N. Ravisé

发表

Silencing of the Charcot–Marie–Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells

M. Ruberg, C. Depienne, A. B. Evercooren, 2007, Neurobiology of Disease.

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Y. Agid, M. Ruberg, A. Durr, 1994, American journal of human genetics.

Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies

M. Ruberg, A. Brice, S. Tardieu, 2003, American journal of medical genetics. Part A.

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.

Y. Agid, A. Durr, A. Dürr, 1993, Human molecular genetics.

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group.

R. Gouider, M. Gugenheim, S. Tardieu, 1995, Human molecular genetics.

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).

G. Chazot, R. Gouider, E. Le Guern, 1994, Cytogenetics and cell genetics.

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

Y. Agid, A. Brice, R. Gouider, 1996, Human molecular genetics.

Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis.

Y. Agid, A. Brice, R. Gouider, 1996, Cytogenetics and cell genetics.

The Autosomal Recessive Form of CMT Disease Linked to 5q31‐q33

A. Brice, T. Maisonobe, D. Grid, 1999, Annals of the New York Academy of Sciences.

Early prenatal diagnosis of 21‐hydroxylase deficiency using amniotic fluid 17‐hydroxyprogesterone determination and DNA probes

J. Oury, M. Raux-Demay, J. Boué, 1989, Prenatal diagnosis.

Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".

J. Boué, L. Poenaru, J. Dreyfus, 1977, American journal of human genetics.

Chromosome 11q localization of one of the three expected genes for the human alpha-3-fucosyltransferases, by somatic hybridization.

A. Gibaud, R. Oriol, J. Feingold, 1991, Cytogenetics and Cell Genetics.

Gene dosage effect in human triploid fibroblasts

C. Junien, J. Boué, A. Boué, 1976, Human Genetics.

Androgenetic origin of African complete hydatidiform moles demonstrated by HLA markers

A. Boué, P. Couillin, N. Ravisé, 2004, Human Genetics.

Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13

C. Junien, C. Jeanpierre, F. Barichard, 1989, Human Genetics.

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

M. Ruberg, A. Brice, N. Birouk, 2006, Neurology.

HLA markers in parents of triploid conceptuses.

J. Hors, J. Boué, A. Boué, 1977, Pathologie-biologie.

[Identification by Q and G bands of chromosome anomalies in spontaneous abortion].

J. Boué, A. Boué, N. Ravisé, 1976, Annales de genetique.

Simultaneous Fluorescence In-situ Hybridization (FISH) and R-Banding By Primed In-situ Labelling (PRINS)

A. Bernheim, P. Coullin, N. Ravisé, 2004, Chromosome Research.

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

M. Ruberg, A. Brice, N. Lévy, 1998, Human molecular genetics.

More precise localization of the gene for Hunter syndrome.

J. Boué, I. Oberlé, P. Couillin, 1990, Genomics.

Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33

A. Brice, T. Maisonobe, D. Grid, 1996 .

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

A. Mégarbané, A. Brice, D. Sherman, 2001, Human molecular genetics.

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1

A. Brice, N. Birouk, T. Maisonobe, 1999, European Journal of Human Genetics.

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Y. Agid, A. Brice, G. Stevanin, 1992, Journal of medical genetics.

Duplication within chromosome 17 p 11 . 2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type la

Y. Agid, A. Brice, G. Stevanin, 2022 .

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

J. Weissenbach, Y. Agid, C. Broeckhoven, 1995, Nature Genetics.

Assignment of 112 microsatellite markers to 23 chromosome 11 subregions delineated by somatic hybrids: comparison with the genetic map.

C. Fizames, C. Junien, A. Vignal, 1994, Genomics.

PK3: A new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance

C. Junien, J. Boué, A. Boué, 2004, Human Genetics.

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33

A. Brice, T. Maisonobe, D. Grid, 1997, Neuromuscular Disorders.

Coincidence of two genetic forms of Charcot–Marie–Tooth disease in a single family

E. Génin, A. Brice, S. Tardieu, 2004, Neurology.

Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11–Xq21 microsatellites in a new large family: Three new markers are closely linked to the gene

J. Weissenbach, Y. Agid, A. Vignal, 1994, Neuromuscular Disorders.

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.

C. Duyckaerts, A. Brice, J. Camonis, 2001, Human molecular genetics.

[HLA and molar pregnancies (triploidies, hydatidiform moles and choriocarcinoma). Etiological and epidemiological study].

J. Oury, J. Hors, J. Boué, 1987, Annales de Genetique.

Strategy for constructing somatic hybrids isolating the two derivative chromosomes in X;autosome translocations. Application to a female patient t(X;5) with Hunter syndrome.

A. Boué, P. Couillin, N. Ravisé, 1990, Annales de genetique.