Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Maurice Super"'
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:
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:
Archives of Disease in Childhood. 80:463-465
Deficiency of 3beta-hydroxy-delta5-C27-steroid dehydrogenase (3beta-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice with the
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:
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:
Theda Voigtländer, David Viskochil, Hans Rudolf Wiedemann, Rosemarie Smith, John M. Opitz, Irene M. Van Langen, Nannette Okun, Michael Köpernik, Maurice Super, Axel Bohring, D. Ross McLeod, J. Stephen Bamforth, Raoul C.M. Hennekam, Peter Powell, John C. Carey, Olaf Rittinger, Norma Leonard, Stefan Mundlos, Hilda L. Gritter, Susan O. Lewin, Elaine H. Zackai, James F. Reynolds
Publikováno v:
American Journal of Medical Genetics, 87(2), 99-114. WILEY-LISS
American journal of medical genetics, 87(2), 99-114. Wiley-Liss Inc.
American journal of medical genetics, 87(2), 99-114. Wiley-Liss Inc.
We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malforma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::988943aea09fc404cf2b34b2f27ebed9
https://research.rug.nl/en/publications/ee07f048-4dba-4361-9d92-ec200e075f58
https://research.rug.nl/en/publications/ee07f048-4dba-4361-9d92-ec200e075f58
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/
Autor:
Maurice Super, Z. Popa, G. Hambleton, Andrea Haworth, Martin Schwarz, I. Popa, Geraldine Malone, Liviu Pop
Publikováno v:
European journal of pediatrics. 156(3)
We have investigated the genotype in 32 children with cystic fibrosis from Romania. The diagnosis of cystic fibrosis was made on the basis of typical clinical findings and sweat electrolyte levels using the pilocarpine iontophoresis method.Genetic an