Cardoso C - Search Results

1

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB. Villard L, et al. Among authors: cardoso c. Am J Hum Genet. 2002 Apr;70(4):1003-8. doi: 10.1086/339433. Epub 2002 Jan 29. Am J Hum Genet. 2002. PMID: 11822025 Free PMC article.

2

Truncation of NHEJ1 in a patient with polymicrogyria.

Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L. Cantagrel V, et al. Among authors: cardoso c. Hum Mutat. 2007 Apr;28(4):356-64. doi: 10.1002/humu.20450. Hum Mutat. 2007. PMID: 17191205

3

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 C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Cardoso C, et al. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5. Am J Hum Genet. 2003. PMID: 12621583 Free PMC article.

4

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein.

Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontès M, Colleaux L. Cardoso C, et al. Hum Mol Genet. 1998 Apr;7(4):679-84. doi: 10.1093/hmg/7.4.679. Hum Mol Genet. 1998. PMID: 9499421

5

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

Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH. Cardoso C, et al. Hum Mol Genet. 2000 Dec 12;9(20):3019-28. doi: 10.1093/hmg/9.20.3019. Hum Mol Genet. 2000. PMID: 11115846

6

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Cardoso C, et al. Hum Mutat. 2002 Jan;19(1):4-15. doi: 10.1002/humu.10028. Hum Mutat. 2002. PMID: 11754098 Review.

7

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis.

Lévy N, Bernard-Bronsard R, Lossi AM, Colleaux L, Cardoso C, Villard L, Fontés M. Lévy N, et al. Among authors: cardoso c. Hum Mutat. 1999 Nov;14(5):448. doi: 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q. Hum Mutat. 1999. PMID: 10533076 No abstract available.

8

Two affected boys in a Rett syndrome family: clinical and molecular findings.

Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M. Villard L, et al. Among authors: cardoso c. Neurology. 2000 Oct 24;55(8):1188-93. doi: 10.1212/wnl.55.8.1188. Neurology. 2000. PMID: 11071498

9

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.

Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Philip N, et al. Among authors: cardoso c. J Med Genet. 2003 Jun;40(6):441-6. doi: 10.1136/jmg.40.6.441. J Med Genet. 2003. PMID: 12807966 Free PMC article. No abstract available.

10

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. Leventer RJ, et al. Among authors: cardoso c. Neurology. 2001 Aug 14;57(3):416-22. doi: 10.1212/wnl.57.3.416. Neurology. 2001. PMID: 11502906

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