Lossi AM - Search Results

1

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.

Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, Schwartz CE, Van Maldergem L, Villard L. Cantagrel V, et al. Among authors: lossi am. J Med Genet. 2004 Oct;41(10):736-42. doi: 10.1136/jmg.2004.021626. J Med Genet. 2004. PMID: 15466006 Free PMC article.

2

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: lossi am. 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.

3

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

Cantagrel V, Haddad MR, Ciofi P, Andrieu D, Lossi AM, Maldergem Lv, Roux JC, Villard L. Cantagrel V, et al. Among authors: lossi am. Gene Expr Patterns. 2009 Sep;9(6):423-9. doi: 10.1016/j.gep.2009.06.001. Epub 2009 Jun 11. Gene Expr Patterns. 2009. PMID: 19524067

4

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: lossi am. Hum Mutat. 2007 Apr;28(4):356-64. doi: 10.1002/humu.20450. Hum Mutat. 2007. PMID: 17191205

5

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

6

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.

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

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.

10

Villard L, Briault S, Lossi AM, Paringaux C, Belougne J, Colleaux L, Pincus DR, Woollatt E, Lespinasse J, Munnich A, Moraine C, Fontès M, Gecz J. Villard L, et al. Among authors: lossi am. J Med Genet. 1999 Oct;36(10):754-8. doi: 10.1136/jmg.36.10.754. J Med Genet. 1999. PMID: 10528854 Free PMC article.

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