Publications by authors named "Jobard Florence"

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An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
Hala Mégarbané, Jobard Florence, Jörn Oliver Sass, Susanne Schwonbeck, Mario Foglio

J Invest Dermatol· July 2009

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A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
Stephanie Claus, Judith Fischer, Hala Mégarbané, André Mégarbané, Florence Jobard

J Invest Dermatol· June 2008

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Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
Fabienne Lesueur, Bakar Bouadjar, Caroline Lefèvre, Florence Jobard, Stéphanie Audebert

J Invest Dermatol· April 2007

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L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
Meral Topçu, Florence Jobard, Sophie Halliez, Turgay Coskun, Cengiz Yalçinkayal

Hum Mol Genet· November 2004

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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
Caroline Lefèvre, Bakar Bouadjar, Aysen Karaduman, Florence Jobard, Safa Saker

Hum Mol Genet· October 2004

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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
Caroline Lefévre, Stéphanie Audebert, Florence Jobard, Bakar Bouadjar, Hakima Lakhdar

Hum Mol Genet· September 2003

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Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
Florence Jobard, Bakar Bouadjar, Frédéric Caux, Smail Hadj-Rabia, Christina Has

Hum Mol Genet· April 2003

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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.
Slaheddine Marrakchi, Stéphanie Audebert, Bakar Bouadjar, Christina Has, Caroline Lefèvre, Florence Jobard

J Invest Dermatol· March 2003

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
Florence Jobard, Caroline Lefèvre, Aysen Karaduman, Claudine Blanchet-Bardon, Serap Emre

Hum Mol Genet· January 2002

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