Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kay Macdermot"'
Autor:
Robert J. Desnick, Sue Malcolm, Jane A. Hill, Kay MacDermot, Bryan Winchester, Joanna P. Davies, Christine M. Eng
Publikováno v:
European Journal of Human Genetics. 4:219-224
The nature of the molecular lesions in the alpha-galactosidase A gene causing Fabry disease in 12 unrelated families from the United Kingdom and 4 from other European countries was determined in order to provide precise heterozygote detection and pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e6434e5721865ffd4e3bf96f74635d
https://doi.org/10.1159/000472202
https://doi.org/10.1159/000472202
Autor:
Odile Boute, Marlène Rio, Pierre Vabres, Jerôme Franques, Didier Bessis, Nadège Gigot, Muriel Holder-Espinasse, B. Catteau, Alice Goldenberg, Christel Thauvin-Robinet, Juliette Piard, Laurence Faivre, Bernard Aral, Lucie Gueneau, Eve Puzenat, Frédéric Huet, Annick Toutain, Kay MacDermot, Patrick Callier, Marc Tardieu
Publikováno v:
European journal of medical genetics. 55(1)
Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Differential diagnoses include Dyskeratosis Congenita (DC) with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d6e5151e4920e777556f8f5742e41e
https://pubmed.ncbi.nlm.nih.gov/21872685
https://pubmed.ncbi.nlm.nih.gov/21872685
Autor:
June Cameron, Louise Izatt, Shirley Hodgson, Shehla Mohammed, Chris Jacobs, David Ellis, Chris Perrett, Christopher G. Mathew, Sally Watts, Gareth Evans, Sam McCALL, Wendy Chorley, Gillian Scott, F Lalloo, Kay Macdermot, Jill Greenman
Publikováno v:
Journal of medical genetics. 37(10)
Editor—Germline mutations in the BRCA1 and BRCA2 genes cause predisposition to breast and ovarian cancer.1Epidemiological evidence and linkage studies suggested that the likelihood that a woman with breast cancer has a genetic susceptibility to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7bd78922832ff7f82be619a218bb1bf
https://pubmed.ncbi.nlm.nih.gov/11183185
https://pubmed.ncbi.nlm.nih.gov/11183185
Autor:
Wendy Chorley, Kay Macdermot
Publikováno v:
BMJ. 314:441-441
Editor–Mutations in the recently identified BRCA1, BRCA2, MLH1, and MSH2 genes are associated with high risk of developing common cancers–namely, of the breast, ovary, and colorectum.1 2 As the general public is already informed in the popular pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::136cfa18ee83c260fd6248af31b0ae87
https://doi.org/10.1136/bmj.314.7078.441
https://doi.org/10.1136/bmj.314.7078.441
Publikováno v:
Pediatric Nephrology. 1:536-539
Anderson-Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency. In affected males there is a high mortality in early adult life due to renal failure and cardiovascular complications. We describe our prelimina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2011b38fc730a91021cc2a6de4b67f52
https://doi.org/10.1007/bf00849266
https://doi.org/10.1007/bf00849266
Publikováno v:
Biochemical and Biophysical Research Communications. 89:504-511
Glutathione synthetase deficiency results in decreased cellular glutathione content and consequent overproduction of 5-oxoproline. L-serine in borate buffer inhibits γ-glutamyl transpeptidase, the major catabolic enzyme for glutathione. Treatment of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4879a33f5d8188aa91af61bc69a7eb
https://doi.org/10.1016/0006-291x(79)90658-2
https://doi.org/10.1016/0006-291x(79)90658-2