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 9EqlR0xs. Diffusion soumise à autorisation]. As populations age and chronic conditions become more prevalent, an individual's ability to choose the location of their end-of-life care and death is increasingl[...]Article
Laura-M KOEHLY ; ERSIG (Anne-L) : USA. College of Nursing. University of Iowa. Iowa City. ; Mark-H GREENE ; Lindsey-M HOSKINS ; KENEN (Regina) : USA. Department of Sociology and Anthropology at the College of New Jersey. Ewing. NJ. ; Natalia-R KUHN ; Jennifer-T LOUD ; June-A Peters ; Clinical Genetics Branch. Division of Cancer Epidemiology and Genetics. National Cancer Institute. National Institutes of Health. Department of Health and Human Services. Rockville. MD. USA ; Social and Behavioral Research Branch. National Human Genome Research Institute. National Institutes Health Department of Health and Human Services. Bethesda. MD. USA |[BDSP. Notice produite par INIST-CNRS 89nHCR0x. Diffusion soumise à autorisation]. Objectives. Given the importance of the dissemination of accurate family history to assess disease risk, we characterized the gatherers, disseminators, and blocke[...]Article
P.J. CASTALDI ; A.F. BARKER ; M.L. BRANTLY ; E.J. CAMPBELL ; D.L. DEMEO ; E. EDEN ; J.L. GRIFFITH ; D.M. KENT ; N.G. MCELVANEY ; S.I. RENNARD ; R.A. SANDHAUS ; E.K. SILVERMAN ; J.M. STOCKS ; J.K. STOLLER ; C. STRANGE ; G. TURINO ; Channing Laboratory and Division of Pulmonary and Critical Care Medicine. Brigham and Women's Hospital and Harvard Medical School. Boston. MA. USA ; Institute for Clinical Research and Health Policy Studies. Tufts Medical Center. Boston. MA. USA ; St Luke's. Roosevelt Hospital. New York City. NY. USA |[BDSP. Notice produite par INIST-CNRS IJR0xqFk. Diffusion soumise à autorisation]. Alpha-1-antitrypsin deficiency is a genetic condition associated with severe, early-onset chronic obstructive pulmonary disease (COPD). However, there is signific[...]Article
Muin-J KHOURY ; Jonine-L BERNSTEIN ; Lars BERTRAM ; Paolo BOFFETTA ; Paul-R BURTON ; Adam-S BUTTERWORTH ; Harry CAMPBELL ; Stephen-J CHANOCK ; Anand CHOCKALINGAM ; Siobhan-M DOLAN ; Isabel Fortier ; Helena FURBERG ; Montserrat GARCIA-CLOSAS ; Marta GWINN ; Julian-Pt HIGGINS ; John-Pa IOANNIDIS ; Acecile-Jw JANSSENS ; Julian LITTLE ; Thomas-R O'BRIEN ; James OSTELL ; Ryan-P OWEN ; Roberta-A PAGON ; Timothy-R REBBECK ; Nathaniel ROTHMAN ; Daniela SEMINARA ; Paolo VINEIS ; . WEI YU ; Deborah-M WINN ; Molecular Epidemiology Unit. University of Cambridge. Cambridge. GBR ; Office of Public Health Genomics. National Center for Chronic Disease Prevention and Health Promotion. Centers for Disease Control and Prevention. Atlanta. GA. USA |[BDSP. Notice produite par INIST-CNRS 8kmBtR0x. Diffusion soumise à autorisation]. Genome-wide association studies (GWAS) have led to a rapid increase in available data on common genetic variants and phenotypes and numerous discoveries of new lo[...]Article
Aren-Forrest KEENAN ; Lorna MCKEE ; Zosia MIEDZYBRODZKA ; Sheila-A SIMPSON ; VAN TEIJLINGEN (Edwin) : GBR. School of Health & Social Care. Bournemouth Universiry. ; Population Health. University of Aberdeen. Polwarth Building. Medical School Foresterhill. Aberdeen. GBR |[BDSP. Notice produite par INIST-CNRS E78JqR0x. Diffusion soumise à autorisation]. Family communication about adult-onset hereditary illness can be problematic, leaving some relatives inadequately informed or ignorant of their risk. Although stu[...]Article
Chin-Hao CHANG ; Gee-Chen CHANG ; Yuh-Min CHEN ; Chien-Jen CHEN ; Chin-Fu HSIAO ; Wan-Shan HSIEH ; Chao-A HSIUNG ; Ming-Shyan HUANG ; Wu-Chou SU ; Ying-Huang TSAI ; Pan-Chyr YANG ; Division of Biostatistics and Bioinformatics. Institute of Population Health Sciences. National Health Research Institutes. Zhunan. TWN |[BDSP. Notice produite par INIST-CNRS rslR0xED. Diffusion soumise à autorisation]. Human 8-oxoguanine DNA N-glycosylase 1 (hOGG1) plays an important role in repairing oxidative DNA damage induced by tobacco carcinogens. In this case-control stud[...]Article
Anne-E CUST ; Chantelle AGHA-HAMILTON ; Joanne-F AITKEN ; ARMSTRONG (Bruce-K) : AUS. School of Public Health. University of Sydney. Sydney. ; Megan FERGUSON ; GILES (Graham-G) : AUS. Cancer Epidemiology Centre. The Cancer Council Victoria. Melbourne. ; Elizabeth-A HOLLAND ; John-L HOPPER ; Mark-A JENKINS ; Jodie JETANN ; Richard-F KEFFORD ; KELLY (John) : AUS. Victorian Melanoma Service. Alfred Hospital. Melbourne. ; Graham-J MANN ; Judith-A MASKIELL ; Helen SCHMID ; Centre for Molecular Environmental Genetic and Analytic Epidemiology. School of Population Health. University of Melbourne. Melbourne. AUS ; Viertel Centre for Research in Cancer Control. Cancer Council Queensland. Spring Hill. Brisbane. AUS ; Westmead Institute for Cancer Research and Melanoma Institute of Australia. University of Sydney at Westmead Millennium Institute. Sydney. AUS |[BDSP. Notice produite par INIST-CNRS BR0x88lp. Diffusion soumise à autorisation]. Discovering and understanding genetic risk factors for melanoma and their interactions with phenotype, sun exposure, and other risk factors could lead to new stra[...]Article
Matthias RICHTER ; William BOYCE ; Michael ERHART ; Saoirse-Nic GABHAINN ; Carine-A VEREECKEN ; Alessio ZAMBON |[BDSP. Notice produite par INIST-CNRS ljR0xmrs. Diffusion soumise à autorisation]. Attempts to describe and explain socio-economic differences in health have mainly focused on adults. Little is known about the mechanisms of the relationship betw[...]Article
G. BRUNET ; S. DUPUIS-GIROD ; et al. ; E. GENIN ; G. LESCA |[BDSP. Notice produite par IRDES lGR0x8DF. Diffusion soumise à autorisation]. La maladie de Rendu-Osler est une génopathie héréditaire qui a fait l'objet de plusieurs études interdisciplinaires au fil des trois dernières décennies. Une enquête é[...]Ouvrage
Institut National de la Santé et de la Recherche Médicale (Inserm) (Paris, FRA) , 351p., 390p. pdf , 11/2008Les avancées scientifiques et techniques ont contribué au développement de nouveaux tests génétiques, en particulier des tests de susceptibilité aux maladies multifactorielles (hypertension, diab[...]
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Article
[BDSP. Notice produite par INIST-CNRS R0xtr8I8. Diffusion soumise à autorisation]. After being victims of a serious iatrogenous damage, what kind of relationship can patients rebuild with the world of medicine ? In this article, I examine this q[...]Article
Enrique RAMALLE-GOMARA ; ANDRES (Jesus) : ESP. Department of Paediatrics. Rio Carrion Hospital. Palencia. ; Maria-Angeles GONZALEZ ; Milagros PERUCHA ; POSADA (Manuel) : ESP. Iier-Instituto de Salud Carlos Iii and Ciber de Enfermedades Raras (Ciberer). Calle Sinesio Delgado. Madrid. ; Carmen QUINONES ; Department of Epidemiology. La Rioja Regional Authority. Logrono. ESP |[BDSP. Notice produite par INIST-CNRS lR0xFAq8. Diffusion soumise à autorisation]. This paper sought to analyse mortality trends among infants and young children who died with a diagnosis of cystic fibrosis (CF) in Spain, during the period 1981-[...]Article
Reinier TIMMAN ; Benno BONKE ; MAAT-KIEVIT (Anneke) : NLD. Department of Clinical Genetics. Erasmus University Medical Centre. Rotterdam. ; STIJNEN (Theo) : NLD. Department of Biostatistics. Leiden University Medical Centre. Leiden. ; Aad TIBBEN ; Department of Medical Psychology and Psychotherapy. Netherlands Institute of Health Sciences. Erasmus University Medical Centre. Rotterdam. NLD ; Department of Neurology. Leiden University Medical Centre. Leiden. NLD |[BDSP. Notice produite par INIST-CNRS qR0xGJp8. Diffusion soumise à autorisation]. The majority of individuals at risk for Huntington disease (HD) is afraid to learn more precisely about their genetic status, as is suggested by the low uptake of[...]Article
Thomas HJULER ; BIGGAR (Robert-J) : USA. Viral Epidemiology Branch. National Cancer Institute. Bethesda. MD. ; KALTOFT (Margit) : DNK. Department of Bacteriology. Mycology and Parasitology. Statens Serum Institut. Copenhagen. ; Mads MELBYE ; Gry POULSEN ; Jan WOHLFAHRT |[BDSP. Notice produite par INIST-CNRS 9srClR0x. Diffusion soumise à autorisation]. Severe infections may be influenced by genetic constitution. The authors examined familial aggregation of invasive infections, using invasive pneumococcal disease[...]Article
[BDSP. Notice produite par INIST-CNRS G8R0xG8H. Diffusion soumise à autorisation]. This paper explores how rapid growth in the USA of mandatory newborn screening (NBS) leading to a diagnosis of cystic fibrosis is changing, for affected families,[...]