The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews

Autor: Dagan, E., Schlesinger, I., Ayoub, M., Mory, A., Nassar, M., Kurolap, A., Peretz-Aharon, J., Gershoni-Baruch, R.

Publikováno v: In Parkinsonism and Related Disorders September 2015 21(9):1067-1071

The R72P P53 mutation is associated with familial breast cancer in Jewish women.

Autor: Ohayon, T.¹, Gershoni-Baruch, R.^2,3, Papa, M. Z.^4,5, Menachem, T. Distelman¹, Barzilai, S. Eisenberg¹, Friedman, E.^1,5 eitan211@netvision.net.il, Distelman Menachem, T (AUTHOR), Eisenberg Barzilai, S (AUTHOR)

Publikováno v: British Journal of Cancer. 3/28/2005, Vol. 92 Issue 6, p1144-1148. 5p.

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Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers

Autor: Kotsopoulos, J, Lubinski, J, Gronwald, J, Cybulski, C, Demsky, R, Neuhausen, Sl, Kim Sing, C, Tung, N, Friedman, S, Senter, L, Weitzel, J, Karlan, B, Moller, P, Sun, P, Narod, Sa, Hereditary Breast Cancer Clinical Study Group: Lynch HT, Singer, C, Eng, C, Mitchell, G, Huzarski, T, Mccuaig, J, Hughes, K, Mills, G, Ghadirian, P, Eisen, A, Gilchrist, D, Blum, Jl, Zakalik, D, Pal, T, Daly, M, Weber, B, Snyder, C, Fallen, T, Chudley, A, Lunn, J, Donenberg, T, Kurz, Rn, Saal, H, Garber, J, Rennert, G, Sweet, K, Gershoni Baruch, R, Rappaport, C, Lemire, E, Stoppa Lyonnet, D, Olopade, Oi, Merajver, S, Bordeleau, L, Cullinane, Ca, Friedman, E, Mckinnon, W, Wood, M, Rayson, D, Meschino, W, Mclennan, J, Costalas, Jw, Reilly, Re, Vadaparampil, S, Offit, K, Kauff, N, Klijn, J, Euhus, D, Kwong, A, Isaacs, C, Couch, F, Manoukian, S, Byrski, T, Elser, C, Panchal, S, Armel, S, Nanda, S, Metcalfe, K, Poll, A, Rosen, B, Foulkes, Wd, Rebbeck, T, Ainsworth, P, Robidoux, A, Warner, E, Maehle, L, Osborne, M, Evans, G, Pasini, Barbara, Ginsburg, O, Cohen, S, Bohdan, G, Jakubowska, A, Little, J.

It is not clear if early oral contraceptive use increases the risk of breast cancer among young women with a breast cancer susceptibility gene 1 (BRCA1) mutation. Given the benefit of oral contraceptives for the prevention of ovarian cancer, estimati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c812a4c0be0a70cb395d8b39a0ccce
http://hdl.handle.net/2318/144085

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Autor: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam GM, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P, Battaglia, S, Fazzi, E, Giordano, L, Pinelli, L, Boccone, L, Barone, R, Sorge, G, Briatore, E, Bigoni, S, Ferlini, A, Donati, Ma, Biancheri, R, Caridi, G, Divizia, Mt, Faravelli, F, Ghiggeri, G, Mirabelli, M, Pessagno, A, Rossi, A, Uliana, V, Amorini, M, Briguglio, M, Briuglia, S, Salpietro, Cd, Tortorella, G, Adami, A, Bonati, Mt, Castorina, P, D'Arrigo, S, Lalatta, F, Marra, G, Moroni, I, Pantaleoni, C, Riva, D, Scelsa, B, Spaccini, L, Del Giudice, E, Ludwig, K, Permunian, A, Suppiej, A, Macaluso, C, Pichiecchio, A, Battini, R, Di Giacomo, M, Priolo, M, Timpani, P, Pagani, G, Di Sabato ML, Emma, F, Leuzzi, V, Mancini, F, Majore, S, Micalizzi, A, Parisi, P, Romani, M, Stringini, G, Zanni, G, Ulgheri, L, Pollazzon, M, Renieri, Alessandra, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonati, A, Al Tawari AA, Bastaki, L, Mégarbané, A, Sabolic Avramovska, V, Said, E, Stromme, P, Koul, R, Rajab, A, Azam, M, Barbot, C, Salih, Ma, Tabarki, B, Jocic Jakubi, B, Martorell Sampol, L, Rodriguez, B, Pascual Castroviejo, I, Gener, B, Puschmann, A, Starck, L, Capone, A, Lemke, J, Fluss, J, Niedrist, D, Hennekam, Rc, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Kayserili, H, Yüksel, A, Akcakus, M, Caglayan, Ao, Aldemir, O, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Sheridan, E, Barnicoat, A, Hemingway, C, Lees, M, Wakeling, E, Blair, E, Bernes, S, Sanchez, H, Clark, Ae, Demarco, E, Donahue, C, Sherr, E, Hahn, J, Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh, Ca, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Karaca, E, Swoboda, Kj, Viskochil, D, Dobyns, Wb, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente

Publikováno v: European Journal of Human Genetics, 21(10), 1074-1078. Nature Publishing Group
European journal of human genetics, 21(10), 1074-1078. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Vol. 21, No 10 (2013) pp. 1074-8

Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain–hindbrain malformation known as the ‘molar tooth sign’. To date, 19 causative genes have been identified, all co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a63fdbfe2fca03377de88ab3a84b19
http://hdl.handle.net/11392/2387959