Carlos Cardoso

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (2009)

Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, ...

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here...

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (2009)

Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, ...

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here...

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (2009)

Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, ...

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here...

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. (2009)

Cardoso, Carlos, Boys, Amber, Parrini, Ellena, Mignon-Ravix, Cécile, Mcmahon, Jacinta, Khantane, Sabrina, ...

BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients...

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. (2009)

Cardoso, Carlos, Boys, Amber, Parrini, Ellena, Mignon-Ravix, Cécile, Mcmahon, Jacinta, Khantane, Sabrina, ...

BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients...

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. (2009)

Cardoso, Carlos, Boys, Amber, Parrini, Ellena, Mignon-Ravix, Cécile, Mcmahon, Jacinta, Khantane, Sabrina, ...

BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients...

Abnormal network activity in a targeted genetic model of human double cortex. (2009)

Ackman, James, Aniksztejn, Laurent, Crépel, Valérie, Becq, Hélène, Pellegrino, Christophe, Cardoso, Carlos, ...

In human patients, cortical dysplasia produced by Doublecortin (DCX) mutations lead to mental retardation and intractable infantile epilepsies, but the underlying mechanisms are not known. DCX(-/-)...

Abnormal network activity in a targeted genetic model of human double cortex. (2009)

Ackman, James, Aniksztejn, Laurent, Crépel, Valérie, Becq, Hélène, Pellegrino, Christophe, Cardoso, Carlos, ...

In human patients, cortical dysplasia produced by Doublecortin (DCX) mutations lead to mental retardation and intractable infantile epilepsies, but the underlying mechanisms are not known. DCX(-/-)...

Abnormal network activity in a targeted genetic model of human double cortex. (2009)

Ackman, James, Aniksztejn, Laurent, Crépel, Valérie, Becq, Hélène, Pellegrino, Christophe, Cardoso, Carlos, ...

In human patients, cortical dysplasia produced by Doublecortin (DCX) mutations lead to mental retardation and intractable infantile epilepsies, but the underlying mechanisms are not known. DCX(-/-)...

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (2009)

Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, ...

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here...

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (2009)

Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, ...

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here...

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (2009)

Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, ...

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here...

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (2009)

Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, ...

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here...

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (2009)

Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, ...

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here...

Abnormal network activity in a targeted genetic model of human double cortex. (2009)

Ackman, James, Aniksztejn, Laurent, Crépel, Valérie, Becq, Hélène, Pellegrino, Christophe, Cardoso, Carlos, ...

In human patients, cortical dysplasia produced by Doublecortin (DCX) mutations lead to mental retardation and intractable infantile epilepsies, but the underlying mechanisms are not known. DCX(-/-)...

Abnormal network activity in a targeted genetic model of human double cortex. (2009)

Ackman, James, Aniksztejn, Laurent, Crépel, Valérie, Becq, Hélène, Pellegrino, Christophe, Cardoso, Carlos, ...

In human patients, cortical dysplasia produced by Doublecortin (DCX) mutations lead to mental retardation and intractable infantile epilepsies, but the underlying mechanisms are not known. DCX(-/-)...

Características clínicas demográficas em 99 episódios de febre reumática no Acre, Amazônia Brasileira (2005)

Borges,Fátima, Barbosa,Maria Luiza A., Borges,Renata Beyruth, Pinheiro,Olívia C., Cardoso,Carlos, Bastos,Claudilson, ...

OBJETIVO: Relatar as manifestações clínicas e características demográficas de pacientes com febre reumática atendidos em serviço público no Estado do Acre. MÉTODOS: Estudo de corte...

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene (2000)

Cardoso, Carlos, Leventer, Richard J., Matsumoto, Naomichi, Kuc, Julie A., Ramocki, Melissa B., Mewborn, Stephanie K., ...

Lissencephaly is a cortical malformation secondary to impaired neuronal migration resulting in mental retardation, epilepsy and motor impairment. It shows a severity spectrum from agyria with a...

Nesidioblastosis in the Adult Surgical Management (1997)

J. Palla Garcia, Teresa França, Consiglieri Pedroso, Carlos Cardoso, M'Olímpia Cid

Nesidioblastosis is an exceedingly rare occurrence in the adult and, when it appears, it is usually part of a MEA1 syndrome.We present a case of nesidioblastosis in a young woman, with no concurrent...

A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

Villard, Laurent, Nguyen, Karine, Cardoso, Carlos, Martin, Christa Lese, Weiss, Ann M., Sifry-Platt, Mara, ...

Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and...

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Cardoso, Carlos, Leventer, Richard J., Ward, Heather L., Toyo-oka, Kazuhito, Chung, June, Gross, Alyssa, ...

Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from...

Nesidioblastosis in the Adult Surgical Management

Garcia, J. Palla, França, Teresa, Pedroso, Consiglieri, Cardoso, Carlos, Cid, M'Olímpia

Nesidioblastosis is an exceedingly rare occurrence in the adult and, when it appears, it is usually part of a MEA1 syndrome.