J. Prud'homme

发表

A radiation hybrid map of the human genome.

G. Gyapay, C. Fizames, J. Morissette, 1996, Human molecular genetics.

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

Bertrand Fontaine, Patrick Wincker, Jean Weissenbach, 1999, Nature Genetics.

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.

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.

Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families

P. Striano, J. Prud'homme, F. Zara, 2006, Epilepsia.

Physicians' response to a letter to confirm diagnosis in a genetic study of psoriasis.

J. Prud'homme, J. Fischer, E. Mahé, 2002, European journal of dermatology : EJD.

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.

17β-Hydroxysteroid Dehydrogenase Activity in Human Breast Epithelial Cell and Fibroblast Cultures

J. Prud'homme, A. Gompel, A. Boué, 1984 .

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.

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Michel Baulac, Stéphanie Baulac, Roberto Bruzzone, 2001, Nature 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.

Cloning of a gene expressed in human breast cancer and regulated by estrogen in MCF-7 cells.

M. Le Cunff, J. Prud'homme, E. Milgrom, 1985, DNA.

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

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

Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22

J. Weissenbach, T. Bruls, J. Prud'homme, 1998, Human Genetics.

Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies

I. Scheffer, C. Elger, S. Lorenz, 2006, Epilepsia.

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.

J. Weissenbach, J. Prud'homme, L. Dubertret, 1995, Human molecular genetics.

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

M. Baulac, J. Prud'homme, A. Brice, 1999, American journal of human genetics.

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

J. Weissenbach, M. Lathrop, J. Prud'homme, 2003, Human molecular genetics.

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

J. Weissenbach, J. Burgunder, J. Prud'homme, 2000, Human molecular genetics.

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

J. Prud'homme, A. Brice, O. Dulac, 2002, Brain : a journal of neurology.

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25‐q31

M. Baulac, E. Génin, J. Prud'homme, 2001, Annals of neurology.

Monoclonal Antibodies Against Steroid Receptors and Steroid-Induced Proteins

J. Prud'homme, E. Milgrom, M. Perrot-Applanat, 1989 .

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

J. Weissenbach, J. Prud'homme, J. Fischer, 2000, American journal of human genetics.

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

J. Weissenbach, J. Prud'homme, J. Pouget, 1998, Journal of medical genetics.

ADAM33, a New Candidate for Psoriasis Susceptibility

S. Heath, M. Lathrop, J. Prud'homme, 2007, PloS one.

European genetic study on rheumatoid arthritis: is there a linkage of the interleukin-1 (IL-1), IL-10 or IL-4 genes to RA?

J. Prud'homme, M. Spyropoulou, P. Migliorini, 2001, Clinical and experimental rheumatology.

Noninherited maternal antigens do not play a role in rheumatoid arthritis susceptibility in Europe. European Consortium on Rheumatoid Arthritis Families.

J. Prud'homme, E. G. de la Concha, M. Spyropoulou, 2000, Arthritis and rheumatism.

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.

Enzyme‐linked immunosorbent assay of ps2 in breast cancers, benign tumors, and normal breast tissues correlation with prognosis and adjuvant hormone therapy

J. Prud'homme, E. Milgrom, C. Andrieu, 1992, Cancer.

Immunohistochemistry of pS2 in normal human breast and in various histological forms of breast tumours

J. Prud'homme, E. Milgrom, K. Hacène, 1993, Histopathology.

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

R. Siebert, P. Deloukas, L. French, 2002, Human molecular genetics.

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 .

An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders.

S. Heath, B. Prum, M. Lathrop, 2009, The Journal of investigative dermatology.

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.

J. Prud'homme, A. López de Munain, A. Sáenz, 1999, Archives of neurology.

Mapping of Papillon-Lefèvre Syndrome to the Chromosome 11q14 Region

Jean Weissenbach, Louis Dubertret, Judith Fischer, 1997, European journal of human genetics : EJHG.

Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda.

J. Prud'homme, J. Fischer, B. Bouadjar, 2000, Archives of dermatology.

Genome search for susceptibility loci of common idiopathic generalised epilepsies.

T. Wienker, A. Sundquist, J. Prud'homme, 2000, Human molecular genetics.

Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q

J. Prud'homme, A. López de Munain, D. Grid, 1999, Annals of neurology.

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

J. Prud'homme, J. Hazan, C. Paternotte, 1999, Archives of neurology.

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

J. Weissenbach, J. Burgunder, J. Prud'homme, 1996, Brain : a journal of neurology.

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

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

CGI‐58/ABHD5 gene is mutated in Dorfman–Chanarin syndrome

J. Prud'homme, J. Fischer, L. Laroche, 2004, American journal of medical genetics. Part A.

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity

J. Weissenbach, J. Prud'homme, L. Dubertret, 1995 .

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families

J. Prud'homme, C. Paternotte, H. Topaloglu, 2001, Neuropediatrics.

Genetic linkage of Meleda disease to chromosome 8qter

C. Fizames, J. Weissenbach, R. Heilig, 1998, European Journal of Human Genetics.

Association of rheumatoid arthritis with an amino acid allelic variation of the T cell receptor.

J. Weissenbach, J. Prud'homme, K. Pile, 1997, Arthritis and rheumatism.

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21

J. Weissenbach, J. Prud'homme, A. Dürr, 2007, Neurology.

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.

Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.

J. Prud'homme, E. Demir, M. Topçu, 2004, Pediatric neurology.

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.

T. Wienker, J. Prud'homme, F. Zara, 2002, American journal of medical genetics.

Exploration of a Putative Susceptibility Locus for Idiopathic Generalized Epilepsy on Chromosome 8p12

J. Prud'homme, A. Heils, F. Zara, 2003, Epilepsia.

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures

T. Wienker, J. Prud'homme, F. Zara, 2002, Epilepsy Research.