Zobrazeno 1 - 10
of 83
pro vyhledávání: '"A.-M. Jouanolle"'
Hemochromatosis (HC) is a systemic iron overload disease of genetic origin. Its usual form, HFE -related HC, is one the most prevalent genetic diseases in the Caucasian population, but with partial penetrance. Genetic testing to demonstrate homozygos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7567e903286431dd3f56bd1c1c5a4463
https://doi.org/10.1016/b978-0-12-800886-7.00020-0
https://doi.org/10.1016/b978-0-12-800886-7.00020-0
Autor:
Olivier Loréal, Edouard Bardou-Jacquet, Marianne Latournerie, L Bridoux-Henno, A.-M. Jouanolle, Pierre Brissot
Publikováno v:
EMC - Pediatría. 48:1-9
Las enfermedades por sobrecarga de hierro en los ninos abarcan un amplio abanico de enfermedades geneticas y adquiridas. La identificacion de las causas geneticas ha sido relativamente reciente, a raiz del descubrimiento del gen HFE. Se ha observado
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6abfa023e151f0b2780383b307db61ae
https://doi.org/10.1016/s1245-1789(13)64496-0
https://doi.org/10.1016/s1245-1789(13)64496-0
Publikováno v:
EMC - Pédiatrie - Maladies infectieuses. 8:1-8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8eb74d55908d0493ea0ffc018e035751
https://doi.org/10.1016/s1637-5017(12)61600-7
https://doi.org/10.1016/s1637-5017(12)61600-7
Autor:
J.J. Pointon, Véronique David, Alison T. Merryweather-Clarke, M L Bassett, Jacques Rochette, K. J. H. Robson, Mark Worwood, Joanna Poulton, A Mosser, Estelle Cadet, V L C Wimhurst, K J Livesey, Andrew G. Roberts, Kymberley Carter, A-M Jouanolle
Publikováno v:
Journal of Medical Genetics. 41:6-10
Background: Patients with hereditary haemochromatosis (HH) are usually homozygous for the C282Y mutation in the HFE gene. They have variable expression of iron overload and present with a variety of complications, including liver disease, diabetes, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::017bd96c25fdc5a16414d9c47ffebbae
https://doi.org/10.1136/jmg.2003.008805
https://doi.org/10.1136/jmg.2003.008805
Publikováno v:
La Revue de medecine interne. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5e1793ce44205448a6014879e3920d68
https://pubmed.ncbi.nlm.nih.gov/22520176
https://pubmed.ncbi.nlm.nih.gov/22520176
Publikováno v:
La Revue de medecine interne. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::caea4f73cb99ff27ae6c89a9594a71f4
https://pubmed.ncbi.nlm.nih.gov/22503238
https://pubmed.ncbi.nlm.nih.gov/22503238
Autor:
P, Brissot, E, Bardou-Jacquet, M, Latournerie, M, Ropert-Bouchet, M L, Island, O, Loréal, A-M, Jouanolle
Publikováno v:
Pathologie-biologie. 58(5)
The field of hereditary iron overload has known, in the recent period, deep changes mainly related to major advances in molecular biology. It encompasses now a series of genetic entities. The mechanistic understanding of iron overload development and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::24ffc3020d13e8ffe699c267320c715e
https://pubmed.ncbi.nlm.nih.gov/19942367
https://pubmed.ncbi.nlm.nih.gov/19942367
Publikováno v:
Diabetesmetabolism. 28(4 Pt 1)
Serum paraoxonase (PON) activity and the relevance of PON gene polymorphism in vascular complications of type 2 diabetic patients were investigated in a case-control study.The population included 105 control subjects, 96 diabetic patients without vas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a1d0913d67c481c87de29f2d67973d11
https://pubmed.ncbi.nlm.nih.gov/12442067
https://pubmed.ncbi.nlm.nih.gov/12442067
Publikováno v:
Journal of hepatology. 33(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7baec564e57c4581a841a500d5a8ea96
https://pubmed.ncbi.nlm.nih.gov/11020014
https://pubmed.ncbi.nlm.nih.gov/11020014
Publikováno v:
Annales d'endocrinologie. 60(3)
Hemochromatosis is a recessive disorder of iron metabolism characterized by progressive iron loading of parenchymal organs, which accounts for clinical complications such as cirrhosis, diabetes mellitus, cardiopathy, endocrine dysfunctions and arthro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::55d9a4e37ba5b43a101203396aad880c
https://pubmed.ncbi.nlm.nih.gov/10520411
https://pubmed.ncbi.nlm.nih.gov/10520411