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794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome

Autor: Vabres, P., Sorlin, A., Kholmanskikh, S., Duffourd, Y., Kuentz, P., Carmignac, V., Bessis, D., Dobyns, W., Polubothu, S., Faravelli, F., Kinsler, V., Faivre, L., Ross, M., Rivière, J.

Publikováno v: In Journal of Investigative Dermatology May 2018 138(5) Supplement:S135-S135

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Autor: Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, Eleonora, Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R., Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, Roberta, Cilio, M. R., DI SABATO, Manuela, Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Mckanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J.

Publikováno v: American journal of human genetics, 81(1), 104-113. Cell Press

Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f20692bf53f4682fff08adc771e37911
http://hdl.handle.net/11562/338013

Periventricular Nodular Heterotopia with Overlying Polymicrogyria Occurs in Several Distinct Patterns of Malformation: Clinical and Imaging Features

Autor: Wieck, G., Leventer, R. J., Squier, W. M., Ramazzotti, A., Anna Jansen, Andermann, E., Dubeau, F., Guerrini, R., Dobyns, W. B.

Publikováno v: ResearcherID
Anna Jansen

OBJECTIVE: Polymicrogyria (PMG) and periventricular nodular heterotopia (PNH) are two developmental brain malformations that have been described independently in multiple syndromes. Clinically, they present with epilepsy and developmental handicaps i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0733abf86191cc14906b35854bcfa309
https://biblio.vub.ac.be/vubir/periventricular-nodular-heterotopia-with-overlying-polymicrogyria-occurs-in-several-distinct-patterns-of-malformation-clinical-and-imaging-features(cff27c92-ce76-41d0-9695-9487b08987b0).html