Anne-Marie Lossi - Publications
2007
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. Human Mutation, 2007, 28:356-364.
2005
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
Abidi FE, Cardoso C, Lossi AM, Lowry B, Depetris D, Mattéi MG, Lubs HA, Stevenson RG, Fontès M, Chudley AE, Schwartz CE. European Journal of Human Genetics, 2005, 13:176-183.
2004
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. Journal of Medical Genetics, 2004, 41:736-742.
2003
Mutations in the oligophrenin-1 gene cause X-linked congenital cerebellar hypoplasia.
Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Journal of Medical Genetics, 2003, 40:441-446.
2002
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. Journal of Medical Genetics, 2002, 39:113-117.
Mutation screening of the PKD1 transcript by RT-PCR.
Burtey S, Lossi AM, Bayle J, Berland Y, Fontès M. Journal of Medical Genetics, 2002, 39:422-429.
2000
Exclusion of nine candidate genes for their involvment 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. American Journal of Medical Genetics, 2000, 94:386-388.
1999
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation : physical and transcriptional mapping of their common breakpoint region in Xq13.1.
Villard L, Briault S, Lossi AM, Paringaux C, Belougne J, Colleaux L, Pincus DR, Woollatt E, Lespinasse J, Munnich A, Moraine C, Fontes M, Gecz J. Journal of Medical Genetics, 1999, 36:754-758.
Mutation in 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, Millan JM, Villard L, Orellana C, Cardoso C, Prieto F, Fontes M, Martinez F. American Journal of Human Genetics, 1999, 65:558-561.
Transcript map of the human chromosome Xq11-Xq21 region : localization of 33 novel genes and one pseudogene.
Villard L, Belougne J, Lossi AM, Fontes M, Colleaux L. Gene, 1999, 235:43-50.
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, Fontes M. Journal of Medical Genetics, 1999, 36:183-186.
A Polymorpic Microsatellite XNP-GT In The XNP/ATR-X Gene's Promotor Allows Familial Indirect Diagnosis.
Lévy N, Bernard Bronsard R, Lossi AM, Colleaux L, Cardoso C, Villard L, Fontès M. Human Mutation , 1999, 14:448.
1997
Determination of the genomic structure of the XNP/ATR-X gene, encoding a potential zinc-finger helicase.
Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontes M. Genomics, 1997, 43:149-155.
1996
Splicing mutation in the ATR-X gene can lead to a mental retardation phenotype without alpha-thalassemia.
Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontes M. American Journal of Human Genetics, 1996, 58:499-505.
1995
Construction of a YAC contig spanning the Xq13.3 subband.
Villard L, Gecz J, Colleaux L, Lossi AM, Chelly J, Ishikawa-Brush Y, Monaco AP, Fontes M. Genomics , 1995, 26:115-122.
1993
Physical and transcriptional mapping of the DXS56-PGK1 1Mb region : isolation of three new transcripts.
Gecz J, Villard L, Lossi AM, Millasseau P, Djabali M, Fontes M. Human Molecular Genetics, 1993, 2:1389-1393.
1992
Isolation and characterization of a repetitive DNA sequence from Leishmania infantum: development of a visceral leishmaniasis polymerase chain reaction.
Piarroux R, Azaiez R, Lossi AM, Reynier P, Muscatelli F, Gambarelli F, Fontes M, Dumon H, Quilici M. Am J Trop Med Hyg, 1992, 49:364-369.
1989
The mRNA transcripts from a mutant beta-globin gene derived from splicing at preferential cryptic sites.
Lossi AM, Berge-Lefranc JL. FEBS Letters, 1989, 256:163-166.
A further case of beta-thalassemia with an homozygous T-C substitution at the donor splice site of the first intervening sequence of the beta-globin gene.
Lossi AM, Milland M, Berge-Lefranc JL, Lena-Russo D, Perrimond H. Hemoblogin, 1989, 13:619-621.