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Anne-Marie Lossi
Researcher at French Institute of Health and Medical Research
Publications - 15
Citations - 479
Anne-Marie Lossi is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: X chromosome & Gene. The author has an hindex of 10, co-authored 15 publications receiving 456 citations. Previous affiliations of Anne-Marie Lossi include Aix-Marseille University & Necker-Enfants Malades Hospital.
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Journal ArticleDOI
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
Nicole Philip,Brigitte Chabrol,Anne-Marie Lossi,Carlos Cardoso,Renzo Guerrini,William B. Dobyns,Charles Raybaud,Laurent Villard +7 more
TL;DR: Progress in neuroimaging has aided the approach to brain malformations associated with mental retardation hence allowing a new classification of conditions previously described as non-syndromic, based on very similar brain mal Formations in affected subjects.
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Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
Vincent Cantagrel,Anne-Marie Lossi,S. Boulanger,Danielle Depetris,M.-G. Mattei,Jozef Gecz,C. E. Schwartz,L. Van Maldergem,Laurent Villard +8 more
TL;DR: It is proposed that the severe MR of the affected males in this family is due to the absence of the KIAA2022 gene product, and the high expression of this gene in fetal brain and in the adult cerebral cortex could be consistent with a role in brain development and/or cognitive function.
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Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase
Laurent Villard,Anne-Marie Lossi,Carlos Cardoso,V. Proud,Pierre Chiaroni,Laurence Colleaux,Charles E. Schwartz,Michel Fontes +7 more
TL;DR: Using a vectorette strategy, the intron/exon boundaries of the XNP/ATR-X gene are identified and sequenced, suggesting that mutations will be predominantly found in the helicase region as well as in the zinc finger regions and leading to a large screening of additional patients.
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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.
Anne-Marie Lossi,JM Millán,Laurent Villard,Carmen Orellana,Carlos Cardoso,Félix Prieto,Michel Fontes,Francisco Martínez +7 more
TL;DR: This work has shown clear improvements in the quality of life of patients diagnosed with central giant cell granuloma, and these improvements have been confirmed by a follow-up study at the National Institutes of Health in Washington DC.
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Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
Fatima Abidi,Carlos Cardoso,Anne-Marie Lossi,Robert Brian Lowry,Danielle Depetris,Marie-Geneviève Mattei,Herbert A. Lubs,Roger E. Stevenson,Michel Fontes,Albert E. Chudley,Charles E. Schwartz +10 more
TL;DR: The data suggest that ChLS is allelic to the ATR- X syndrome with its less severe phenotype being due to the presence of some XNP/ATR-X protein.