neil Shiel, Joan M. Braganza, Gary Hambleton, Mukesh Summan, Martin Jones
Publikováno v:
Biochemical Society transactions. 21(4)