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Wyszukujesz frazę ""Sacco, Silvia"" wg kryterium: Autor


Tytuł :
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial
Autorzy :
Mircher, Clotilde
Sacco, Silvia
Bouis, Charles
Gallard, Jennifer
Pichot, Aude
Le Galloudec, Eric
Cieuta, Cécile
Marey, Isabelle
Greiner-Mahler, Oliver
Dorison, Nathalie
Gambarini, Alicia
Stora, Samantha
Durand, Sophie
Polak, Michel
Baruchel, André
Schlumberger, Emilie
Dewailly, Jean
Azar-Kolakez, Ahlam
Guéant-Rodriguez, Rosa-MariaAff8, Aff9
Guéant, Jean-LouisAff8, Aff9
Borderie, Didier
Bonnefont-Rousselot, DominiqueAff11, Aff12
Blondiaux, Elodie
Ravel, Aimé
Sturtz, Franck G.Aff1, Aff14, Aff15
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(1):44-52
Czasopismo naukowe
Tytuł :
Longitudinal plasma levels of neurofilament light in Down syndrome: A multicenter study: Biomarkers (non‐neuroimaging) / Longitudinal change over time.
Autorzy :
Alcolea, Daniel
Carmona‐Iragui, Maria
Barroeta, Isabel
Videla, Laura
Muñoz, Laia
Van Pelt, Kathryn L
Schmitt, Frederick A
Lightner, Donita
Koehl, Lisa
Sacco, Silvia
Mircher, Clotilde
Pape, Sarah
Nübling, Georg
Levin, Johannes
Zaman, Shahid
Strydom, Andre
Rebillat, Anne‐Sophie
Head, Elizabeth
Blesa, Rafael
Lleó, Alberto
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Źródło :
Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Dec2020 Supplement S11, Vol. 16 Issue 11, p1-3, 3p
Czasopismo naukowe
Tytuł :
Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency
Autorzy :
CURIE, Aurore
SACCO, Silvia
BUSSY, Gérald
DE SAINT MARTIN, Anne
BODDAERT, Nathalie
CHANRAUD, Sandra
MERESSE, Isabelle
CHELLY, Jamel
ZILBOVICIUS, Monica
DES PORTES, Vincent
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Temat :
Déficience intellectuelle
Intellectual deficiency
Deficiencia intelectual
Imagerie médicale
Medical imagery
Imaginería médica
Trouble du développement
Developmental disorder
Trastorno desarrollo
Arriération mentale
Mental retardation
Retraso mental
Caractère lié au sexe
Sex linked character
Carácter ligado al sexo
Cervelet
Cerebellum
Cerebelo
Chromosome X
X-Chromosome
Cromosoma X
Génétique
Genetics
Genética
Homme
Human
Hombre
Imagerie RMN
Nuclear magnetic resonance imaging
Imaginería RMN
Malade
Patient
Enfermo
Maladie héréditaire
Genetic disease
Enfermedad hereditaria
Morphométrie
Morphometry
Morfometría
Magnetic resonance imaging
Rab-GDI
Voxel-Based Morphometry
X-linked mental retardation
Sciences biologiques et medicales
Biological and medical sciences
Sciences biologiques fondamentales et appliquees. Psychologie
Fundamental and applied biological sciences. Psychology
Genetique des eucaryotes. Evolution biologique et moleculaire
Genetics of eukaryotes. Biological and molecular evolution
Sciences medicales
Medical sciences
Psychopathologie. Psychiatrie
Psychopathology. Psychiatry
Etude clinique de l'adulte et de l'adolescent
Adult and adolescent clinical studies
Genetique medicale
Medical genetics
Généralités. Conseil génétique
General aspects. Genetic counseling
Psychologie. Psychanalyse. Psychiatrie
Psychology. Psychoanalysis. Psychiatry
PSYCHOPATHOLOGIE. PSYCHIATRIE
Źródło :
European journal of medical genetics. 52(1):6-13
Materiał oryginalny :
INIST-CNRS
Opis pliku :
text
Dostęp URL :
http://pascal-francis.inist.fr/vibad/index.php?action=search&terms=21096399
Czasopismo naukowe
Tytuł :
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Autorzy :
Mircher C; Institut Jérôme Lejeune, Paris, France. .
Sacco S; Institut Jérôme Lejeune, Paris, France.
Bouis C; Institut Jérôme Lejeune, Paris, France.
Gallard J; Institut Jérôme Lejeune, Paris, France.
Pichot A; Institut Jérôme Lejeune, Paris, France.
Le Galloudec E; Institut Jérôme Lejeune, Paris, France.
Cieuta C; Institut Jérôme Lejeune, Paris, France.
Marey I; Institut Jérôme Lejeune, Paris, France.
Greiner-Mahler O; Institut Jérôme Lejeune, Paris, France.
Dorison N; Institut Jérôme Lejeune, Paris, France.
Gambarini A; Institut Jérôme Lejeune, Paris, France.
Stora S; Institut Jérôme Lejeune Biobank BioJeL, Paris, France.
Durand S; Institut Jérôme Lejeune, Paris, France.
Polak M; Endocrinologie gynécologie diabétologie pédiatriques, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM U1016, Institut IMAGINE, Paris, France.
Baruchel A; Pediatric Hematology-Immunology Department, University Hospital Robert Debré, Assistance Publique-Hôpitaux de Paris. Paris Diderot University, EA 3518; Institute of Hematology, Sorbonne Paris-Cité, Paris, France.
Schlumberger E; Reference Center for Language and Learning Disorders, Raymond Poincaré Hospital, Assistance Publique-Hôpitaux de Paris, Garches, France.
Dewailly J; Bluestat Statistical Company, Garches, France.
Azar-Kolakez A; Endocrinology-Diabetology Department, Reference Center for Endocrine Growth and Developmental Disease, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Guéant-Rodriguez RM; Research Unit (Inserm) UMRS 1256 N-GERE (Nutrition-Genetics-Environmental Risks), University de Lorraine, Faculty of Medicine, Nancy, France.; Department of Endocrinology, Diabetology and Nutrition, University Hospital of Nancy, Nancy, France.
Guéant JL; Research Unit (Inserm) UMRS 1256 N-GERE (Nutrition-Genetics-Environmental Risks), University de Lorraine, Faculty of Medicine, Nancy, France.; Department of Endocrinology, Diabetology and Nutrition, University Hospital of Nancy, Nancy, France.
Borderie D; Biochemistry and Molecular Biology Laboratory, Cochin University Hospital, Paris, France.
Bonnefont-Rousselot D; Metabolic Biochemistry Department, Pitié-Salpêtrière-Charles Foix University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Biochemistry Department, Faculty of Pharmacy, CNRS UMR 8258 - INSERM U1022, Paris Descartes University, Paris, France.
Blondiaux E; Department of Statistics, Effi-Stat, Paris, France.
Ravel A; Institut Jérôme Lejeune, Paris, France.
Sturtz FG; Institut Jérôme Lejeune, Paris, France.; Biochemistry and Molecular Biology Department, CHU Limoges, Limoges, France.; Univ. Limoges, EA 6309, Limoges, France.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jan; Vol. 22 (1), pp. 44-52. Date of Electronic Publication: 2019 Jul 08.
Typ publikacji :
Clinical Trial, Phase III; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Down Syndrome/*drug therapy
Leucovorin/*administration & dosage
Psychomotor Performance/*drug effects
Thyroxine/*administration & dosage
Double-Blind Method ; Down Syndrome/psychology ; Female ; Humans ; Infant ; Intention to Treat Analysis/methods ; Leucovorin/pharmacology ; Male ; Thyroxine/pharmacology ; Thyroxine/therapeutic use ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.
Autorzy :
Liogier d'Ardhuy X; F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience, Roche Innovation Center Basel Basel, Switzerland.
Edgin JO; Department of Psychology, University of Arizona Tucson, AZ, USA.
Bouis C; Research Department, Institut Jérôme Lejeune Paris, France.
de Sola S; Cellular and Systems Neurobiology Research Group, Human Pharmacology and Clinical Neurosciences Research Group-Neurosciences Program, Systems Biology Program, Centre for Genomic Regulation, Hospital del Mar Medical Research Institute Barcelona, Spain.
Goeldner C; F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience, Roche Innovation Center Basel Basel, Switzerland.
Kishnani P; Medical Genetics, Duke University Medical Center Durham, NC, USA.
Nöldeke J; F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience, Roche Innovation Center Basel Basel, Switzerland.
Rice S; Department of Pediatrics, University of Arizona Tucson, AZ, USA.
Sacco S; Research Department, Institut Jérôme Lejeune Paris, France.
Squassante L; F. Hoffmann-La Roche, Biostatistics Basel, Switzerland.
Spiridigliozzi G; Department of Pediatrics, Duke University Medical Center Durham, NC, USA.
Visootsak J; F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center New York New York, NY, USA.
Heller J; Formerly of Duke University Medical Center Durham, NC, USA.
Khwaja O; F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Rare Diseases, Roche Innovation Center Basel Basel, Switzerland.
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Źródło :
Frontiers in behavioral neuroscience [Front Behav Neurosci] 2015 Nov 18; Vol. 9, pp. 300. Date of Electronic Publication: 2015 Nov 18 (Print Publication: 2015).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.
Autorzy :
des Portes V; Service de Pédiatrie, HCL, Centre Hospitalier Lyon Sud, 69395 Pierre-Bénite, France. />Boddaert N
Sacco S
Briault S
Maincent K
Bahi N
Gomot M
Ronce N
Bursztyn J
Adamsbaum C
Zilbovicius M
Chelly J
Moraine C
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2004 Feb 01; Vol. 124A (4), pp. 364-71.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Cerebellum/*abnormalities
Cytoskeletal Proteins/*genetics
GTPase-Activating Proteins/*genetics
Mental Retardation, X-Linked/*diagnosis
Nuclear Proteins/*genetics
Adult ; Cerebellum/pathology ; Epilepsy/complications ; Female ; Frameshift Mutation ; Humans ; Magnetic Resonance Imaging ; Male ; Mental Retardation, X-Linked/complications ; Mental Retardation, X-Linked/genetics ; Muscle Hypotonia/complications ; Vision Disorders/complications
Czasopismo naukowe

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