Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.

DiStefano, Charlotte; Wilson, Rujuta B; Hyde, Carly; Cook, Edwin H; Thibert, Ronald L; Reiter, Lawrence T; Vogel-Farley, Vanessa; Hipp, Joerg; Jeste, Shafali

DiStefano, Charlotte; Wilson, Rujuta B; Hyde, Carly; Cook, Edwin H; Thibert, Ronald L; Reiter, Lawrence T; Vogel-Farley, Vanessa; Hipp, Joerg; Jeste, Shafali.

Afiliação

DiStefano C; Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California.
Wilson RB; Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California.
Hyde C; Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California.
Cook EH; Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois.
Thibert RL; Department of Neurology, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Reiter LT; Department of Neurology, Pediatrics, Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee.
Vogel-Farley V; Dup15q Alliance, Highland Park, Illinois.
Hipp J; Roche Pharma Research and Early Development, Neuroscience, Ophthalmology and Rare Diseases, Roche Innovation Center, Basel, Switzerland.
Jeste S; Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California.

Am J Med Genet A ; 182(1): 71-84, 2020 01.

Article em En | MEDLINE | ID: mdl-31654560

Assuntos

Transtorno do Espectro Autista/genética; Variações do Número de Cópias de DNA/genética; Epilepsia/genética; Deficiência Intelectual/genética; Adolescente; Transtorno do Espectro Autista/patologia; Criança; Pré-Escolar; Aberrações Cromossômicas; Duplicação Cromossômica/genética; Cromossomos Humanos Par 15/genética; Estudos de Coortes; Epilepsia/patologia; Feminino; Humanos; Deficiência Intelectual/patologia; Masculino; Linhagem

Palavras-chave

behavioral assessment; dup15q syndrome; epilepsy; intellectual disability

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Variações do Número de Cópias de DNA / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article

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