Zobrazeno 1 - 10
of 180
pro vyhledávání: '"S Distante"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Gut. 47:575-579
BACKGROUND—Previous studies have shown that up to 0.5% of the Caucasian population is homozygous for the HFE gene C282Y mutation. High prevalence values have been reported in Northern Europe. To what extent the presence of this mutation is associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418c30ddd3f8b9a8e50473755cb6963b
https://doi.org/10.1136/gut.47.4.575
https://doi.org/10.1136/gut.47.4.575
Publikováno v:
Burns. 23:634-637
Calcium bromide brine is a highly concentrated aqueous solution of calcium bromide and calcium chloride. It is used extensively in the oil industry. This solution and its components are recognized as causes of skin injury and information is available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d879a3caa4e3de16e9445d8b4a2a507
https://doi.org/10.1016/s0305-4179(97)00040-5
https://doi.org/10.1016/s0305-4179(97)00040-5
Autor:
Mary-Anne Young, S Distante, D J Cameron, R J Gardner, Susan M. Forrest, S Nasioulas, G R Somers
Publikováno v:
Journal of Medical Genetics. 33:157-160
A girl aged 5 years 8 months presented with rectal bleeding; her father had had familial adenomatous polyposis (FAP) and a colectomy at the age of 23. Endoscopy showed extensive polyposis and she had a colectomy. The proband and her father had the co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d10cc0bacc0eb4d9da7626ed6886f2
https://doi.org/10.1136/jmg.33.2.157
https://doi.org/10.1136/jmg.33.2.157
Publikováno v:
British Journal of Neurosurgery. 11:445-447
We describe a case of cranial fasciitis presenting as an incidental finding. A 2-year-old girl had skull radiographs performed after sustaining a minor head injury, which revealed a lytic skull lesion. We describe the salient features of the case and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7783b9412d481059a4cfb102f39498c0
https://doi.org/10.1080/02688699745989
https://doi.org/10.1080/02688699745989
Autor:
Pierre Brissot, J. Graham-Campbell, Antonio Arnaiz-Villena, S. Distante, K. J. H. Robson, Mark Worwood
Publikováno v:
Graham-Campbell, J, Distante, S, Robson, K J H, Arnaiz-Villena, A, Brissot, P & Worwood, M 2004, ' The origin and spread of the HFE-C282Y haemochromatosis mutation ', Human Genetics, no. 115, pp. 269-279 .
The mutation responsible for most cases of genetic haemochromatosis in Europe (HFE C282Y) appears to have been originated as a unique event on a chromosome carrying HLA-A3 and -B7. It is often described as a "Celtic mutation"--originating in a Celtic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::522bdc42611d6bbb642781f4026339f1
https://pure.au.dk/portal/da/publications/the-origin-and-spread-of-the-hfec282y-haemochromatosis-mutation(807f98c0-9837-11da-bee9-02004c4f4f50).html
https://pure.au.dk/portal/da/publications/the-origin-and-spread-of-the-hfec282y-haemochromatosis-mutation(807f98c0-9837-11da-bee9-02004c4f4f50).html
Autor:
Rolf Hultcrantz, Jens P. Berg, H Bell, Reidun Øvstebø, S Distante, M Elmberg, K. B. Foss Haug, Peter Kierulf
Publikováno v:
Scandinavian journal of gastroenterology. 38(8)
The majority of hemochromatosis patients are homozygous for the HFE-C282Y mutation. However, less than half of C282Y homozygous subjects identified by population screening studies actually develop the disease. The cytokine TNF-alpha is implicated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25bbf103267939c12302524eeb7ee96e
https://pubmed.ncbi.nlm.nih.gov/12940442
https://pubmed.ncbi.nlm.nih.gov/12940442
Publikováno v:
Liver. 22(3)
Previous studies have indicated that response to interferon therapy is inversely proportional to the amount of body iron stores. We have studied the relationship between serum ferritin, transferrin saturation, liver iron, presence of HFE-C282Y gene m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ed0cb913a35495a865c2c011db36357a
https://pubmed.ncbi.nlm.nih.gov/12100567
https://pubmed.ncbi.nlm.nih.gov/12100567