Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Bénédicte de Fréminville"'
Autor:
Aurore Curie, Amandine Brun, Anne Cheylus, Anne Reboul, Tatjana Nazir, Gérald Bussy, Karine Delange, Yves Paulignan, Sandra Mercier, Albert David, Stéphanie Marignier, Lydie Merle, Bénédicte de Fréminville, Fabienne Prieur, Michel Till, Isabelle Mortemousque, Annick Toutain, Eric Bieth, Renaud Touraine, Damien Sanlaville, Jamel Chelly, Jian Kong, Daniel Ott, Behrouz Kassai, Nouchine Hadjikhani, Randy L Gollub, Vincent des Portes
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0149717 (2016)
BACKGROUND:Intellectual Disability (ID) is characterized by deficits in intellectual functions such as reasoning, problem-solving, planning, abstract thinking, judgment, and learning. As new avenues are emerging for treatment of genetically determine
Externí odkaz:
https://doaj.org/article/eff7ff0e7b314ab4a5f62e676d4d5faf
Autor:
Clémentine Ripoll, Isabelle Rivals, Emilie Ait Yahya-Graison, Luce Dauphinot, Evelyne Paly, Clothilde Mircher, Aimé Ravel, Yann Grattau, Henri Bléhaut, André Mégarbane, Guy Dembour, Bénédicte de Fréminville, Renaud Touraine, Nicole Créau, Marie Claude Potier, Jean Maurice Delabar
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e41616 (2012)
Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular septal defect (AVSD) and less frequently a ventricular septal defect (VSD) or atrial septal defect (ASD). Lymphoblastoid cell lines (LCLs) were establish
Externí odkaz:
https://doaj.org/article/61fc4e0889fa44edbfb11babca003653
Autor:
Iulia Ioan, Diane Weick, François Sevin, Damien Sanlaville, Bénédicte De Fréminville, Cyril Schweitzer, Mohamed Akkari, Laurianne Coutier, Benjamin Putois, Sabine Plancoulaine, Marine Thieux, Patricia Franco
Publikováno v:
Sleep medicine. 100
Obstructive sleep apnea syndrome (OSAS) treatment has been shown to improve cardiac behavioral and cognitive functions in typically developing children. Early OSAS diagnosis in children with Down syndrome (DS) would be important to prevent its compli
Autor:
Laurianne Coutier, Damien Sanlaville, Cyril Schweitzer, Patricia Franco, Mohamed Akkari, Diane Whitney, Benjamin Putois, Bénédicte de Fréminville, François Sevin, Iulia Ioan, Marine Thieux
Publikováno v:
J Clin Sleep Med
STUDY OBJECTIVES: Children with Down syndrome (DS) are at risk of obstructive sleep apnea (OSA), but the access to sleep lab polysomnography (PSG) is limited. Simplified techniques are needed, such as polygraphy coupled with pulse transit time (PTT-P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03b695d808a9951417cbc86567bfeb2d
https://europepmc.org/articles/PMC8807910/
https://europepmc.org/articles/PMC8807910/
Autor:
Renaud Touraine, Damien Sanlaville, M. Till, Anne Reboul, Jian Kong, Randy L. Gollub, Annick Toutain, Nouchine Hadjikhani, Daniel Ott, S. Marignier, Lydie Merle, Karine Delange, Albert David, Yves Paulignan, Isabelle Mortemousque, Behrouz Kassai, Sandra Mercier, Gérald Bussy, Tatjana A. Nazir, Anne Cheylus, Eric Bieth, Vincent des Portes, Bénédicte de Fréminville, Aurore Curie, Jamel Chelly, Fabienne Prieur, Amandine Brun
Publikováno v:
PLoS ONE
PLoS ONE, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩
PLoS ONE, Vol 11, Iss 2, p e0149717 (2016)
PLoS ONE, Public Library of Science, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩
PLoS ONE, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩
PLoS ONE, Vol 11, Iss 2, p e0149717 (2016)
PLoS ONE, Public Library of Science, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩
International audience; BackgroundIntellectual Disability (ID) is characterized by deficits in intellectual functions such as reasoning, problem-solving, planning, abstract thinking, judgment, and learning. As new avenues are emerging for treatment o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61be6a5096a64609cbfed59cd8bd3b1
https://doi.org/10.1371/journal.pone.0149717
https://doi.org/10.1371/journal.pone.0149717
Publikováno v:
American Journal on Intellectual and Developmental Disabilities
American Journal on Intellectual and Developmental Disabilities, American Association on Intellectual and Developmental Disabilities Allen Press, Inc., 2015, 120 (1), pp.3-15. ⟨10.1352/1944-7558-120.1.3⟩
American Journal on Intellectual and Developmental Disabilities, American Association on Intellectual and Developmental Disabilities Allen Press, Inc., 2015, 120 (1), pp.3-15. ⟨10.1352/1944-7558-120.1.3⟩
The aim of this cross-sectional study was to analyze the typical aging process in adults with Down syndrome, focusing on its variability. The sample comprised 120 adults with Down syndrome who were free of dementia. Ages ranged from 20 to 69 years. E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e680fb776e52ac1f5cdd2eda1916522b
https://hal.archives-ouvertes.fr/hal-01786983
https://hal.archives-ouvertes.fr/hal-01786983
Autor:
Mireille Cossée, Catherine Chiron, Aurore Curie, Damien Sanlaville, Thierry Bienvenu, Caroline Rooryck-Thambo, Philippe Briot, Karine Poirier, S. Marignier, Anne de Saint Martin, Sophie Bertrand, Isabelle Mortemousque, Didier Lacombe, Nouchine Hadjikhani, Silvia Sacco, Amandine Brun, Randy L. Gollub, Christophe Philippe, Jamel Chelly, Karine Delange, Gérald Bussy, Alice C. Roy, Bruno Leheup, Yves Paulignan, Isabelle Souville, Fanny Rochefort, Jian Kong, Renaud Touraine, Brigitte Gilbert-Dussardier, Fabienne Prieur, Annick Toutain, Eric Bieth, Didier Kauffmann, Tatjana A. Nazir, Isabelle Bobillier-Chaumont, M. Till, Anne Reboul, Vincent Laugel, Sonya Freeman, Anne Cheylus, Vincent des Portes, Bénédicte de Fréminville
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9, pp.25. 〈10.1186/1750-1172-9-25〉
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9, pp.25. 〈10.1186/1750-1172-9-25〉
International audience; BACKGROUND: The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78656f55bc69e515a3565536ddae94c0
https://hal.science/hal-01020483/document
https://hal.science/hal-01020483/document
Autor:
Mohamed Akkari, Damien Sanlaville, Bénédicte de Fréminville, Patricia Franco, Diane Weick, François Sevin
Publikováno v:
Médecine du Sommeil. 13:2
Objectif Evaluer l’impact d’un syndrome d’apnees obstructives du sommeil (SAOS) et de son traitement sur les performances cognitivo-comportementales chez une population d’enfants porteurs de Trisomie 21 (T21). Methodes Au total, 54 enfants (3
Publikováno v:
Pediatric dermatology. 31(1)
Melanoma has rarely been reported in people with Down syndrome, and its frequency in this condition has not been clearly established. We report a 19-year-old woman with Down syndrome and lumbar melanoma. This possible association must be kept in mind
Autor:
Emilie Ait Yahya-Graison, Marie-Claude Potier, R. Touraine, Guy Dembour, Luce Dauphinot, André Mégarbané, Nicole Créau, Evelyne Paly, Jean-Maurice Delabar, Clémentine Ripoll, Aimé Ravel, Bénédicte de Fréminville, Isabelle Rivals, Yann Grattau, Clothilde Mircher, Henri Bléhaut
Publikováno v:
PLoS ONE, Vol. 7, no. 8 (2012)
PLoS ONE
PLoS ONE, Vol 7, Iss 8, p e41616 (2012)
PLoS ONE
PLoS ONE, Vol 7, Iss 8, p e41616 (2012)
Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular septal defect (AVSD) and less frequently a ventricular septal defect (VSD) or atrial septal defect (ASD). Lymphoblastoid cell lines (LCLs) were establish
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ce1f85fdd6ad1b9267c5a1183cbbf11
https://hdl.handle.net/2078.1/164032
https://hdl.handle.net/2078.1/164032