Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Anne-Sophie Lapointe"'
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Akademický článek
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey
Autor: Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, Nadia Belmatoug
Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expectancy, and a successf
Externí odkaz: https://doaj.org/article/8505fbb97e2847ea9c50de0114925eb6
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2
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey
Autor: Samia Pichard, Marc G. Berger, Armelle Arnoux, Nadia Belmatoug, Delphine Genevaz, Brigitte Chabrol, François Feillet, François Labarthe, Anaïs Brassier, Yvann Frigout, Gilles Chatellier, Anne-Sophie Lapointe, Bénédicte Héron, Catherine Marcel
Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2022, 17 (1), pp.68. ⟨10.1186/s13023-022-02232-w⟩
Background Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expectancy, and a successful TCA ca
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9a257dcbce5735de216178ce0195f26
https://hal.uca.fr/hal-03737534
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5
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
Autor: Daniel Zarca, Anne-Paule Gimenez-Roqueplo, Carole Corsini, Dominique Vaur, Nelly Burnichon, Sylviane Olschwang, Christian Hervé, Stéphane Richard, Virginie Galibert, Pascal Pujol, Nadem Soufir, Thierry Frebourg, I. Raingeard, Pierre Vande Perre, Sophie Giraud, Laurence Faivre, Xavier Rebillard, Michèle Anahory, Damien Sanlaville, Olivier Ingster, Muriel Le Bidan, Marc Spielmann, Alain Toledano, Anne Cambon-Thomsen, Brigitte Bressac-de Paillerets, Elisabeth Luporsi, Bernard Baertschi, David Azria, Olivier Cussenot, Pascal Hammel, Noëlle Bastide, Karen Baudry, Isabelle Coupier, Olivier Putois, Arash Rafii, Jean-Philippe Spano, Joseph Gligorov, Sarah Amar, Caroline Zorn, Patricia Niccoli, Michèle Vintraud, Anne-Sophie Lapointe, Olivier Caron, Jean-Marc Rey, David Geneviève, Pierre Le Coz
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 2018, 26 (12), pp.1732-1742. ⟨10.1038/s41431-018-0224-1⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (12), pp.1732-1742. ⟨10.1038/s41431-018-0224-1⟩
IF 3.636 (2017); International audience; In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to important
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fe39cbca491f5aa5df412a9e2133e01
https://hal.umontpellier.fr/hal-01870352
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6
Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives
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
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7
Ethical management in the constitution of a European database for leukodystrophies rare diseases
Autor: Diane d'Audiffret, Odile Boespflug-Tanguy, Boris Loeve, Grégoire Moutel, Ingrid Callies, Nathalie Duchange, Anne-Sophie Lapointe, S. Darquy
Publikováno v: European Journal of Paediatric Neurology; Vol 18
European Journal of Paediatric Neurology, Elsevier, 2014, epub ahead of print. <10.1016/j.ejpn.2014.04.002>
European Journal of Paediatric Neurology
HEALTH FP7 Publications Database
INRIA a CCSD electronic archive server
European Journal of Paediatric Neurology, Elsevier, 2014, 18 (5), pp.597-603. ⟨10.1016/j.ejpn.2014.04.002⟩
International audience; BACKGROUND: The EU LeukoTreat program aims to connect, enlarge and improve existing national databases for leukodystrophies (LDs) and other genetic diseases affecting the white matter of the brain. Ethical issues have been pla
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b2b2d69b6f775a27778acbd85124373
http://www.hal.inserm.fr/inserm-00995366
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8
Table ronde 6 - Quelles sont les responsabilités de la société vis-à-vis des personnes atteintes de maladies rares ?
Autor: Gilles Roche, Vololona Rabeharisoa, Florence Bordon-Pallier, Brigitte Chabrol, Anne-Sophie Lapointe, Pierre Le Coz
Publikováno v: médecine/sciences
médecine/sciences, EDP Sciences, 2016, RARE 2015 – Les maladies rares : quelles attentes et quels enjeux pour la société ? 4e édition (Montpellier, France, 26 et 27 novembre 2015) 32 (Hors série n°1), pp.48-54. ⟨10.1051/medsci/201632s112⟩
médecine/sciences, 2016, RARE 2015 – Les maladies rares : quelles attentes et quels enjeux pour la société ? 4e édition (Montpellier, France, 26 et 27 novembre 2015) 32 (Hors série n°1), pp.48-54. ⟨10.1051/medsci/201632s112⟩
International audience
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::430a08ca7182f450c6b412fac755a4bc
https://hal.archives-ouvertes.fr/hal-01436197
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9
Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project.: Survey assessing data sharing in leukodystrophies
Autor: Samia Guerroui, Nathalie Duchange, S. Darquy, Diane d'Audiffret, Odile Boespflug-Tanguy, Anne-Sophie Lapointe, Marie-Louise Vendeville, Julie Champagnat, Grégoire Moutel
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (3), pp.338-43. ⟨10.1038/ejhg.2015.115⟩
International audience; The purpose of this study was to explore patient and family views on the sharing of their medical data in the context of compiling a European leukodystrophies database. A survey questionnaire was delivered with help from refer
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b0427536af0f6c80e977c4188081ec5
https://www.hal.inserm.fr/inserm-01179381
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