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of 270
pro vyhledávání: '"Dode, C."'
Publikováno v:
In La Revue de médecine interne 2003 24(12):781-785
Publikováno v:
Indian Journal of Forensic Medicine & Toxicology; Oct-Dec2018, Vol. 12 Issue 4, p119-123, 5p
Publikováno v:
In Annales d'Endocrinologie September 2018 79(4):224-224
Publikováno v:
Medico-Legal Update; Jul-Dec2018, Vol. 18 Issue 2, p176-180, 5p
Akademický článek
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Autor:
Eskenazi, S., Bachelot, A., Hugon-Rodin, J., Catteau-Jonard, S., Molina-Gomes, D., Gompel, A., Dewailly, D., Christin-Maitre, S., Touraine, P., Dode, C.
Publikováno v:
In Annales d'Endocrinologie September 2017 78(4):228-228
Autor:
Albuisson, J, Pecheux, C, Carel, Jc, Lacombe, D, Leheup, B, Lapuzina, P, Bouchard, P, Legius, E, Matthijs, G, Wasniewska, Malgorzata Gabriela, Delpech, M, Young, J, Hardelin, Jp, Dode, C.
Publikováno v:
Human mutation. 25(1)
Kallmann syndrome (KAL) combines hypogonadotropic hypogonadism and anosmia. Hypogonadism is due to Gonadotropin Releasing Hormone (GnRH) deficiency and anosmia is related to hypoplasia of the olfactory bulbs. Occasional symptoms include renal agenesi
Autor:
Djoussé, L., Knowlton, B., Hayden, M., Almqvist, E. W., Brinkman, R., Ross, C., Margolis, R., Rosenblatt, A., Durr, A., Dode, C., Morrison, P. J., Andrea Novelletto, Frontali, M., Trent, R. J. A., Mccusker, E., Gómez-Tortosa, E., Mayo, D., Jones, R., Zanko, A., Nance, M., Abramson, R., Suchowersky, O., Paulsen, J., Harrison, M., Yang, Q., Cupples, L. A., Gusella, J. F., Macdonald, M. E., Myers, R. H.
Publikováno v:
Scopus-Elsevier
Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) o
Autor:
Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dode C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gomez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A
Publikováno v:
American journal of human genetics 73 (2003): 682–687.
info:cnr-pdr/source/autori:Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dode C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gomez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A/titolo:A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study./doi:/rivista:American journal of human genetics/anno:2003/pagina_da:682/pagina_a:687/intervallo_pagine:682–687/volume:73
info:cnr-pdr/source/autori:Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dode C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gomez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A/titolo:A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study./doi:/rivista:American journal of human genetics/anno:2003/pagina_da:682/pagina_a:687/intervallo_pagine:682–687/volume:73
Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::97930873a2ed0e249008e1cc4a2e4c5f
http://www.cnr.it/prodotto/i/4583
http://www.cnr.it/prodotto/i/4583
Autor:
Djoussé, L, Knowlton, B, Hayden, M, Almqvist, E, Brinkman, R, Ross, C, Margolis, R, Rosenblatt, A, Durr, A, Dode, C, Morrison, P, Novelletto, A, Frontali, M, Trent, R, Mccusker, E, Gòmez Tortosa, E, Mayo, D, Janes, R, Zanko, A, Nance, M, Abramson, R, Suchowersky, O, Paulsen, J, Harrison, M, Yang, Q, Cupples, L, Gusella, J, Macdonald, M, Myers, R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3667::6b6acea9119de26f5377a4e9cfcb474a
http://hdl.handle.net/2108/52627
http://hdl.handle.net/2108/52627