Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Claudine Blanchet-Bardon"'
Autor:
Raed Lattouf, Antoine Assoumou-Abroh, Ronald Younes, Didier Lutomski, Joseph Bassil, Claudine Blanchet-Bardon, Nada Naaman, Sylvie Changotade, Gaston Godeau, Karim Senni
Publikováno v:
Journal of histotechnology. 45(2)
Mutation of just a single extracellular matrix protein, a receptor or enzyme involved in connective tissue metabolism is sufficient to cause systemic pathologies and failure of tissues that are subjected to strong mechanical stresses. Skin histologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::353786e2aa2a5a0d1cbb0131f5a55d40
https://pubmed.ncbi.nlm.nih.gov/35135439
https://pubmed.ncbi.nlm.nih.gov/35135439
Autor:
Maryam Daneshpazhooh, Kambiz Kamyab Hesari, Jouni Uitto, Gérard Orth, Sarah Jill De Jong, Emmanuelle Jouanguy, Jean-Laurent Casanova, Amir Hossein Saeidian, Leila Youssefian, Hamidreza Mahmoudi, Sirous Zeinali, Hassan Vahidnezhad, Claudine Blanchet-Bardon
Publikováno v:
The Journal of investigative dermatology. 139(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae2cf0e3c447780551f99d1142c53448
https://pubmed.ncbi.nlm.nih.gov/30036492
https://pubmed.ncbi.nlm.nih.gov/30036492
Autor:
Jorge R. Toro, Akemi Ishida-Yamamoto, Amy S. Paller, Gabriele Richard, Matthias Schmuth, Hiroshi Shimizu, W. K. Jacyk, Claudine Blanchet Bardon, Pierre Vabres, Sancy A. Leachman, Michal Gina, Vinzenz Oji, Philip Fleckman, Alain Taieb, Christine Bodemer, Philippe Coudiere, Fanny Morice-Picard, Juliette Mazereeuw-Hautier, Peter M. Elias, John I. Harper, Gianluca Tadini, Emmanuelle Bourrat, Judith Fischer, Masashi Akiyama, Daniel Hohl, Mary L. Williams, Leonard M. Milstone, Hans Christian Hennies, Eli Sprecher, John J. DiGiovanna, Heiko Traupe, Anders Vahlquist, Ingrid Hausser, Takashi Hashimoto, Maurice A.M. van Steensel, Alain Hovnanian, Irene M. Leigh
Publikováno v:
Journal of the American Academy of Dermatology, 63(4), 607-641. MOSBY-ELSEVIER
Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification; typically involving the entire integument. Over the recent years, much progress has been made defining their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7352cbc0b15394fd8e972f39298dfc1f
https://doi.org/10.1016/j.jaad.2009.11.020
https://doi.org/10.1016/j.jaad.2009.11.020
Autor:
Guilherme Munhoz Essenfelder, Jérôme Lamartine, Anne Charollais, Michael T. Barbe, Roberto Bruzzone, Claudine Blanchet-Bardon, Paolo Meda, Gilles Waksman
Publikováno v:
Human Molecular Genetics. 13:1703-1714
Clouston syndrome or hidrotic ectodermal dysplasia (HED) is a rare dominant genodermatosis characterized by palmoplantar hyperkeratosis, generalized alopecia and nail defects. The disease is caused by mutations in the human GJB6 gene which encodes th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82195ed170c44d2740b68744939d1f5f
https://doi.org/10.1093/hmg/ddh191
https://doi.org/10.1093/hmg/ddh191
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
https://doi.org/10.1093/hmg/11.1.107
Autor:
Susan Cure, Judith Fischer, Serap Emre, Jean Weissenbach, Meral Özgüç, Claudine Blanchet-Bardon, Jean-François Prud'homme, Alexandra Faure, Bakar Bouadjar, Isabelle Thomas, Ayşen Karaduman
Publikováno v:
The American Journal of Human Genetics. 66:904-913
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ichthyosis (LI) and nonbullous con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed15383b1a194b4c3feba56d1d27b45c
https://doi.org/10.1086/302814
https://doi.org/10.1086/302814
Autor:
Jean-Paul Ortonne, Guerrino Meneguzzi, Angela M. Christiano, Jouni Uitto, Leena Pulkkinen, Claudine Blanchet-Bardon, Yili Xu, John A. McGrath
Publikováno v:
Journal of Investigative Dermatology. 109:232-237
Junctional forms of epidermolysis bullosa (JEB) are characterized by tissue separation at the level of the lamina lucida. We have recently disclosed specific mutations in the LAMA3, LAMB3, and LAMC2 genes encoding the subunit polypeptides of the anch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0fb58a536061cad0619c998daa9b13a
https://doi.org/10.1111/1523-1747.ep12319752
https://doi.org/10.1111/1523-1747.ep12319752
Autor:
Louis Dubertret, Jean Weissenbach, Sylvie Marchand, Laurent Parmentier, Claudine Blanchet-Bardon, Hakima Lakhdar
Publikováno v:
Human Molecular Genetics. 5:555-559
Lamellar ichthyosis (LI) is an inherited autosomal recessive disorder of cornification. It was recently demonstrated to result from deleterious mutations in the transglutaminase 1 (TGM1) gene. However, the disease was shown to be genetically heteroge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72888bf25d04818653715c4b9ab421d8
https://doi.org/10.1093/hmg/5.4.555
https://doi.org/10.1093/hmg/5.4.555