Zobrazeno 81 - 90
of 189
pro vyhledávání: '"Frédéric Huet"'
Autor:
Benoit Daubail, Mondher Chouchane, Norbert Khayat, M. Giroud, Emelyne Muzard, Frédéric Huet, Maurice Giroud, Véronique Darmency-Stamboul, Yannick Béjot, Eric Berger, Elisabeth Medeiros de Bustos, Laurence Faivre, Alice Masurel, Thierry Moulin, Christel Thauvin-Robinet
Publikováno v:
European neurology. 73(1-2)
Background: This study aimed to evaluate the clinical symptoms of Angelman syndrome (AS) in adults and to identify the neurological pathways affected in this disease. AS is a neurogenetic disorder resulting due to the deletion or inactivation of the
Autor:
Laurence Faivre, Delphine Héron, L. Van Maldergem, Anne Donzel, Veronica Cusin, D. Devys, Christel Thauvin-Robinet, Annick Toutain, Yves Alembik, Paul Sagot, Geert Mortier, Valérie Layet, Eric Bieth, Mireille Cossée, Valérie Cormier-Daire, Jean-Raymond Teyssier, Albert David, Philippe Parent, Alice Goldenberg, A M Bouvier, Frédéric Huet
Publikováno v:
Journal of Medical Genetics. 43:54-61
Oral–facial–digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, a
La croissance des filles suivies pour mucoviscidose de 8 à 20 ans : les données du registre français
Publikováno v:
Archives de Pédiatrie. 20:H81-H83
Autor:
Frédéric Huet, Lucie Gueneau, Christel Thauvin-Robinet, Jean-Michel Pinoit, Patrick Callier, Laurence Faivre, Francine Mugneret, C. Henry, Muriel Payet, Nathalie Marle, Philippe Jonveaux, Mylène Valduga, Mylène Béri-Deixheimer, Nathalie Lagarde, Clémence Ragon, Anne-Laure Mosca-Boidron
Publikováno v:
American Journal of Medical Genetics Part A. 161:1505-1507
Publikováno v:
Pediatric Infectious Disease Journal. 23:1081-1085
The efficacy of palivizumab prophylaxis after bronchopulmonary dysplasia (BPD) has been demonstrated in a single placebo-controlled trial. Concern has emerged about the degree of efficacy of palivizumab. This study was designed to determine the effic
Autor:
Patrick Callier, Veronica Cusin, Josephine Borgnon, Emmanuel Gounot, Emmanuel Sapin, Laurence Faivre, Frédéric Huet, Philippe Khau Van Kien, Christel Thauvin-Robinet, Francine Mugneret, Keith L. Parker, Marc Fellous
Publikováno v:
American Journal of Medical Genetics. :303-307
Cloacal exstrophy is a rare malformation, belonging to a spectrum of birth defects, which, in order of severity, includes phallic separation with epispadias, pubic diastasis, bladder exstrophy, and cloacal exstrophy. This malformation overlaps the OE
Autor:
Ana Belinda Campos-Xavier, Patricia Lewin, Christel Thauvin-Robinet, Martine Le Merrer, Jean-François Couailler, Laurence Faivre, J. Bonaventure, Catherine François, Frédéric Huet, Jean-Vital De Monléon
Publikováno v:
American Journal of Medical Genetics Part A. :81-84
Publikováno v:
Hormone Research in Paediatrics. 60:10-17
Growth hormone (GH) deficiency is a rare disease in very young children and a challenge to the physician in terms of clinical recognition, diagnosis and treatment. Here, we review the available information regarding substitution of GH and other pitui
Publikováno v:
Life Sciences. 71:779-787
The acute renal effects of hypoxemia and the ability of the co-administration of an angiotensin converting enzyme inhibitor (perindoprilat) and an adenosine receptor antagonist (theophylline) to prevent these effects were assessed in anesthetized and
Autor:
Stylianos E. Antonarakis, Christel Thauvin-Robinet, Marilyn D. Resh, Laurence Faivre, Sandy Lambert, Isabelle Stévant, Christèle Desdoits-Lethimonier, Hiroshi Kurosaka, Paul A. Trainor, Federico Santoni, Christelle Borel, Bernard Jégou, Armine Matevossian, Antoine Rolland, Serge Nef, Frédéric Huet, Pierre Calvel, Françoise Kühne, Jadwiga Jaruzelska, Béatrice Conne, Patrick Callier, Séverine Mazaud-Guittot, Periklis Makrythanasis, Pascal Bernard, Céline Zimmermann, Michel Guipponi, Anne Vannier, Dagmar Wilhelm, Francine Mugneret
Publikováno v:
PLoS Genet, vol. 10, no. 5, pp. e1004340
PLoS Genetics
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLOS Genetics, Vol. 10, No 5 (2014) P. e1004340
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. 〈10.1371/journal.pgen.1004340〉
PLoS Genetics, Vol 10, Iss 5, p e1004340 (2014)
PLoS Genetics, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLoS Genetics
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLOS Genetics, Vol. 10, No 5 (2014) P. e1004340
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. 〈10.1371/journal.pgen.1004340〉
PLoS Genetics, Vol 10, Iss 5, p e1004340 (2014)
PLoS Genetics, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multime
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fd6b266f4ab586b836727c4f09cfaa
https://serval.unil.ch/resource/serval:BIB_359C54BAB25D.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_359C54BAB25D.P001/REF.pdf