Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males
Cantagrel, V, Lossi, A-M, Boulanger, S, Depetris, D, Mattei, M-G, Gecz, J, Schwartz, C E, Van Maldergem, L, Villard, L
Published in Journal of medical genetics (01.10.2004)
Published in Journal of medical genetics (01.10.2004)
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Journal Article
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
Philip, N, Chabrol, B, Lossi, A-M, Cardoso, C, Guerrini, R, Dobyns, W B, Raybaud, C, Villard, L
Published in Journal of medical genetics (01.06.2003)
Published in Journal of medical genetics (01.06.2003)
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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, A-M, Laugier-Anfossi, F, Depetris, D, Gecz, J, Gedeon, A, Kooy, F, Schwartz, C, Mattei, M-G, Croquette, M-F, Villard, L
Published in Journal of medical genetics (01.02.2002)
Published in Journal of medical genetics (01.02.2002)
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Journal Article
Mutation screening of the PKD1 transcript by RT-PCR
Burtey, S, Lossi, A M, Bayle, J, Berland, Y, Fontés, M
Published in Journal of medical genetics (01.06.2002)
Published in Journal of medical genetics (01.06.2002)
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Journal Article
Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase
Villard, Laurent, Lossi, Anne-Marie, Cardoso, Carlos, Proud, V., Chiaroni, Pierre, Colleaux, Laurence, Schwartz, Charles, Fontés, Michel
Published in Genomics (San Diego, Calif.) (15.07.1997)
Published in Genomics (San Diego, Calif.) (15.07.1997)
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Isolation and characterization of a repetitive DNA sequence from Leishmania infantum: development of a visceral leishmaniasis polymerase chain reaction
Piarroux, R, Azaiez, R, Lossi, A M, Reynier, P, Muscatelli, F, Gambarelli, F, Fontes, M, Dumon, H, Quilici, M
Published in The American journal of tropical medicine and hygiene (01.09.1993)
Published in The American journal of tropical medicine and hygiene (01.09.1993)
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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, Laurent, Briault, Sylvain, Lossi, Anne-Marie, Paringaux, Christine, Belougne, Jérôme, Colleaux, Laurence, Pincus, D R, Woollatt, E, Lespinasse, James, Munnich, Arnold, Moraine, Claude, Fontès, Michel, Gecz, Jozef
Published in Journal of medical genetics (01.10.1999)
Published in Journal of medical genetics (01.10.1999)
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Journal Article
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
Villard, Laurent, Bonino, Marie-Claude, Abidi, Fatima, Ragusa, Angela, Belougne, Jérôme, Lossi, Anne-Marie, Seaver, Laurie, Bonnefont, Jean-Paul, Romano, Corrado, Fichera, Marco, Lacombe, Didier, Hanauer, André, Philip, Nicole, Schwartz, Charles, Fontés, Michel
Published in Journal of medical genetics (01.03.1999)
Published in Journal of medical genetics (01.03.1999)
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Journal Article
Construction of a YAC contig spanning the Xq13.3 subband
Villard, Laurent, Gecz, Jozef, Colleaux, Laurence, Lossi, Anne-Marie, Chelly, Jamel, Ishikawa-Brush, Yumiko, Monaco, Anthony P., Fontes, Michel
Published in Genomics (San Diego, Calif.) (01.03.1995)
Published in Genomics (San Diego, Calif.) (01.03.1995)
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Journal Article
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, A.M., Millán, J.M., Villard, L., Orellana, C., Cardoso, C., Prieto, F., Fontés, M., Martínez, F.
Published in American journal of human genetics (01.08.1999)
Published in American journal of human genetics (01.08.1999)
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Journal Article
Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts
Gecz, J, Villard, L, Lossi, A M, Millasseau, P, Djabali, M, Fontes, M
Published in Human molecular genetics (01.09.1993)
Published in Human molecular genetics (01.09.1993)
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Journal Article
Mutations in the oligophrenin-1 gene
Philip, N, Chabrol, B, Lossi, A-M, Cardoso, C, Guerrini, R, Dobyns, W.B, Raybaud, C, Villard, L
Published in Journal of medical genetics (01.06.2003)
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Published in Journal of medical genetics (01.06.2003)
Journal Article
Abnormal expression of the KLF8
Lossi, A-M, Laugier-Anfossi, F, Depetris, D, Gecz, J, Gedeon, A, Kooy, F, Schwartz, C, Mattei, M-G, Croquette, M-F, Villard, L
Published in Journal of medical genetics (01.02.2002)
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Published in Journal of medical genetics (01.02.2002)
Journal Article
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families
Lossi, A M, Colleaux, L, Chiaroni, P, Fontes, M, Villard, L, Abidi, F, Schwartz, C, Briault, S, Moraine, C
Published in American journal of medical genetics (23.10.2000)
Published in American journal of medical genetics (23.10.2000)
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Journal Article
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome
Abidi, Fatima E, Cardoso, Carlos, Lossi, Anne-Marie, Lowry, Robert Brian, Depetris, Danielle, Mattéi, Marie-Geneviève, Lubs, Herbert A, Stevenson, Roger E, Fontes, Michel, Chudley, Albert E, Schwartz, Charles E
Published in European journal of human genetics : EJHG (01.02.2005)
Published in European journal of human genetics : EJHG (01.02.2005)
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Journal Article
A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis
Lévy, Nicolas, Bernard-Bronsard, Rafaëlle, Lossi, Anne-Marie, Colleaux, Laurence, Cardoso, Carlos, Villard, Laurent, Fontés, Michel
Published in Human mutation (01.11.1999)
Published in Human mutation (01.11.1999)
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