Lossi AM - 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: lossi am. Eur J Hum Genet. 2005 Feb;13(2):176-83. doi: 10.1038/sj.ejhg.5201303. Eur J Hum Genet. 2005. PMID: 15508018

2

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: lossi am. J Med Genet. 1999 Mar;36(3):183-6. J Med Genet. 1999. PMID: 10204841 Free PMC article.

3

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. 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.

4

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: lossi am. Am J Hum Genet. 1996 Mar;58(3):499-505. Am J Hum Genet. 1996. PMID: 8644709 Free PMC article.

5

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: lossi am. Genomics. 1997 Jul 15;43(2):149-55. doi: 10.1006/geno.1997.4793. Genomics. 1997. PMID: 9244431

6

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: lossi am. 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.

7

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.

Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei MG, Croquette MF, Villard L. Lossi AM, et al. J Med Genet. 2002 Feb;39(2):113-7. doi: 10.1136/jmg.39.2.113. J Med Genet. 2002. PMID: 11836360 Free PMC article.

8

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families.

Lossi AM, Colleaux L, Chiaroni P, Fontes M, Villard L, Abidi F, Schwartz C, Briault S, Moraine C. Lossi AM, et al. Am J Med Genet. 2000 Oct 23;94(5):386-8. doi: 10.1002/1096-8628(20001023)94:5<386::aid-ajmg8>3.0.co;2-1. Am J Med Genet. 2000. PMID: 11050623 No abstract available.

9

Mutation screening of the PKD1 transcript by RT-PCR.

Burtey S, Lossi AM, Bayle J, Berland Y, Fontés M. Burtey S, et al. Among authors: lossi am. J Med Genet. 2002 Jun;39(6):422-9. doi: 10.1136/jmg.39.6.422. J Med Genet. 2002. PMID: 12070253 Free PMC article. No abstract available.

10

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts.

Gecz J, Villard L, Lossi AM, Millasseau P, Djabali M, Fontes M. Gecz J, et al. Among authors: lossi am. Hum Mol Genet. 1993 Sep;2(9):1389-96. doi: 10.1093/hmg/2.9.1389. Hum Mol Genet. 1993. PMID: 8242062

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