Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Marie‐Pierre Audrezet"'
Autor:
Cyril Leven, Sacha Schutz, Marie-Pierre Audrezet, Emmanuel Nowak, Laurent Meijer, Tristan Montier
Publikováno v:
Pharmaceutics, Vol 12, Iss 11, p 1087 (2020)
Roscovitine (Seliciclib), a new protein kinase inhibitor, was administered orally to adult patients with cystic fibrosis for the first time in the ROSCO-CF trial, a dose-escalation, phase IIa, randomized, controlled trial. Extensive pharmacokinetic s
Externí odkaz:
https://doaj.org/article/8cb0c141079540e792e4ea85827d725c
Autor:
Penelope Jordan, Guillaume Dorval, Christelle Arrondel, Vincent Morinière, Carole Tournant, Marie‐Pierre Audrezet, Laurence Michel‐Calemard, Audrey Putoux, Gaethan Lesca, Audrey Labalme, Sandra Whalen, Laurence Loeuillet, Jelena Martinovic, Tania Attie‐Bitach, Bettina Bessières, Elise Schaefer, Sophie Scheidecker, Laetitia Lambert, Claire Beneteau, Olivier Patat, Odile Boute‐Benejean, Arnaud Molin, Fabien Guimiot, Nicolas Fontanarosa, Mathilde Nizon, Mathilde Lefebvre, Cécile Jeanpierre, Sophie Saunier, Laurence Heidet
Publikováno v:
Human Mutation. 43:347-361
We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling. The percentage of variants explai
Akademický článek
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Autor:
Bernhard, Steiner, Jonas, Rosendahl, Heiko, Witt, Niels, Teich, Volker, Keim, Hans-Ulrich, Schulz, Roland, Pfützer, Matthias, Löhr, Matthias, Lühr, Thomas M, Gress, Renate, Nickel, Olfert, Landt, Monika, Koudova, Milan, Macek, Antoni, Farre, Teresa, Casals, Marie-Claire, Desax, Sabina, Gallati, Macarena, Gomez-Lira, Marie Pierre, Audrezet, Claude, Férec, Marie, des Georges, Mireille, Claustres, Kaspar, Truninger
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2011, 32 (8), pp.912-920. ⟨10.1002/humu.21511⟩
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Human Mutation, Wiley, 2011, 32 (8), pp.912-920. ⟨10.1002/humu.21511⟩
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common
Autor:
Stéphanie Moisan, Stéphanie Levon, Emilie Cornec-Le Gall, Yannick Le Meur, Marie-Pierre Audrézet, Josée Dostie, Claude Férec
Publikováno v:
BMC Genomics, Vol 19, Iss 1, Pp 1-13 (2018)
Abstract Background Cis-regulatory elements control gene expression over large distances through the formation of chromatin loops, which allow contact between enhancers and gene promoters. Alterations in cis-acting regulatory systems could be linked
Externí odkaz:
https://doaj.org/article/f75d895631f845d4a7223400e91412bc
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e73522 (2013)
Idiopathic chronic pancreatitis (ICP) has traditionally been defined as chronic pancreatitis in the absence of any obvious precipitating factors (e.g. alcohol abuse) and family history of the disease. Studies over the past 15 years have revealed that
Externí odkaz:
https://doaj.org/article/47ec5705ce2f49cd8d390b36029ce6dc
Akademický článek
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Autor:
Delphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, Claude Ferec, Thierry Bienvenu, Marie Desgeorges, Mireille Claustres, Hervé Mittre, Martine Blayau, Dominique Bozon, Marie-Claire Malinge, Nicole Monnier, Jean-Paul Bonnefont, Albert Iron, Eric Bieth, Viviane Dumur, Christine Clavel, Cécile Cazeneuve, Emmanuelle Girodon
Publikováno v:
Human Mutation; Oct2003, Vol. 22 Issue 4, p340, 1p