Mots-clés
BDSP5 Thésaurus > Pathologie > Maladie héréditaire
Maladie héréditaireSynonyme(s)Maladie de Refsum ;Maladie de Usher Maladie Lysosomale |
Documents disponibles dans cette catégorie (212)
Article
[BDSP. Notice produite par INIST-CNRS 8R0x78s9. Diffusion soumise à autorisation]. This paper explores the notion of genetic responsibility, i.e. the responsibility to know and manage one's own genome for oneself and the sake of others, focusing[...]Article
KAZMA (Remi) : FRA. Faculté de Medecine. Paris. ; Marie-Claude BABRON ; Emmanuelle GENIN ; Institut Universitaire d'Hématologie. Universite Paris Diderot. Paris. FRA ; U946 Variabilite Genetique et Maladie Humaine. Institut National de la Sante et de la Recherche Medicale. Paris. FRA |[BDSP. Notice produite par INIST-CNRS 99B88R0x. Diffusion soumise à autorisation]. The use of a reference control panel in genome-wide association studies is an interesting solution to the problem of how to reduce costs. In such designs, data on[...]Article
[BDSP. Notice produite par INIST-CNRS R0xmAIHl. Diffusion soumise à autorisation]. In western countries the rise of genetic testing has been accompanied by ethical arrangements like autonomy and informed consent that help to dissociate genetics [...]Article
Kathryn HUGHES BARRY ; BOYLE (Peter) : FRA. International Prevention Research Institute. Lyon. ; Stephen CHANOCK ; Shelia HOAR ZAHM ; Theodore-R HOLFORD ; Hdean-Iii HOSGOOD ; Brian LEADERER ; . QING LAN ; Nathaniel ROTHMAN ; . TONGZHANG ZHENG ; . YAWEI ZHANG ; Meredith YEAGER ; Core Genotyping Facility. National Cancer Institute-Frederick. Saic-Frederick. Inc. Frederick. MD. USA |[BDSP. Notice produite par INIST-CNRS mI8R0x8D. Diffusion soumise à autorisation]. Using 1996-2000 data among Connecticut women, the authors evaluated whether genetic variation in 4 metabolic genes modifies organic solvent associations with non-[...]Article
[BDSP. Notice produite par INIST-CNRS 9H9FR0xs. Diffusion soumise à autorisation]. This paper aims to explore the management of a rare chromosome disorder, Prader-Willi syndrome (PWS), within families. It is particularly concerned with developin[...]Article
[BDSP. Notice produite par INIST-CNRS sI9nR0xq. Diffusion soumise à autorisation]. This article is concerned with understanding moral aspects of everyday life in families with Huntington's Disease (HD). It draws on findings from an empirical res[...]Article
HALPIN (Michael) : USA. University of Wisconsin-Madison. Department of Sociology. Madison. WI. ; JUTEL (Annemarie) / éd. : NZL. Victoria University of Wellington. ; NETTLETON (Sarah) / éd. : GBR. University of York. |[BDSP. Notice produite par INIST-CNRS qJ7R0xAr. Diffusion soumise à autorisation]. Although Huntington Disease (HD) is recognized as a neurological condition, it has a number of psychiatric effects, with recent studies suggesting that these effe[...]Article
CLARKE (Angus) : GBR. Institute of Medical Genetics. School of Medicine. Cardiff University. Cardiff Wales. ; SARANGI (Srikant) : GBR. Health Communication Research Centre. Encap. Cardiff University. Cardiff Wales. ; VERRIER-JONES (Kate) : GBR. Department of Child Health. School of Medicine. Cardiff University. Cardiff Wales. |[BDSP. Notice produite par INIST-CNRS pR0xlIIJ. Diffusion soumise à autorisation]. When parents, who are carriers of or are affected by a genetic disorder, make decisions about the health risks faced by their children, there may be multiple fact[...]Article
ARORA (Manish) : AUS. Cellular and Molecular Pathology Research Unit. Department of Oral Pathology and Oral Medicine. University of Sydney. Sydney New South Wales. ; Katja FALL ; Lorelei-A Mucci ; Nancy-L PEDERSEN ; WEUVE (Jennifer) : USA. Rush Institute for Healthy Aging. Rush University Medical Center. Chicago. IL. ; Environmental and Occupational Medicine and Epidemiology Program. Harvard School of Public Health. Boston. MA. USA |[BDSP. Notice produite par INIST-CNRS 98R0xJmJ. Diffusion soumise à autorisation]. Biologic mechanisms underlying associations of periodontal disease with cancers remain unknown. The authors propose that both conditions share common genetic risk[...]Article
Sophie CHAULET ; Cédric Annweiler ; Anne-Sophie CHOCARD ; Jean-Bernard GARRE ; Bénédicte GOHIER ; Stéphane Richard-Devantoy ; Christophe VERNY |[BDSP. Notice produite par CTNERHI I7DR0x88. Diffusion soumise à autorisation]. La maladie de Huntington est une maladie neurodégénérative héréditaire à transmission autosomique dominante qui survient à l'âge adulte. Les sujets présentant une ma[...]Article
Simon-Martin DYSON ; Karl ATKIN ; Lorraine-A CULLEY ; Sue-E DYSON ; Hala EVANS ; Dave-T ROWLEY ; De Montfort University. Leicester. Uk University of York. York. GBR |[BDSP. Notice produite par INIST-CNRS G8qH8R0x. Diffusion soumise à autorisation]. Sickle cell is a leading genetic condition, both globally and in England. Little research has been conducted into the experiences of young people with sickle cell[...]Article
Genetic unexceptionalism : Clinician accounts of genetic testing for familial hypercholesterolaemia.
WILL (Catherine-M) : GBR. Department of Sociology. Friston Building. University of Sussex. Falmer Brighton. ; ARMSTRONG (David) : GBR. Division of Health and Social Care Research. King's College London. London. ; MARTEAU (Theresa-M) : GBR. Department of Psychology (at Guy's). Health Psychology Section. Kings College London. London. |[BDSP. Notice produite par INIST-CNRS R0xIICr8. Diffusion soumise à autorisation]. This paper considers the implications of genetic testing in the case of familial hypercholesterolaemia, drawing on twenty semi-structured interviews with general [...]Article
Raluca MIHAESCU ; Albert HOFMAN ; Acecile-Jw JANSSENS ; MYRIAM HUNINK (M.G.) : NLD. Department of Radiology. Erasmus Mc. University Medical Center. Rotterdam. ; Eric-Jg SIJBRANDS ; André-G UITTERLINDEN ; Cornelia-M VAN DUIJN ; Mandy VAN HOEK ; Moniek VAN ZITTEREN ; Jacqueline-Cm WITTEMAN ; Department of Epidemiology. Erasmus Mc. University Medical Center. Rotterdam. NLD ; Department of Internal Medicine. Erasmus Mc. University Medical Center. Rotterdam. NLD ; Netherlands Consortium of Healthy Aging. Rotterdam. NLD |[BDSP. Notice produite par INIST-CNRS R0xDp8Do. Diffusion soumise à autorisation]. Reclassification is observed even when there is no or minimal improvement in the area under the receiver operating characteristic curve (AUC), and it is unclear w[...]Article
JUN LI (.) : USA. Division of Cancer Prevention and Control. National Center for Chronic Disease Prevention and Health Promotion. Centers for Disease Control and Prevention. Atlanta. GA. ; Ralph-J COATES ; Marta GWINN ; Muin-J KHOURY |[BDSP. Notice produite par INIST-CNRS 9qokR0xG. Diffusion soumise à autorisation]. Steroid 5-alpha-reductase type 2 (SRD5a2) is a critical enzyme in androgen metabolism. Two polymorphisms in the SRD5a2 gene, V89L (rs523349) and A49T (rs9282858),[...]Article
Les auteurs présentent les modalités d'accompagnement des personnes demandeuses d'un test génétique présymptomatique et pointent les enjeux d'un tel test, tant pour la personne elle-même que pour sa famille.