Výsledky vyhledávání - "Florence Jobard"

Novel Mutations in ALOX12B in Patients with Autosomal Recessive Congenital Ichthyosis and Evidence for Genetic Heterogeneity on Chromosome 17p13

Autor: Bakar Bouadjar, Judith Fischer, Ayşen Karaduman, Florence Jobard, Caroline Lefèvre, Fabienne Lesueur, Stéphanie Audebert, Hakima Lakhdar, Safa Saker, Ludovic Martin, Mark Lathrop, Gianluca Tadini, Serap Emre

Publikováno v: Journal of Investigative Dermatology. 127:829-834

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 cluster, which includes three lipoxygenase genes,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c38319a0f8be29361aef6b43af85591f
https://doi.org/10.1038/sj.jid.5700640

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

Autor: Christina Has, Bakar Bouadjar, Jean François Prud'homme, Jean Weissenbach, Judith Fischer, Smail Hadj-Rabia, Fumi Matsuda, Mark Lathrop, Frédéric Caux, Florence Jobard

Publikováno v: Human Molecular Genetics. 12:925-935

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, which we propose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c7b06e33287488176a4749aab5eedde
https://doi.org/10.1093/hmg/ddg097

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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

Autor: Ayşen Karaduman, Florence Jobard, Judith Fischer, Jean Weissenbach, Claudine Blanchet-Bardon, Mark Lathrop, Meral Özgüç, Caroline Lefèvre, Serap Emre, Jean-François Prud'homme

Publikováno v: Scopus-Elsevier

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f16b9fca369a0c0cc614315555f5c49e
https://doi.org/10.1093/hmg/11.1.107

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Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Autor: Bakar Bouadjar, Florence Jobard, Caroline Lefèvre, Meral Özgüç, Mark Lathrop, Frédéric Caux, Jean-François Prud'homme, Jean Weissenbach, Andreas Wollenberg, Jean-Luc Verret, Roland Heilig, Hakima Lakhdar, Ayşen Karaduman, Judith Fischer

Publikováno v: The American Journal of Human Genetics. 69(5):1002-1012

Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We previously localized a gene for a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d82abe890259a22b4d7be849d5ce295

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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

Autor: Romain Debret, Florence Jobard, Safa Saker, Odile Damour, Judith Fischer, Pascal Sommer, André Mégarbané, Stephanie Claus, Hala Mégarbané, Martine Devillers, Simone Peyrol

Publikováno v: Journal of Investigative Dermatology
Journal of Investigative Dermatology, 2008, 128 (6), pp.1442-1450. ⟨10.1038/sj.jid.5701211⟩
Journal of Investigative Dermatology, Nature Publishing Group, 2008, xxx, pp.1442-1450
Journal of Investigative Dermatology, Nature Publishing Group, 2008, 128 (6), pp.1442-1450. ⟨10.1038/sj.jid.5701211⟩

International audience; 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 autosomal-recessiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::390e54b932f72575dd3c490b2d15e713
https://hal.science/hal-02340184

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

Autor: Ronald J.A. Wanders, Turgay Coşkun, Meral Topçu, Cengiz Yalçinkayal, Sophie Halliez, Florence Jobard, Mark Lathrop, Judith Fischer, Jean-François Prud'homme, Meral Özgüç, Filiz Ozbaş Gerçeker

Publikováno v: Human molecular genetics, 13(22), 2803-2811. Oxford University Press

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 and cerebrosp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af289c1f75d4113e6d249c932c0b4ba5
https://pure.amc.nl/en/publications/l2hydroxyglutaric-aciduria-identification-of-a-mutant-gene-c14orf160-localized-on-chromosome-14q221(07e6cf88-2a71-4733-893c-710e486bfa19).html

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Mutations In Ichthyin A New Gene On Chromosome 5Q33 In A New Form Of Autosomal Recessive Congenital Ichthyosis

Autor: Judith Fischer, Ayşen Karaduman, Florence Jobard, Bakar Bouadjar, Mark Lathrop, Meral Özgüç, Jean-François Prud'homme, Caroline Lefèvre, Safa Saker

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 congenital ichthyosiform erythroderma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd86aef615f8da362053987f6f38b1b9
https://aperta.ulakbim.gov.tr/record/94701

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

Autor: Caroline Lefèvre, Bakar Bouadjar, Florence Jobard, Susan Cure, Judith Fischer, J. F. Stalder, Aude Hoffmann, Claudine Blanchet-Bardon, Jean-François Prud'homme

Publikováno v: The Journal of investigative dermatology. 117(6)

Papillon–Lefevre syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition. Mutations in the CTSC gene that encodes cathepsin C have been described in families affected wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45768e5dad6bb75ce6f90b7228f317e4
https://pubmed.ncbi.nlm.nih.gov/11886537

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

Autor: Bakar Bouadjar, Jean-François Prud'homme, Caroline Lefèvre, Ana Bakija-Konsuo, Jean Weissenbach, Judith Fischer, Mark Lathrop, Farid Ait-Belkacem, Florence Jobard, Roland Heilig, Francoise Macari, Daniel Hohl, Marcel Huber

Publikováno v: Human Molecular Genetics, vol. 10, no. 8, pp. 875-80
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Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail abnormalities. We report the refinement of our previousl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73fefe18e38d9e186aab97f7585474e3
https://pubmed.ncbi.nlm.nih.gov/11285253

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