C. Lefévre

发表

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

M. Lathrop, J. Prud'homme, J. Fischer, 2004, Human molecular genetics.

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

M. Lathrop, A. Nègre-Salvayre, P. Laforêt, 2007, Nature Genetics.

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

J. Weissenbach, M. Lathrop, J. Prud'homme, 2002, Human molecular genetics.

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.

J. Prud'homme, J. Fischer, B. Bouadjar, 2001, The Journal of investigative dermatology.

New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study.

G. Gyapay, J. Weissenbach, J. Prud'homme, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.

M. Lathrop, J. Fischer, B. Bouadjar, 2007, The Journal of investigative dermatology.

Rheumatoid arthritis genome scan and putative autoimmunity locus

J. Weissenbach, C. Dib, P. Migliorini, 1997 .

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

J. Weissenbach, R. Heilig, M. Lathrop, 2001, American journal of human genetics.

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

M. Lathrop, J. Prud'homme, A. Mégarbané, 2006, Human molecular genetics.

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.

J. Weissenbach, R. Heilig, M. Lathrop, 2003, Human molecular genetics.

Mutations in the gene encoding SLURP-1 in Mal de Meleda.

J. Weissenbach, R. Heilig, M. Lathrop, 2001, Human molecular genetics.

Animal Cytogenetics and Comparative Mapping

K. Nicholas, M. Westerman, J. Cheng, 2004 .

Characterization of two whey protein genes in the Australian dasyurid marsupial, the stripe-faced dunnart (Sminthopsis macroura)

K. Nicholas, E. Pharo, M. Westerman, 2006, Cytogenetic and Genome Research.

Sequencing and mapping hemoglobin gene clusters in the Australian model dasyurid marsupial Sminthopsis macroura

K. Nicholas, M. Westerman, J. Cheng, 2004, Cytogenetic and Genome Research.

Confirmation of psoriasis susceptibility loci on chromosome 6p21 and 20p13 in French families.

S. Heath, E. Sobel, M. Lathrop, 2007, The Journal of investigative dermatology.

Lipoxygenase-3 ( ALOXE 3 ) and 12 ( R )-lipoxygenase ( ALOX 12 B ) are mutated in non-bullous congenital ichthyosiform erythroderma ( NCIE ) linked to chromosome 17 p 13 . 1

J. Weissenbach, M. Lathrop, J. Prud'homme, 2001 .

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.

J. Prud'homme, D. Hohl, C. Munro, 2003, The Journal of investigative dermatology.

A novel tandem repeat sequence located on human chromosome 4p: isolation and characterization.

S. Hadano, C. Lefèvre, J. Ikeda, 1997, Genomics.