A. Lossi

发表

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

C. Schwartz, V. Proud, L. Villard, 1997, Genomics.

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

J. Roux, L. Villard, L. Maldergem, 2009, Gene expression patterns : GEP.

Truncation of NHEJ1 in a patient with polymicrogyria

N. Philip, D. Figarella-Branger, S. Lindsay, 2007, Human mutation.

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

J. Gécz, M. Mattéi, C. Schwartz, 2002, Journal of medical genetics.

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

J. Gécz, A. Toutain, C. Houdayer, 1996, American Journal of Human Genetics.

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.

J. Millán, C. Orellana, F. Martínez, 1999, American journal of human genetics.

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

C. Schwartz, F. Abidi, L. Villard, 2000, American journal of medical genetics.

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

M. Fichera, C. Romano, N. Philip, 1999, Journal of medical genetics.

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

J. Gécz, P. Millasseau, L. Villard, 1993, Human molecular genetics.

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

J. Gécz, C. Schwartz, M. Mattei, 2004, Journal of Medical Genetics.

Mutation screening of the PKD1 transcript by RT-PCR

S. Burtey, Y. Berland, M. Fontès, 2002, Journal of medical genetics.

The mRNA transcripts from a mutant β‐globin gene derived from splicing at preferential cryptic sites

J. Bergé-lefranc, A. Lossi, J. Bergé-Lefranc, 1989, FEBS letters.

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

N. Philip, W. Dobyns, R. Guerrini, 2003, Journal of medical genetics.

Direct cDNA Selection Using Human and Mouse cDNAs: Application to Xq13.3 Chromosomal Region

J. Gécz, L. Villard, M. Fontès, 1994 .

Isolation and characterization of a repetitive DNA sequence from Leishmania infantum: development of a visceral leishmaniasis polymerase chain reaction.

R. Piarroux, P. Reynier, H. Dumon, 1993, The American journal of tropical medicine and hygiene.

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

R. Stevenson, C. Schwartz, H. Lubs, 2005, European Journal of Human Genetics.

Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene.

L. Villard, L. Colleaux, M. Fontès, 1999, Gene.

Construction of a YAC contig spanning the Xq13.3 subband.

J. Gécz, A. Monaco, Y. Ishikawa-Brush, 1995, Genomics.

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

J. Gécz, A. Munnich, C. Moraine, 1999, Journal of medical genetics.