Carlos CARDOSO, PhD
Carlos CARDOSO, PhD
INSERM - INMED, Marseille, France
inserm.fr üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome
K Toyo-Oka, A Shionoya, MJ Gambello, C Cardoso, R Leventer, HL Ward, ...
Nature genetics 34 (3), 274-285, 2003
3982003
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
C Rougeulle, C Cardoso, M Fontés, L Colleaux, M Lalande
Nature genetics 19 (1), 15-16, 1998
3331998
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
XH Jaglin, K Poirier, Y Saillour, E Buhler, G Tian, N Bahi-Buisson, ...
Nature genetics 41 (6), 746-752, 2009
3262009
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of …
C Cardoso, RJ Leventer, HL Ward, K Toyo-Oka, J Chung, A Gross, ...
The American Journal of Human Genetics 72 (4), 918-930, 2003
2522003
Two affected boys in a Rett syndrome family: clinical and molecular findings
L Villard, A Kpebe, C Cardoso, J Chelly, M Tardieu, M Fontes
Neurology 55 (8), 1188-1193, 2000
2302000
Specific Interaction between the XNP ATR-X Gene Product and the SET Domain of the Human EZH2 Protein
C Cardoso, S Timsit, L Villard, M Khrestchatisky, M Fontès, L Colleaux
Human molecular genetics 7 (4), 679-684, 1998
1661998
Further molecular and clinical delineation of co-locating 17p13. 3 microdeletions and microduplications that show distinctive phenotypes
DL Bruno, BM Anderlid, A Lindstrand, C van Ravenswaaij-Arts, ...
Journal of Medical Genetics 47 (5), 299-311, 2010
1422010
The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders
C Cardoso, C Mignon, G Hetet, B Grandchamps, M Fontes, L Colleaux
European Journal of Human Genetics 8 (3), 174-180, 2000
1422000
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
N Philip, B Chabrol, AM Lossi, C Cardoso, R Guerrini, WB Dobyns, ...
Journal of medical genetics 40 (6), 441-446, 2003
1242003
A locus for bilateral perisylvian polymicrogyria maps to Xq28
L Villard, K Nguyen, C Cardoso, CL Martin, AM Weiss, M Sifry-Platt, ...
The American Journal of Human Genetics 70 (4), 1003-1008, 2002
1212002
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)
C Cardoso, RJ Leventer, JJ Dowling, HL Ward, J Chung, KS Petras, ...
Human mutation 19 (1), 4-15, 2002
1182002
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14. 3-q15 deletion
C Cardoso, A Boys, E Parrini, C Mignon-Ravix, JM McMahon, S Khantane, ...
Neurology 72 (9), 784-792, 2009
1132009
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
C Cardoso, RJ Leventer, N Matsumoto, JA Kuc, MB Ramocki, ...
Human molecular genetics 9 (20), 3019-3028, 2000
1112000
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway
A Falace, E Buhler, M Fadda, F Watrin, P Lippiello, E Pallesi-Pocachard, ...
Proceedings of the National Academy of Sciences 111 (6), 2337-2342, 2014
832014
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase
L Villard, AM Lossi, C Cardoso, V Proud, P Chiaroni, L Colleaux, ...
Genomics 43 (2), 149-155, 1997
821997
Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model
N Lozovaya, S Gataullina, T Tsintsadze, V Tsintsadze, ...
Nature communications 5 (1), 1-15, 2014
752014
Abnormal network activity in a targeted genetic model of human double cortex
JB Ackman, L Aniksztejn, V Crépel, H Becq, C Pellegrino, C Cardoso, ...
Journal of Neuroscience 29 (2), 313-327, 2009
742009
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
V Conti, A Carabalona, E Pallesi-Pocachard, E Parrini, RJ Leventer, ...
Brain 136 (11), 3378-3394, 2013
732013
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved …
AM Lossi, JM Millan, L Villard, C Orellana, C Cardoso, F Prieto, M Fontes, ...
American journal of human genetics 65 (2), 558, 1999
721999
ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein
C Cardoso, Y Lutz, C Mignon, E Compe, D Depetris, MG Mattei, M Fontes, ...
Journal of medical genetics 37 (10), 746-751, 2000
592000
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