Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Françoise Houdayer"'
Autor:
Christophe GAULD, Alice POISSON, Julie REVERSAT, Elodie PEYROUX, Françoise HOUDAYER-ROBERT, Massimiliano ROSSI, Gaetan LESCA, Damien SANLAVILLE, Caroline DEMILY
Publikováno v:
BMC Psychiatry, Vol 21, Iss 1, Pp 1-11 (2021)
Abstract Background Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature. This phenot
Externí odkaz:
https://doaj.org/article/e46caa96fbbc4e0ab58e7ad30e9a30ff
Publikováno v:
Revue française d'éthique appliquée. :99-112
Le xxie siecle signe l’entree dans l’ere de la medecine genomique qui vehicule la promesse d’une medecine personnalisee susceptible de transformer le paradigme medical et d’offrir a l’avenir des soins sur mesure, a la fois en termes de diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c482c355f41ab32a1c75d7c51a3d69a7
https://doi.org/10.3917/rfeap.010.0099
https://doi.org/10.3917/rfeap.010.0099
Publikováno v:
Corps & Psychisme. :49-62
Les progres vertigineux des biotechnologies font emerger la promesse d’une medecine genomique personnalisee du XXIe siecle dont nous decrirons les enjeux societaux, ethiques et psychologiques. A partir d’un cas clinique, nous montrerons que l’i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3debb2a24b6220ae682518d6875dfd6a
https://doi.org/10.3917/cpsy2.075.0049
https://doi.org/10.3917/cpsy2.075.0049
Autor:
Alice Poisson, Françoise Houdayer-Robert, Christophe Gauld, Caroline Demily, Massimiliano Rossi, Damien Sanlaville, Elodie Peyroux, Gaetan Lesca, Julie Reversat
Publikováno v:
BMC Psychiatry
BMC Psychiatry, 2021, 21, pp.360. ⟨10.1186/s12888-021-03342-8⟩
BMC Psychiatry, BioMed Central, 2021, 21, pp.360. ⟨10.1186/s12888-021-03342-8⟩
BMC Psychiatry, Vol 21, Iss 1, Pp 1-11 (2021)
BMC Psychiatry, 2021, 21, pp.360. ⟨10.1186/s12888-021-03342-8⟩
BMC Psychiatry, BioMed Central, 2021, 21, pp.360. ⟨10.1186/s12888-021-03342-8⟩
BMC Psychiatry, Vol 21, Iss 1, Pp 1-11 (2021)
Background Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature. This phenotype is th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9c98e9d2d773174db6df88b55d48620
https://www.hal.inserm.fr/inserm-03306601/document
https://www.hal.inserm.fr/inserm-03306601/document
Autor:
Françoise Houdayer
Publikováno v:
Contraste. :59-79
Dans notre societe, la montee en puissance de la medecine moderne scientifique, avec l’avenement de hautes technologies, semble laisser de moins en moins de place au hasard et alimente l’illusion du tout identifiable et du tout guerissable. Dans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17b6ee149222240439a761c8d63fc366
https://doi.org/10.3917/cont.047.0059
https://doi.org/10.3917/cont.047.0059
Autor:
Elodie Gautier, Sophie Nambot, Julien Thevenon, Yannis Duffourd, Massimiliano Rossi, Aurore Pélissier, Damien Sanlaville, Christel Thauvin-Robinet, F. Mohrez, Laurence Faivre, Christine Binquet, Françoise Houdayer, Sophie Béjean, Laurent Demougeot, Christine Peyron
Publikováno v:
Archives de Pédiatrie. 25:77-83
Introduction The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two qu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::174ee849fd68b62ae32c1f717d1babc9
https://doi.org/10.1016/j.arcped.2017.12.006
https://doi.org/10.1016/j.arcped.2017.12.006
Autor:
Julien Thevenon, Sophie Dupuis-Girod, Pierre Ancet, Aurélie Godard, Lorraine Joly, Aurore Pélissier, Christine Juif, Audrey Putoux, Laurence Faivre, Elodie Cretin, Elodie Gautier, Gaetan Lesca, Dominique Salvi, Paulette Morin, Yannis Duffourd, Alice Masurel, Christel Thauvin-Robinet, Olivier Putois, Nolwenn Jean-Marçais, Christine Peyron, Aline Chassagne, Françoise Houdayer, Daphné Lehalle, Marie-Pierre Cordier, D Sanlaville, Massimiliano Rossi, Sophie Béjean, Sarah Kidri, Anne-Sophie Lapointe, Jean-Baptiste Rivière, Patrick Edery, Marianne Till
Publikováno v:
Eur J Hum Genet
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ac94ba50f218916eff8c6631747399e
https://europepmc.org/articles/PMC6461801/
https://europepmc.org/articles/PMC6461801/
Autor:
L. Joly, Marie Lise Babonneau, Anne-Sophie Lapointe, Christel Thauvin-Robinet, S. Delanoue, Laurence Faivre, D Sanlaville, Elodie Gautier, Patrick Edery, H. Chaumet, Christine Juif, Olivier Putois, Françoise Houdayer, C.C. Michon, Philippe Charron, Aline Chassagne, Marcela Gargiulo, S. Staraci, Elodie Cretin
Publikováno v:
European journal of medical genetics. 62(10)
Access to active search for actionable secondary findings (SF) in diagnostic practice is a major psychological and ethical issue for genomic medicine. In this study, we analyzed the preferences of patients and their families regarding SF and identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ceb1441df753195a286f2ce8243b83
https://pubmed.ncbi.nlm.nih.gov/31265899
https://pubmed.ncbi.nlm.nih.gov/31265899
Autor:
Elodie Gautier, David Geneviève, V. Goussot, A.S. Lapointe, Aurore Pélissier, Marc Bardou, C. Sawka, C. Thauvin-Robinet, Laurence Faivre, François Ghiringhelli, Elodie Cretin, F. Tran Mau-Them, Damien Sanlaville, G. Bertolone, R. Boidot, Catherine Lejeune, Christine Binquet, Julian Delanne, Antonio Vitobello, Ange-Line Bruel, A. Baurand, Yannis Duffourd, Maxime Luu, Christine Peyron, Christine Juif, Aline Chassagne, Laurent Demougeot, Christophe Philippe, Sophie Nambot, Olivier Putois, Françoise Houdayer, Julien Thevenon, L. Joly, P. Pujol, C. Vernin
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, In press, ⟨10.1016/j.ejmg.2018.08.010⟩
European Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.010⟩
European Journal of Medical Genetics, Elsevier, In press, ⟨10.1016/j.ejmg.2018.08.010⟩
European Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.010⟩
IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e94d5ddd39704764c8c5e91f040a57
https://doi.org/10.1016/j.ejmg.2018.08.010
https://doi.org/10.1016/j.ejmg.2018.08.010