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
Olga VACCARO ; CIRILLO (Massimo) : ITA. Nephrology. Second University. Naples Napoli. ; Vincenzo CUOMO ; LAURENZI (Martino) : ITA. Center of Epidemiological Research. Merck Sharp & Dohme. ; Mario MANCINI ; PANARELLI (Walter) : ITA. Gubbio Hospital. Gubbio. ; Gabriele RICCARDI ; TREVISAN (Maurizio) : USA. School of Public Health and Health Professions. University at Buffalo. Buffalo. NY. ; Federico 2 University of Naples. Department of Clinical and Experimental Medicine. Napoli. ITA ; Gubbio Study Research Group. INC |[BDSP. Notice produite par INIST-CNRS 2WcR0xsH. Diffusion soumise à autorisation]. Introduction : The association between type 2 diabetes and hypertension has long been described, but the mechanisms remain unclear. Na-Li countertransport (Na-Li [...]Article
Simone Benhamou ; Alain SARASIN ; Gustave-Roussy Institute. Unité Propre de Recherche 2169. Centre National de la Recherche Scientifique. Villejuif. FRA |[BDSP. Notice produite par INIST-CNRS Z7mmR0xs. Diffusion soumise à autorisation]. The xeroderma pigmentosum group D (XPD) protein is a well-characterized DNA helicase necessary for the nucleotide excision repair of bulky DNA lesions, such as th[...]Article
MITCHELL (Laura-E) : USA. Center for Environmental and Genetic Medicine. Institute of Biosciences and Technology. Texas A & M University System Health Sciences Center. Houston. TX. ; WEINBERG (Clarice-R) : USA. National Institute of Environmental Health Sciences. Research Triangle Park. NC. |[BDSP. Notice produite par INIST-CNRS 34wbR0xN. Diffusion soumise à autorisation]. Diseases that develop during gestation may be influenced by the genotype of the mother and the inherited genotype of the embryo/fetus. However, given the correlat[...]Article
[BDSP. Notice produite par INIST-CNRS knR0xyle. Diffusion soumise à autorisation]. People with rare, inherited chronic health conditions, such as hemophilia, face added physical, social, emotional, and fiscal challenges beyond those that are com[...]Article
C. GUTKNECHT ; F. BOUTITIE ; R. ECOCHARD ; J. IWAZ ; SAURIN (J.C.) : FRA. Department of Hematogastroenterology. Pierre Bénite. ; Hospices Civils de Lyon. Department of Biostatistics. Lyon. FRA |[BDSP. Notice produite par INIST-CNRS RnR0xBhV. Diffusion soumise à autorisation]. The objective was to design a method that considers, on clinical arguments, the likely existence of patient subgroups with different evolution profiles. The metho[...]Article
Matthew-B SCHABATH ; DELCLOS (George-L) : USA. Southwest Center for Occupational and Environmental Health. The University of Texas School of Public Health. Houston. TX. ; Anthony-J GREISINGER ; LU (Charles) : USA. Department of Thoracic. Head and Neck Medical Oncology. The University of Texas M D Anderson Cancer Center. Houston. TX. ; MARTYNOWICZ (Marek-M) : USA. St Luke's Lung Institute. Houston. TX. ; Margaret-R SPITZ ; . XIFENG WU ; Kelsey Research Foundation. Houston. TX. USA ; Kelsey-Seybold Clinic. Houston. TX. USA |[BDSP. Notice produite par INIST-CNRS iHhR0x7p. Diffusion soumise à autorisation]. The authors compared histories of nonmalignant respiratory diseases (asthma, bronchitis, emphysema, hay fever, and pneumonia) in 1,553 lung cancer patients and 1,[...]Article
INFANTE-RIVARD (Claire) : CAN. Department of Epidemiology. Biostatistics and Occupational Health. Faculty of Medicine. McGill University. Montréal. PQ. ; WEINBERG (Clarice-R) : USA. Biostatistics Branch. National Institute of Environmental Health Sciences. Research Triangle Park. NC. |[BDSP. Notice produite par INIST-CNRS R9R0xa1k. Diffusion soumise à autorisation]. Findings on the role of thrombophilic polymorphisms in adverse pregnancy outcomes, particularly intrauterine growth restriction, are inconsistent. Such inconsiste[...]Article
STARR (Jacqueline-R) : USA. Department of Pediatrics. School of Medicine. University of Washington. Seattle. WA. ; HSU (L.I.) : USA. Department of Biostatistics. School of Public Health and Community Medicine. University of Washington. Seattle. WA. ; Stephen-M SCHWARTZ |[BDSP. Notice produite par INIST-CNRS Q4tDR0xH. Diffusion soumise à autorisation]. Maternal genetic variation may serve as a biomarker in studies aimed at clarifying fetal determinants of infant or adult disease. The log-linear approach to case-[...]Article
Providing solutions-defining problems : the imperative of disease prevention in genetic counselling.
KOCH (Lene) : DNK. Department of Health Services Research. Institute of Public Health. University of Copenhagen. Copenhagen N. ; SVENDSEN (Mette-Nordahl) : DNK. Dsi. Danish Institute for Health Services Research. Copenhagen O. |[BDSP. Notice produite par INIST-CNRS kBR0xE4s. Diffusion soumise à autorisation]. Common sense states that problems make people look for solutions. This article proposes the contrary, i.e. that solutions provide the framework within which certa[...]Article
Fiona-Alice MILLER ; Catherine AHERN ; Mita GIACOMINI ; Jacqueline OGILVIE ; Lisa SCHWARTZ ; Mc Master University. Centre for Health Economics and Policy Analysis. CAN ; McMaster University. Department of Clinical Epidemiology and Biostatistics. CAN |[BDSP. Notice produite par INIST-CNRS 8uD6NR0x. Diffusion soumise à autorisation]. We report on a qualitative analysis of interviews with 14 genetic counsellors in Ontario, Canada about the implications of developments in molecular genetic knowl[...]Article
M.J.E. VAN RIJN ; SLOOTER (A.J.C.) : NLD. Departments of Intensive Care and Neurology. Academic Medical Center. Amsterdam. ; C.M. VAN DUIJN ; Erasmus Medical Center. Departments of Epidemiology & Biostatistics and Clinical Genetics. Genetic Epidemiology Unit. Rotterdam. NLD |[BDSP. Notice produite par INIST-CNRS ZpdcR0xX. Diffusion soumise à autorisation]. Objective : Wide applications for genetic testing in the clinical care of complex diseases have been discussed. However, it has never been quantified to what exte[...]Article
[BDSP. Notice produite par INIST-CNRS G7R0xGDW. Diffusion soumise à autorisation]. In the context of understanding motivations for clinical research participation, many authors consider issues such as informed consent and how patients perceive t[...]Article
[BDSP. Notice produite par APHPDOC fHR0x9aB. Diffusion soumise à autorisation]. Dans le cadre du colloque Innova Santé 2004, axé sur l'innovation médicale, un des thèmes abordé a été la "neurogénétique : de la migraine aux maladies musculaires".[...]Article
LAI (Hulchuan-J) : USA. Department of Nutritional Sciences. University of Wisconsin College of Agriculture and Life Sciences. Madison. WI. ; Philip-M FARRELL ; . HYUNGJUN CHO ; Michael-R KOSOROK ; . YU CHENG ; University of Wisconsin School of Medicine. Department of Biostatistics and Medical Informatics. Madison. WI. USA ; University of Wisconsin School of Medicine. Department of Pediatrics. Madison. WI. USA |[BDSP. Notice produite par INIST-CNRS tR0xo1yB. Diffusion soumise à autorisation]. This US study was conducted to determine whether mode of diagnosis and initial disease presentation influence lung disease and survival in patients with cystic fi[...]Article
Melissa-A AUSTIN ; Steve-E HUMPHRIES ; Carolyn-M HUTTER ; Ron-L ZIMMERN ; University of Washington. Institute for Public Health Genetics. Seattle. WA. USA |[BDSP. Notice produite par INIST-CNRS TcR0xIyG. Diffusion soumise à autorisation]. Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH[...]