Zobrazeno 1 - 10
of 386
pro vyhledávání: '"H, de Verneuil"'
Publikováno v:
Respiratory Medicine Case Reports, Vol 20, Iss C, Pp 64-67 (2017)
Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity in the serum and predisposes to emphysema and/or to liver disease due to accumulation of the abnormal
Externí odkaz:
https://doaj.org/article/b22fcb9ac5ee4e038b7f9efc1486df5c
Autor:
E. Guilhon, B. Quesson, F. Moraud-Gaudry, H. de Verneuil, P. Canioni, R. Salomir, P. Voisin, C. T. W. Moonen
Publikováno v:
Molecular Imaging, Vol 2 (2003)
Spatial and temporal control of transgene expression is one of the major prerequisites of efficient gene therapy. Recently, a noninvasive, physical approach has been presented based on local heat in combination with a heat-sensitive promoter. This st
Externí odkaz:
https://doaj.org/article/cf937eda651945f2b9ae93158bc10ef0
Autor:
Aurélie Bedel, François Moreau-Gaudry, Mahon Fx, Isabelle Moranvillier, François Béliveau, H. de Verneuil, Sandrine Dabernat, Isabelle Lamrissi-Garcia, L Charaf, Bruno Cardinaud
Publikováno v:
Leukemia. 31:65-74
Although tyrosine kinase inhibitors (TKIs) efficiently cure chronic myeloid leukemia (CML), they can fail to eradicate CML stem cells (CML-SCs). The mechanisms responsible for CML-SC survival need to be understood for designing therapies. Several pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e3ea9a8989b723e77212839235f6cb
https://doi.org/10.1038/leu.2016.154
https://doi.org/10.1038/leu.2016.154
Autor:
H, de Verneuil
Publikováno v:
The British journal of dermatology. 179(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::650cfb0f4168ad0ae73e15045311363c
https://pubmed.ncbi.nlm.nih.gov/28865079
https://pubmed.ncbi.nlm.nih.gov/28865079
Publikováno v:
Folia biologica. 61(6)
Porphyrias are metabolic disorders resulting from mutations in haem biosynthetic pathway genes. Hepatoerythropoietic porphyria (HEP) is a rare type of porphyria caused by the deficiency of the fifth enzyme (uroporphyrinogen decarboxylase, UROD) in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd3fe4bfaab5f67294ed3846938b9b09
https://pubmed.ncbi.nlm.nih.gov/26789143
https://pubmed.ncbi.nlm.nih.gov/26789143
Autor:
H. de Verneuil, Jacqueline Woolf, Michael Norman Badminton, Sharon D. Whatley, Jean Charles Deybach, R. P. Katugampola, S. Hanneken, Nicola G. Mason, Hervé Puy, C. Ged, Xiaoye Schneider-Yin, Alexander Vincent Anstey, Andrew Yule Finlay, E. Minder
Publikováno v:
British Journal of Dermatology. 167:888-900
Background Congenital erythropoietic porphyria (CEP) is an autosomal recessive photomutilating porphyria with onset usually in childhood, where haematological complications determine prognosis. Due to its extreme rarity and clinical heterogeneity, ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca32e10d897cf215a83a9b531135eadf
https://doi.org/10.1111/j.1365-2133.2012.11154.x
https://doi.org/10.1111/j.1365-2133.2012.11154.x
Autor:
Hervé Puy, Andrew Yule Finlay, S. Hanneken, H. de Verneuil, Jean Charles Deybach, Nicola G. Mason, Jacqueline Woolf, Sharon D. Whatley, C. Ged, Alexander Vincent Anstey, R. P. Katugampola, Michael Norman Badminton, Xiaoye Schneider-Yin, E. Minder
Publikováno v:
British Journal of Dermatology. 167:901-913
Background: Congenital erythropoietic porphyria (CEP) is an autosomal recessive cutaneous porphyria caused by decreased activity of uroporphyrinogen III synthase (UROS). Its predominant characteristics include bullous cutaneous photosensitivity to vi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32fcbd9a9415b545a374d2957e62c468
https://doi.org/10.1111/j.1365-2133.2012.11160.x
https://doi.org/10.1111/j.1365-2133.2012.11160.x
Autor:
Catherine Droitcourt, Khaled Ezzedine, H. de Verneuil, Cécile Ged, Alain Taieb, Abou Diallo, Thomas Hubiche, F. Boralevi
Publikováno v:
British Journal of Dermatology. 167:1165-1169
Summary Background Loss of function FLG alleles were first identified as causative of ichthyosis vulgaris (IV) and were subsequently found to be major predisposing factors for atopic dermatitis (AD) and atopic disorders. Objectives To identify indepe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24c641140c53abb6a3c18061cecae811
https://doi.org/10.1111/j.1365-2133.2012.11062.x
https://doi.org/10.1111/j.1365-2133.2012.11062.x
Autor:
H. de Verneuil, V. Wienert, V. Saada, Paolo Gisondi, Giampiero Girolomoni, Haur Yueh Lee, Patrick Gholam, Gregor B.E. Jemec, C. Ged, A. Langenbruch, T. Hunziker, T. Baumeister, C. Droitcourt, Helena Marzo-Ortega, Katharina Herberger, Alexander Enk, Francesco Del Galdo, Tanja Weberschock, L. Borradori, N. Dietrich, M. Augustin, V. Molinier-Frenkel, Shiva Yazdanyar, J.D. Bouaziz, Ivan Hegyi, M. Cario-André, Marie Louise Mølgaard Poulsen, Luca Borradori, C.F.E. Sänger, Sibel Zehra Aydin, V. von Felbert, P. Morel, Zoe Ash, Cathrine Jespersgaard, M. Bagot, G. Hoffmann, W. Weistenhöfer, M. Battistella, Stephan Jeff Rustenbach, D. Sibon, P.A. de Viragh, Marie Luise Bisgaard, Helmut Beltraminelli, Nikhil Yawalkar, Jacek C Szepietowski, Camilla Dalle Vedove, A. Caudron, N. Pelivani, A. Taïeb, W. Uter, M.A. Radtke, N. Ortonne, Satz Mengensatzproduktion, Matthias Augustin, E. Deslandes, B. Holland, D. Simon, K. Kernland-Lang, F. Guibal, Flemming Brandt Sørensen, D. Touboul, Nedzmidin Pelivani, Dennis McGonagle, A. Osio, J. Colin, Lena Grams, Jurr Boer, Katharina Denk, B. Kütting, Richard J. Wakefield, Gisli Ingvarsson, D. Dartsch, K. Ezzedine, H. Drexler, Theresa Larriba Harboe, C. Leclech, Elmar Schäfer, Paul Emery, C. Lok, Druck Reinhardt Druck Basel, Patrick Willems, Karl-Christian Münter, Wolfgang Tigges, Sebastian Debus
Publikováno v:
Dermatology. 222:381-384
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29bd26f948cf51ffa5a3cd43c3561d4d
https://doi.org/10.1159/000331443
https://doi.org/10.1159/000331443
Autor:
L. Verneuil, A. Acher, Cécile Ged, H. de Verneuil, D. Leroy, I Lebreuilly-Sohyer, C Clement, Anne Dompmartin, A. Morice
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 137:635-639
Resume Introduction La porphyrie erythropoietique congenitale (PEC) est une genodermatose liee a un deficit de l’activite en uroporphyrinogene III synthase, qui entraine une accumulation de porphyrines dans differents organes, dont la peau. Il s’
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97837c7824a9096218c6a888c55656a7
https://doi.org/10.1016/j.annder.2010.06.018
https://doi.org/10.1016/j.annder.2010.06.018