Zobrazeno 1 - 10
of 211
pro vyhledávání: '"M, Silengo"'
Autor:
S. Halldorsson, Elliott H. Sherr, Susana Quijano-Roy, Gaetano Tortorella, Marc D'Hooghe, M. M. De Jong, J. Caldwell, Gian M. Ghiggeri, Josseline Kaplan, Christopher P. Bennett, S. Comu, Vincenzo Leuzzi, Anna Rajab, Mary Kay Koenig, Serap Teber, Barbara Scelsa, G. Marra, S. Kitsiou Tzeli, D. Petkovic, Alex E. Clark, Bruno Dallapiccola, P. Collignon, V. Sabolic Avramovska, Richard J. Leventer, Robert P. Cruse, Sabrina Signorini, Raoul C.M. Hennekam, Nicole I. Wolf, A. M. Laverda, Brunella Mancuso, Clotilde Lagier-Tourenne, Kathrin Ludwig, C. Moco, Ender Karaca, Amy Goldstein, Stefania Bigoni, L. I. Al Gazali, Laila Bastaki, Jean Messer, E. Del Giudice, M. Cazzagon, A. Permunian, C. Ae Kim, Edward Blair, M. Di Giacomo, E. DeMarco, Melissa Lees, Renato Borgatti, Marilena Briguglio, H. Raynes, Renaud Touraine, Andreas Zankl, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, S. Romano, Isabelle Perrault, Jane A. Hurst, Eamonn Sheridan, Kenton R. Holden, T. E. Gallager, P. De Lonlay, M. L. Di Sabato, Marina Michelson, Hülya Kayserili, Terry D. Sanger, Heike Philippi, Patrizia Accorsi, M. Silengo, Miriam Iannicelli, Lorena Travaglini, K. Dias, Gianluca Caridi, Loredana Boccone, J. Johannsdottir, R. De Vescovi, P. Ludvigsson, J. Hahn, Tania Attié-Bitach, Franco Stanzial, Silvia Battaglia, Francesco Brancati, Ghada M. H. Abdel-Salam, William B Dobyns, Enrico Bertini, Daria Riva, F. Benedicenti, Joseph G. Gleeson, Ryan D. Schubert, Roshan Koul, Kalpathy S. Krishnamoorthy, Luigina Spaccini, G. Uziel, Jean-Michel Rozet, M.A. Donati, Marzia Pollazzon, Sophie Audollent, Matloob Azam, Alex Magee, A. Adami, Ignacio Pascual-Castroviejo, Bernard Stuart, Rita Fischetto, Darryl C. De Vivo, Christopher A. Walsh, Asma A. Al-Tawari, Carla Uggetti, Alessandra Ferlini, Atıl Yüksel, Enza Maria Valente, Agnese Suppiej, Faustina Lalatta, Lucio Giordano, Maria Roberta Cilio, Bernard L. Maria, Trudy McKanna, S. Sigaudy, L. Demerleir, Carmelo Salpietro, Henry Sanchez, Bruria Ben-Zeev, A. Pessagno, Elisa Fazzi, J. Milisa, Shubha R. Phadke, D. Greco, Dominika Swistun, Yves Sznajer, B. Rodriguez, Silvana Briuglia, V. Udani, Francesca Faravelli, Maha S. Zaki, S. Bernes, Maria Teresa Divizia, C. Daugherty, David G. Brooks, Clara Barbot, László Sztriha, C. Donahue, Wendy K. Chung, Dean Sarco, Pierangela Castorina, Petter Strømme, Pasquale Parisi, Andreas R. Janecke, Roberta Battini, L. Martorell Sampol, M. Akcakus, Angela Barnicoat, Jerlyn C Tolentino, Dorit Lev, A. Seward, Banu Anlar, Corrado Romano, D. Nicholl, A. Moreira, Alice Abdel-Aleem, Padraic Grattan-Smith, C. G. Woods, Gustavo Maegawa, Alessandro Simonati, Kathryn J. Swoboda, David Viskochil, Luciana Rigoli, R. Van Coster, André Mégarbané
Publikováno v:
American Journal of Medical Genetics, Part A, 149(10), 2173-2180. Wiley-Liss Inc.
American journal of medical genetics. Part A, 149A(10), 2173-2180. Wiley-Liss Inc.
International JSRD Study Group 2009, ' Expanding CEP290 mutational spectrumin ciliopathies ', American Journal of Medical Genetics, Part A, vol. 149, no. 10, pp. 2173-2180 . https://doi.org/10.1002/ajmg.a.33025
American journal of medical genetics. Part A, 149A(10), 2173-2180. Wiley-Liss Inc.
International JSRD Study Group 2009, ' Expanding CEP290 mutational spectrumin ciliopathies ', American Journal of Medical Genetics, Part A, vol. 149, no. 10, pp. 2173-2180 . https://doi.org/10.1002/ajmg.a.33025
Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64afa39636eb3bd0d703cd79fea0af0
https://doi.org/10.1002/ajmg.a.33025
https://doi.org/10.1002/ajmg.a.33025
Publikováno v:
La Radiologia medica. 101(4)
The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::307c016c3b1532e95696fd215f0a2d1c
http://hdl.handle.net/2318/92761
http://hdl.handle.net/2318/92761
Autor:
A, Bolino, I, Schuffenecker, Y, Luo, M, Seri, M, Silengo, T, Tocco, G, Chabrier, C, Houdent, A, Murat, M, Schlumberger
RET is a receptor tyrosine kinase gene which is responsible for three different inherited cancer syndromes namely multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC) as well as for Hirschspr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a098167c8ac0865c73c4aad7492ddddd
http://hdl.handle.net/2318/93207
http://hdl.handle.net/2318/93207
Autor:
M. Silengo Cirillo, P. Dodero, Giuseppe Martucciello, Margherita Lerone, Maria Patrizia Bicocchi, Giovanni Romeo, Vincenzo Jasonni, Giorgio Gimelli, Aldamaria Puliti
Publikováno v:
Pediatric Surgery International. 7
We present the case of a patient with total colonic aganglionosis and small-bowel involvement (TCSA) associated with a 46, XX, del 10 (q11.21 q21.2) karyotype. Seromuscular biopsies were taken from the rectum, colon, cecum, and terminal ileum. The al
Publikováno v:
Clinical Genetics. 56:176-176
Autor:
N. PHILIP, P. MEINECKE, A. DAVID, J. DEAN, S. AYME, R. CLARK, E. GROSS-KIESELSTEIN, D. HOSENFELD, A. MONCLA, D. MULLER, M. PORTEOUS, H. SANTOS, I. CORDEIRO, A. SELICORNI, M. SILENGO, G. TARIVERDIAN
Publikováno v:
Clinical Dysmorphology. 1:63
Kabuki make-up (Niikawa-Kuroki) syndrome has been described mainly in Japanese patients. In this paper we report sixteen new cases from Europe and North America, suggesting that Kabuki make-up syndrome may be more common outside of Japan than suppose