M. Vinet

发表

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Y. Berwald‐Netter, P. Billuart, A. Koulakoff, 1998, Cell.

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

H. R. Crollius, P. Billuart, J. Fryns, 1998, Nature.

Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.

A. Monaco, J. Ramser, R. Reinhardt, 2000, Genomics.

Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.

P. Billuart, J. Chelly, C. Moraine, 1998, Pathologie-biologie.

Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.

P. Billuart, J. Chelly, C. Moraine, 2000, Annales de genetique.

Inherited microdeletion in Xp21.3–22.1 involved in non‐specific mental retardation

G. Ponsot, J. Chelly, A. Kahn, 1998, Clinical genetics.

A gene for dominant nonspecific X-linked mental retardation is located in Xq28.

P. Billuart, G. Ponsot, J. Chelly, 1997, American journal of human genetics.

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.

P. Billuart, J. Chelly, A. Kahn, 1996, Human molecular genetics.

Human amniotic fluid α-glucosidase

M. Vinet, L. Poenaru, J. Dreyfus, 1981 .

α-Mannosidase in human red cells

M. Vinet, L. Poenaru, J. Dreyfus, 1979 .

Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes

J. Chelly, F. Fauchereau, C. Dargemont, 2005, Molecular and Cellular Neuroscience.

Doublecortin Interacts with μ Subunits of Clathrin Adaptor Complexes in the Developing Nervous System

S. Mcconnell, B. Schaar, P. Billuart, 2001, Molecular and Cellular Neuroscience.

Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system.

S. Mcconnell, B. Schaar, P. Billuart, 2001, Molecular and cellular neurosciences.

Doublecortin Is a Developmentally Regulated, Microtubule-Associated Protein Expressed in Migrating and Differentiating Neurons

S. Mcconnell, Y. Berwald‐Netter, B. Schaar, 1999, Neuron.

MECP2 mutations account for most cases of typical forms of Rett syndrome.

P. Jonveaux, J. Chelly, A. Arzimanoglou, 2000, Human molecular genetics.

Autosomal dominant polycystic kidney disease and α−4.2 thalassemia in a Caucasian family

C. Dodé, N. Monnier, L. Bachner, 1989, Human Genetics.

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

J. Fryns, H. van Bokhoven, V. Kalscheuer, 2002, Human molecular genetics.

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

A. Meindl, H. Ropers, R. Sudbrak, 2000, Nature Genetics.

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

P. Billuart, J. Fryns, H. van Bokhoven, 1998, Human molecular genetics.

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Lin Jun, Peter Marynen, Mark T. Ross, 1999, Nature Genetics.

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

D. Smadja, P. Billuart, O. Dulac, 1997, Journal of medical genetics.

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

P. Billuart, M. Ahmadian, A. Koulakoff, 2003, Molecular and Cellular Neuroscience.

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.

J. Beckmann, F. Leturcq, J. Kaplan, 1994, Journal of medical genetics.

Amniotic fluid protease activity and the prenatal detection of cystic fibrosis

M. Vinet, L. Poenaru, 1983, Prenatal diagnosis.

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

P. Billuart, G. Ponsot, J. Chelly, 1997, American journal of medical genetics.

Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression

M. Babron, J. Kaplan, L. Bachner, 1990, Human Genetics.

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.

E. Bertini, P. Billuart, J. Chelly, 1996, American journal of medical genetics.