Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jean-Louis Bonafé"'
Autor:
J. Mazereeuw, Alain Hovnanian, Jean-Louis Bonafé, Laurence Barrié, Ludovic Martin, Sonia Nizard, Nicolas Chassaing, Patrick Calvas
Publikováno v:
Journal of Investigative Dermatology. 122(3):608-613
Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, and cardiovascular findings. We studied a cohort o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f74b337ba9074ad432ec960024559a8a
Autor:
Juliette Mazereeuw-Hautier, K. Scharffetter-Kochanek, Stamatis Gregoriou, Efstratios Patsouris, Li-Cheng Yang, Ludwine Messiaen, Jürgen Bauer, Tadashi Tezuka, C. Sunderkötter, Claudia Vente, S. Tajima, M. Heenen, I. Fumal, L.T. Sumanovski, Gérald Pierard, B.R. Yelikar, Claudine Piérard-Franchimont, Thomas Eigentler, Rudolf Happle, Christine Neumann, Keiko Hashimoto, T. Simonart, Rieko Isogai, Kyriaki Aroni, P.L. Bigliardi, Ignacio García-Doval, Rainer Rupprecht, Vito Ingordo, Akihisa Kanamaru, Luigi Naldi, B. Kreft, Yasuhiro Maeda, Y. Ohnishi, Stefania Fracchiolla, Andreas C. Lazaris, Arun C Inamadar, Hiroyuki Suzuki, M. Bigliardi-Qi, Ralph M. Trüeb, Pascale Quatresooz, Caroline van den Broecke, Aparna Palit, M. Grassi, R. Hinrichs, Tetsutaro Sata, Hiroyuki Hara, I. Uhoda, Carlo Tomasini, Emmanouil Agapitos, Sandra Janssens, T. Komatsu, Ulrich M. Caroli, Manuel Cruces, Nikoleta Zakopoulou, Mario Pippione, Toshihiko Matsukura, Akira Kawada, Bruno Colecchia, Wei-Hsin Juan, S. Büchner, T. Rufli, J. Rampf, Jean-Louis Bonafé, M. Merkel, Ayano Honda, Gisela Metzler, Hong-Shang Hong, Frank C. Powell, M. Yajima, Panagiotis G. Stavropoulos, N. Fujimoto, Eugenia Tsagroni, Peter Radny, Hans Bertsch, Jean-Marie Naeyaert, W.C. Marsch, George Kontochristopoulos, A. Kamin, Claus Garbe, A. Essig, J. Wohlrab, Yoshinori Aragane, Sofie De Schepper
Publikováno v:
Dermatology. 209:254-270
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b145b016d84301cd53ffc760d2edae06
https://doi.org/10.1159/000079905
https://doi.org/10.1159/000079905
Publikováno v:
Pediatric Dermatology. 19:506-509
Cutis marmorata telangiectatica congenita (CMTC) is defined as a localized or generalized reticulated, blue-violet vascular network in skin that is present at birth. The evolution is characterized by rapid improvement within 2 years. Rarely the lesio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d486afcb2d6696de6bad0d408518d81
https://doi.org/10.1046/j.1525-1470.2002.00220.x
https://doi.org/10.1046/j.1525-1470.2002.00220.x
Autor:
Christine Bodemer, Marc Larrègue, Alain Hovnanian, Yves de Prost, D. Teillac, Stephane Chavanas, Yoshihiko Mitsuhashi, John I. Harper, John D Wilkinson, Jean-Louis Bonafé, Lon R. Cardon, David P. Kelsell, Irene M. Leigh, Mauro Paradisi, Mohsin Ali, Alain Taieb, Chad Garner, Shin-ichi Ansai
Publikováno v:
The American Journal of Human Genetics. 66:914-921
Netherton syndrome (NS [MIM 256500]) is a rare and severe autosomal recessive disorder characterized by congenital ichthyosis, a specific hair-shaft defect (trichorrhexis invaginata), and atopic manifestations. Infants with this syndrome often fail t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b06d1b23967fec1a71a8b12b89af312d
https://doi.org/10.1086/302824
https://doi.org/10.1086/302824
Autor:
Jean-Louis Bonafé, Carol E. Anderson, Pierre Vabres, Didier Lacombe, Alain Taieb, Linda G. Rabinowitz, Marie-Claude Hors-Cayla, Gérard Aubert
Publikováno v:
Journal of Investigative Dermatology. 105:87-91
Bazex-Dupré-Christol syndrome is an inherited condition with skin cancer predisposition characterized by follicular atrophoderma, hypotrichosis, and early onset of multiple basal cell carcinomas. Previous reports suggested an X-linked mode of inheri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d60214b784f862bd9f3fedd6f3a9ed7
https://doi.org/10.1111/1523-1747.ep12313359
https://doi.org/10.1111/1523-1747.ep12313359
Publikováno v:
Pediatric dermatology. 21(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d87d558a6423c53083e490f08cf58030
https://pubmed.ncbi.nlm.nih.gov/15283816
https://pubmed.ncbi.nlm.nih.gov/15283816
Publikováno v:
Dermatology. 209:237-238
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::986c6845a34f68297598e34e9ca691cf
https://doi.org/10.1159/000079898
https://doi.org/10.1159/000079898
Autor:
Yann Barrandon, M Ali, Christine Bodemer, John D Wilkinson, Alain Taieb, Stephane Chavanas, Y. De Prost, John I. Harper, Alain Hovnanian, Ariane Rochat, D. Hamel-Teillac, Alan D. Irvine, Jean-Louis Bonafé
Publikováno v:
Nature Genetics. 25:141-142
We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742e1d50607fd8ed22017ef480f5c501
https://doi.org/10.1038/75977
https://doi.org/10.1038/75977
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