Fontes M - Search Results

1

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE. Abidi FE, et al. Among authors: fontes m. Eur J Hum Genet. 2005 Feb;13(2):176-83. doi: 10.1038/sj.ejhg.5201303. Eur J Hum Genet. 2005. PMID: 15508018

2

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M. Villard L, et al. Among authors: fontes m. Am J Hum Genet. 1996 Mar;58(3):499-505. Am J Hum Genet. 1996. PMID: 8644709 Free PMC article.

3

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.

Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M. Villard L, et al. Among authors: fontes m. Genomics. 1997 Jul 15;43(2):149-55. doi: 10.1006/geno.1997.4793. Genomics. 1997. PMID: 9244431

4

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Villard L, et al. Among authors: fontes m. J Med Genet. 1999 Mar;36(3):183-6. J Med Genet. 1999. PMID: 10204841 Free PMC article.

5

Carpenter-Waziri syndrome results from a mutation in XNP.

Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontés M, Curtis M. Abidi F, et al. Among authors: fontes m. Am J Med Genet. 1999 Jul 30;85(3):249-51. doi: 10.1002/(sici)1096-8628(19990730)85:3<249::aid-ajmg12>3.0.co;2-u. Am J Med Genet. 1999. PMID: 10398237 No abstract available.

6

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 in the inactivation bias.

Lossi AM, Millán JM, Villard L, Orellana C, Cardoso C, Prieto F, Fontés M, Martínez F. Lossi AM, et al. Among authors: fontes m. Am J Hum Genet. 1999 Aug;65(2):558-62. doi: 10.1086/302499. Am J Hum Genet. 1999. PMID: 10417298 Free PMC article. No abstract available.

7

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

Cardoso C, Lutz Y, Mignon C, Compe E, Depetris D, Mattei MG, Fontes M, Colleaux L. Cardoso C, et al. Among authors: fontes m. J Med Genet. 2000 Oct;37(10):746-51. doi: 10.1136/jmg.37.10.746. J Med Genet. 2000. PMID: 11015451 Free PMC article.

8

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: fontes m. 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.

9

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. Among authors: fontes m. Hum Mol Genet. 1998 Apr;7(4):679-84. doi: 10.1093/hmg/7.4.679. Hum Mol Genet. 1998. PMID: 9499421

10

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

Fichera M, Romano C, Castiglia L, Failla P, Ruberto C, Amata S, Greco D, Cardoso C, Fontés M, Ragusa A. Fichera M, et al. Among authors: fontes m. Hum Mutat. 1998;12(3):214. Hum Mutat. 1998. PMID: 10660327

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