Zobrazeno 1 - 10 of 38 pro vyhledávání: '"S. Marignier"'
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Akademický článek
Early screening of autism spectrum disorder in general and pediatric practices, nurseries and early child care centers: Kitcat french study protocol using a two-stage procedure
Autor: S. Marignier, N. Touil, F. Subtil, M. El Jani, S. Mardirossian, S. Gaillard, B. Kassai, S. Sonie
Publikováno v: European Psychiatry, Vol 64, Pp S155-S155 (2021)
Introduction Early screening of children at-risk to develop Autism Spectrum Disorder (ASD) needs to be improved to propose early interventions. This detection should allow diagnosis of ASD before the age of 3. An early screening performed at the gene
Externí odkaz: https://doaj.org/article/295bd36579f340a399e09f31b18198e0
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A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients
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⟩
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
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Hémiparésie aiguë révélatrice d’une neuroborréliose chronique chez un enfant
Autor: L. Guibaud, C. Roure-Sobas, V. des Portes, L. Lion-François, S. Marignier, C. Rénard, Y. Gillet
Publikováno v: Archives de Pédiatrie. 15:41-44
Resume Nous rapportons le cas d’un garcon de 11 ans qui a presente 2 episodes d’hemiparesie droite en 1 mois revelant une maladie de Lyme. Depuis 1 an, il se plaignait d’asthenie et de cephalees. Le diagnostic de neuroborreliose a ete porte mal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::54dab8d6afe6617bdd9888967b8b0af5
https://doi.org/10.1016/j.arcped.2007.10.008
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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
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〉
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
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Early diagnosis of pyridoxine-dependent epilepsy: Video-EEG monitoring and biochemical and genetic investigation
Autor: Jullita de Bellescize, Vincent des Portes, Carole Ginguene, S. Marignier, Dorothée Ville
Publikováno v: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2013, 17, pp.Issue : 6 Pages : 676-680. ⟨10.1016/j.ejpn.2013.06.005⟩
International audience; Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease. A delay of treatment may affect outcome and early initiation of pyridoxine based on effective diagnosis is crucial to ensure good cognitive o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::071b938ef775fafe21b5cacc728477a3
https://hal.archives-ouvertes.fr/hal-01104183
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Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome
Autor: Gérald Bussy, Damien Sanlaville, S. Marignier, Jessica Marguin, Vincent des Portes, Gaetan Lesca
Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, 2012, 55 (6-7), pp.433-6. ⟨10.1016/j.ejmg.2012.03.008⟩
European Journal of Medical Genetics, Elsevier, 2012, 55 (6-7), pp.433-6. ⟨10.1016/j.ejmg.2012.03.008⟩
International audience; We report an 11-year-old girl for whom the diagnosis of cri du chat syndrome (CdCS) was made during a genetic investigation of childhood apraxia of speech. The patient presented with the classic chromosome 5 short arm deletion
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79dbef6d9b5a03657a4db4b1af5def6a
https://hal.science/hal-00904092
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8
Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case
Autor: J. P. Pracros, V. des Portes, S. Marignier, P. Roth, Laurent Guibaud, Pascal Gaucherand, Charles Mellerio
Publikováno v: Ultrasound in Obstetrics and Gynecology = Ultrasound in Obstetrics & Gynecology
Ultrasound in Obstetrics and Gynecology = Ultrasound in Obstetrics & Gynecology, Wiley-Blackwell, 2008, 31 (6), pp.712-4. ⟨10.1002/uog.5336⟩
Ultrasound in Obstetrics and Gynecology = Ultrasound in Obstetrics & Gynecology, 2008, 31 (6), pp.712-4. ⟨10.1002/uog.5336⟩
International audience
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::602a564765a24445896ab57684b07cc2
https://hal.archives-ouvertes.fr/hal-00655303
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Safety of computerized drug management: a case report
Autor: François Gueyffier, S. Marignier, Behrouz Kassai, Pierre Cochat, Thierry Vial, K.A. Nguyen
Publikováno v: British Journal of Clinical Pharmacology
British Journal of Clinical Pharmacology, Wiley, 2006, 63, pp.245-246
British Journal of Clinical Pharmacology, 2006, 63, pp.245-246
A previously healthy French-born 13-month-old ethnically African girl, weighing 10 kg, travelled to Comoros (South-East Africa) on 10 July. Her family history was notable for an autistic brother and two other brothers in good health. Her parents are
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af4d24fb49c0ad25f02fa257be0d889d
https://doi.org/10.1111/j.1365-2125.2006.02774.x
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