Florence Jobard - Concepedia

Concepedia

Author

Florence Jobard

Centre National de Recherche en Génomique Humaine

Also Known As

F. Jobard, Florence Jobard

13

Publications

1.6K

Citations

11

H-Index

25

Concepts

All Affiliations

Centre National de Recherche en Génomique Humaine Genoscope Hacettepe University Genethon (France)Centre Hospitalo-Universitaire Bab El Oued

FJ

About

Florence Jobard is an author at Centre National de Recherche en Génomique Humaine specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	1.5K
2	Natural Sciences	2	2	589
3	Biochemistry	2	2	589
4	Cell Biology	1	1	56
5	Cellular Physiology	1	1	56

Florence Jobard

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11

Publications

1.6K

Citations

11

H-Index

	Year	Citations
Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome Caroline Lefèvre, Florence Jobard, F. Caux, The American Journal of Human Genetics Mendelian DisorderBiochemistryGenetic DisorderNatural SciencesGenetics	2001	460
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1 Florence Jobard Human Molecular Genetics Allelic VariantDevelopmental BiologyGenetic DisorderMedicineGenetics	2002	282
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome Florence Jobard Human Molecular Genetics Mendelian DisorderGenetic DisorderGeneticsNew GeneProtein Genetics	2003	257
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis Caroline Lefèvre, B. Bouadjar, Ayşen Karaduman, Human Molecular Genetics Developmental AnomalyDevelopmental BiologyNew FormHomozygosity MappingGenomic Localization	2004	173
l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 Meral Topçu, Florence Jobard, Sophie Halliez, Human Molecular Genetics L-2-hydroxyglutaric AciduriaMendelian DisorderBiochemistryMutant Gene C14orf160Natural Sciences	2004	129
<scp>L</scp>-2-Hydroxyglutaric Aciduria and Brain Tumors in Children with Mutations in the<i>L2HGDH</i>Gene: Neuroimaging Findings Göknur Haliloğlu, Florence Jobard, Kaya Oğuz, Neuropediatrics	2008	65
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, Journal of Investigative Dermatology FibrosisP.c217r MutationPathologyCytoskeletonSkin Equivalent Model	2008	56
Novel Mutations in ALOX12B in Patients with Autosomal Recessive Congenital Ichthyosis and Evidence for Genetic Heterogeneity on Chromosome 17p13 Fabienne Lesueur, B. Bouadjar, Caroline Lefèvre, Journal of Investigative Dermatology Mendelian DisorderGenetic DisorderGeneticsChromosome 17P13Novel Mutations	2006	45
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, Abdelmadjid Zahaf, H. Turki, Journal of Investigative Dermatology Allelic VariantGenetic DisorderGeneticsPathogenesisImmunology	2003	44
Novel Point Mutations, Deletions, and Polymorphisms in the Cathepsin C Gene in Nine Families from Europe and North Africa with Papillon–Lefèvre Syndrome C Blanchet‐Bardon, B. Bouadjar, J.‐F. Stalder, Journal of Investigative Dermatology Genetic DisorderGeneticsPathogenesisGenetic EpidemiologyPathology	2001	38

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