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
Samuel-Ck WONG ; T.O.M. EKE ; Nikolas-G ZIAKAS ; Department of Ophthalmology. Leicester Royal Infirmary. Leicester. GBR |[BDSP. Notice produite par INIST LR0x1r7Y. Diffusion soumise à autorisation]. Looking at the sun can cause focal burns to the retina. We prospectively followed up all patients who presented to Eye Casualty of Leicester Royal Infirmary having obs[...]Article
Daniel YAROSH ; John HAWK ; Jonathan Klein ; Adrienne O'CONNOR ; Elyse RAFAL ; Peter WOLF ; Applied Genetics Incorporated Dermatics. Freeport. NY. USA ; Xeroderma Pigmentosum Study Group. INC |[BDSP. Notice produite par INIST R0x7oL34. Diffusion soumise à autorisation]. Background In patients with xeroderma pigmentosum the frequency of all forms of skin cancer is higher than in the general population, owing to a genetic defect in DNA [...]Article
D. Guidetti ; A. FERLINI ; R. SABADINI ; I. TORRENTE ; Neurological Department. Santa Maria Nuova Hospital. Reggio Emilia. ITA |[BDSP. Notice produite par INIST-CNRS R0xQTC1i. Diffusion soumise à autorisation]. Commencing with the work carried out during the epidemiological survey of amyotrophic lateral sclerosis in the period 1980-1992 and the pathology follow-up, we ca[...]Article
Gregory LIVSHITS ; Z.V.I. COHEN ; Orabi HIGLA ; Konstantin YAKOVENKO ; Department of Anatomy and Anthropology. Sackler Faculty of Medicine. Tel Aviv University. Tel Aviv. ISR ; Department of Traumatology and Orthopaedics "A". Ichilov Municipal Hospital. Tel Aviv. ISR |[BDSP. Notice produite par INIST-CNRS nxNR0x66. Diffusion soumise à autorisation]. The present study used computed tomography imaging to evaluate the extent and pattern of the intergenerational transmission of spinal disc degeneration disease (D[...]Article
[BDSP. Notice produite par INIST-CNRS R0xM7n2V. Diffusion soumise à autorisation]. In the context of improvements in both longevity and the quality of life for people with chronic disease, this paper takes as its sense of problem the differentia[...]Article
E.H. HANSON ; W. BURKE ; G. IMPERATORE |[BDSP. Notice produite par INIST-CNRS R0x6dbwn. Diffusion soumise à autorisation]. Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and deposition in the liver, pan[...]Article
[BDSP. Notice produite par INIST-CNRS MxaX3R0x. Diffusion soumise à autorisation]. Malgré les avancées majeures dans le domaine de la pathologie moléculaire et de la physiopathologie des hémoglobinopathies congénitales ainsi que dans la lutte co[...]Article
Karl ATKIN ; Waqar-Iu AHMAD ; Centre for Research in Primary Care. School of Medicine. University of Leeds Hallas Wing. Leeds. GBR |[BDSP. Notice produite par INIST-CNRS 5n8R0xp1. Diffusion soumise à autorisation]. This qualitative paper explores the strategies and resources young people use to cope with sickle cell disorder or thalassaemia major, two haemoglobin disorders w[...]Article
La génétique va révolutionner la médecine et il s'agit de se préparer à cette perspective inéluctable au bénéfice de tout un chacun. Mais la question se pose en d'autres termes : est-il fondé de vouloir imposer une telle médecine alors qu'il n'y[...]Article
Salmaan KESHAVJEE ; Arthur KLEINMAN ; Sheri Weiser ; Program in Infectious Discase and Social Change. Department of Social Medicine. Harvard Medical School. Boston. MA. USA |[BDSP. Notice produite par INIST-CNRS r4tdcR0x. Diffusion soumise à autorisation]. The contamination of blood products by HIV in the early 1980s resulted in thousands of deaths among people with hemophilia in the United States and elsewhere In t[...]Article
Mark ROEST ; Jan-Dirk BANGA ; Philip-G DE GROOT ; Diederick-E GROBBEE ; Jan-J SIXMA ; Mariëlle-J TEMPELMAN ; Yvonne-T VAN DER SCHOUW ; Department of Hematology. Utrecht University Medical School. Graduate School of Biomembranes. Utrecht. NLD ; Department of Internal Medicine. Utrecht University Medical School. Utrecht. NLD ; Julius Center for Patient Oriented Research. Utrecht University Medical School. Utrecht. NLD |[BDSP. Notice produite par INIST D8DR0x8Q. Diffusion soumise à autorisation]. Methylenetetrahydrofolate reductase (MTHFR) is involved in the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. A 677 C/T single nucleotide pol[...]Article
Bernadette MODELL ; Matthew DARLISON ; Maren KHAN ; Anita KING ; Mark LAYTON ; John OLD ; Mary PETROU ; Lysandros VARNAVIDES ; Department of Haematological Medicine. King's College Hospital. London. GBR ; Royal Free and University College London Medical School. Royal Free and University College Medical School. University College London. Department of Primary Care and Population Sciences. Whittington Campus. Highgate Hill. London. GBR |[BDSP. Notice produite par INIST-CNRS WR0x0VT9. Diffusion soumise à autorisation]. Objectif Montrer la valeur d'un registre national pour la surveillance des services concernant une affection héréditaire. Méthodes Les données de l'United Kingdom[...]Article
[BDSP. Notice produite par INIST-CNRS wux4OR0x. Diffusion soumise à autorisation]. Estimation of the genotype risk ratio can be an important part of studying the role of genetics in disease causation. For example, one might estimate risk among p[...]Article
Mark-W BECHER ; Claire BARTOLO ; David-G BEAR ; Joseph-M BICKNELL ; Larry-E DAVIS ; Molly-K KING ; Wusi-C MAKI ; Leslie MORRISON ; Brian-L REINERT ; Department of Neurology. University of New Mexico Health Sciences Center. Albuquerque. USA ; Department of Pathology. University of New Mexico Health Sciences Center. Albuquerque. USA ; New Mexico Va Health Care System. Albuquerque. USA |[BDSP. Notice produite par INIST-CNRS aFLJuR0x. Diffusion soumise à autorisation]. Context : Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy caused by polyalanine triplet repeat expansion in the gene for poly (A) binding protein 2 ([...]Article
Theodore-G LIOU ; Frederick-R ADLER ; Barbara-C CAHILL ; Stacey-C FITZSIMMONS ; Jonathan-R HIBBS ; Bruce-C MARSHALL ; Division of Respiratory. Critical Care and Occupational Pulmonary Medicine. Department of Internal Medicine. Health Sciences Center. University of Utah. Salt Lake City. UT. USA ; The Intermountain Cystic Fibrosis Center. University of Utah. Salt Lake City. UT. USA |[BDSP. Notice produite par INIST xER0xG79. Diffusion soumise à autorisation]. The objective of this study was to create a 5-year survivorship model to identify key clinical features of cystic fibrosis. Such a model could help researchers and cli[...]