LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity

Autor: Saillour, Yoann, Carion, Nathalie, Quelin, Chloe, Leger, Pierre-Louis, Boddaert, Nathalie, Elie, Caroline, Toutain, Annick, Mercier, Sandra, Barthez, Marie Anne, Milh, Mathieu, Joriot, Sylvie, Des Portes, Vincent, Philip, Nicole, Broglin, Dominique, ROUBERTIE, Agathe, Pitelet, Gaëlle, Moutard, Marie Laure, Pinard, Jean-Marc, Cancès, Clément, Cances, Claude, Kaminska, Anna, Chelly, Jamel, Beldjord, Chérif, Bahi-Buisson, Nadia

Publikováno v: Archives of Neurology-Chigago
Archives of Neurology-Chigago-, American Medical Association, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Archives of Neurology-Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Archives of Neurology-Chigago-, American Medical Association, 2009, 66 (8), pp.1007-1015. 〈10.1001/archneurol.2009.149〉

International audience; Objective: With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deletion, described so far, we aimed to r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30dbfc2c546e7bff1becf40bb91731cf
https://hal.archives-ouvertes.fr/hal-01104698/file/noc80134_1007_1015.pdf

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An unusual case of neurocutaneous melanosis

Autor: Andrade, Daniela Oliveira, Dravet, Charlotte, Raybaud, Charles, Broglin, Dominique, Laguitton, Virginie, Girard, Nadine

Publikováno v: Epileptic Disorders; September 2004, Vol. 6 Issue: 3 p145-152, 8p

LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.

Autor: Saillour Y; Conseil National de la Recherche Scientifique, Université Paris Descartes (Unités Mixtes de Recherche 8104) and Institut National de la Santé et de la Recherche Médicale (INSERM) U567, Paris, France., Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N

Publikováno v: Archives of neurology [Arch Neurol] 2009 Aug; Vol. 66 (8), pp. 1007-15.