Florence Jobard
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Explore the profile of Florence Jobard including associated specialties, affiliations and a list of published articles.
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8
Citations
396
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Recent Articles
1.
Claus S, Fischer J, Megarbane H, Megarbane A, Jobard F, Debret R, et al.
J Invest Dermatol
. 2008 Jan;
128(6):1442-50.
PMID: 18185537
Cutis laxa (CL) is a rare genodermatosis, which is clinically and genetically heterogeneous. It is characterized by redundant, loose, sagging, and inelastic skin. In a consanguineous family from Lebanon with...
2.
Lesueur F, Bouadjar B, Lefevre C, Jobard F, Audebert S, Lakhdar H, et al.
J Invest Dermatol
. 2006 Dec;
127(4):829-34.
PMID: 17139268
We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene...
3.
Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Ozbas Gerceker F, et al.
Hum Mol Genet
. 2004 Sep;
13(22):2803-11.
PMID: 15385440
l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood...
4.
Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, et al.
Hum Mol Genet
. 2004 Aug;
13(20):2473-82.
PMID: 15317751
We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous...
5.
Lefevre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, et al.
Hum Mol Genet
. 2003 Aug;
12(18):2369-78.
PMID: 12915478
Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33-35. We report the identification of five missense mutations...
6.
Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, et al.
Hum Mol Genet
. 2003 Apr;
12(8):925-35.
PMID: 12668616
Kindler syndrome is a rare autosomal-recessive genodermatosis characterized by bullous poikiloderma with photosensitivity. We report the localization to chromosome 20p12.3 by homozygosity mapping and the identification of a new gene,...
7.
Marrakchi S, Audebert S, Bouadjar B, Has C, Lefevre C, Munro C, et al.
J Invest Dermatol
. 2003 Feb;
120(3):351-5.
PMID: 12603845
Mal de Meleda is a recessive, transgressive palmoplantar keratoderma for which we previously identified mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1). In this report...
8.
Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, et al.
Hum Mol Genet
. 2002 Jan;
11(1):107-13.
PMID: 11773004
We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17. Linkage disequilibrium analysis of six families affected...