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CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome

2009; Wiley; Volume: 77; Issue: 1 Linguagem: Inglês

10.1111/j.1399-0004.2009.01286.x

1399-0004

Carlos Córdova‐Fletes, Nils Rademacher, Ines Müller, JN Mundo‐Ayala, EA Morales‐Jeanhs, JE García‐Ortiz, Alfredo León-Gil, Horacio Rivera, MG Domínguez, Vera M. Kalscheuer,

Chromatin Remodeling and Cancer

Clinical GeneticsVolume 77, Issue 1 p. 92-96 CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome C Córdova-Fletes, C Córdova-Fletes División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, MéxicoSearch for more papers by this authorN Rademacher, N Rademacher Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, D-14195 Berlin, GermanySearch for more papers by this authorI Müller, I Müller Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, D-14195 Berlin, GermanySearch for more papers by this authorJN Mundo-Ayala, JN Mundo-Ayala División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, MéxicoSearch for more papers by this authorEA Morales-Jeanhs, EA Morales-Jeanhs División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, MéxicoSearch for more papers by this authorJE García-Ortiz, JE García-Ortiz División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, MéxicoSearch for more papers by this authorA León-Gil, A León-Gil Departamento de Neurología y Neurocirugía Pediátrica, UMAE Hospital de Pediatría, CMNO-IMSS, 44340 Guadalajara, MéxicoSearch for more papers by this authorH Rivera, H Rivera División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, MéxicoSearch for more papers by this authorMG Domínguez, Corresponding Author MG Domínguez División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, México Vera M. Kalscheuer, PhDDepartment of Human Molecular GeneticsMax Planck Institute for Molecular GeneticsIhnestr. 73D-14195 BerlinGermanyTel.: +49 30 8413 1293Fax: +49 30 8413 1383e-mail: [email protected] Ma. Guadalupe Domínguez Quezada, PhDDivisión de GenéticaCentro de Investigación Biomédica de OccidenteIMSS, Sierra mojada 800Ap. Postal 1-3838GuadalajaraJaliscoMéxicoTel: (52) 33 36683000Fax: (52) 33 36181756e-mail: [email protected]Search for more papers by this authorVM Kalscheuer, Corresponding Author VM Kalscheuer Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, D-14195 Berlin, Germany Vera M. Kalscheuer, PhDDepartment of Human Molecular GeneticsMax Planck Institute for Molecular GeneticsIhnestr. 73D-14195 BerlinGermanyTel.: +49 30 8413 1293Fax: +49 30 8413 1383e-mail: [email protected] Ma. Guadalupe Domínguez Quezada, PhDDivisión de GenéticaCentro de Investigación Biomédica de OccidenteIMSS, Sierra mojada 800Ap. Postal 1-3838GuadalajaraJaliscoMéxicoTel: (52) 33 36683000Fax: (52) 33 36181756e-mail: [email protected]Search for more papers by this author C Córdova-Fletes, C Córdova-Fletes División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, MéxicoSearch for more papers by this authorN Rademacher, N Rademacher Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, D-14195 Berlin, GermanySearch for more papers by this authorI Müller, I Müller Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, D-14195 Berlin, GermanySearch for more papers by this authorJN Mundo-Ayala, JN Mundo-Ayala División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, MéxicoSearch for more papers by this authorEA Morales-Jeanhs, EA Morales-Jeanhs División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, MéxicoSearch for more papers by this authorJE García-Ortiz, JE García-Ortiz División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, MéxicoSearch for more papers by this authorA León-Gil, A León-Gil Departamento de Neurología y Neurocirugía Pediátrica, UMAE Hospital de Pediatría, CMNO-IMSS, 44340 Guadalajara, MéxicoSearch for more papers by this authorH Rivera, H Rivera División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, MéxicoSearch for more papers by this authorMG Domínguez, Corresponding Author MG Domínguez División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, 44340 Guadalajara, México Doctorado en Genética Humana, Universidad de Guadalajara, 44340 Guadalajara, México Vera M. Kalscheuer, PhDDepartment of Human Molecular GeneticsMax Planck Institute for Molecular GeneticsIhnestr. 73D-14195 BerlinGermanyTel.: +49 30 8413 1293Fax: +49 30 8413 1383e-mail: [email protected] Ma. Guadalupe Domínguez Quezada, PhDDivisión de GenéticaCentro de Investigación Biomédica de OccidenteIMSS, Sierra mojada 800Ap. Postal 1-3838GuadalajaraJaliscoMéxicoTel: (52) 33 36683000Fax: (52) 33 36181756e-mail: [email protected]Search for more papers by this authorVM Kalscheuer, Corresponding Author VM Kalscheuer Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, D-14195 Berlin, Germany Vera M. Kalscheuer, PhDDepartment of Human Molecular GeneticsMax Planck Institute for Molecular GeneticsIhnestr. 73D-14195 BerlinGermanyTel.: +49 30 8413 1293Fax: +49 30 8413 1383e-mail: [email protected] Ma. Guadalupe Domínguez Quezada, PhDDivisión de GenéticaCentro de Investigación Biomédica de OccidenteIMSS, Sierra mojada 800Ap. Postal 1-3838GuadalajaraJaliscoMéxicoTel: (52) 33 36683000Fax: (52) 33 36181756e-mail: [email protected]Search for more papers by this author First published: 21 December 2009 https://doi.org/10.1111/j.1399-0004.2009.01286.xCitations: 7Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume77, Issue1January 2010Pages 92-96 RelatedInformation