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Genomic imbalances defining novel intellectual disability associated loci.
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, Guiomar; Sá, Maria João; Temudo, Teresa; Sousa, Susana; Marques, Carla; Lopes, Sofia; Gomes, Catarina; Barros, Gisela; Jorge, Arminda; Rocha, Felisbela; Martins, Cecília; Mesquita, Sandra; Loureiro, Susana; Cardoso, Elisa Maria; Cálix, Maria José; Dias, Andreia; Martins, Cristina; Mota, Céu R; Antunes, Diana; Dupont, Juliette; Figueiredo, Sara; Figueiroa, Sónia; Gama-de-Sousa, Susana; Cruz, Sara; Sampaio, Adriana; Eijk, Paul; Weiss, Marjan M; Ylstra, Bauke; Rendeiro, Paula; Tavares, Purificação; Reis-Lima, Margarida; Pinto-Basto, Jorge; Fortuna, Ana Maria; Maciel, Patrícia.
Afiliación
  • Lopes F; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, 4710-057, Braga, Portugal.
  • Torres F; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Soares G; CGC Genetics, Porto, Portugal.
  • Barbosa M; Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.
  • Silva J; Center for Medical Genetics Dr. Jacinto Magalhães, Porto Hospital Center, Praça Pedro Nunes, Porto, Portugal.
  • Duque F; Center for Medical Genetics Dr. Jacinto Magalhães, Porto Hospital Center, Praça Pedro Nunes, Porto, Portugal.
  • Rocha M; Unit for Multidisciplinary Research in Biomedicine, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.
  • Sá J; The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Oliveira G; The Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Sá MJ; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Temudo T; Center for Medical Genetics Dr. Jacinto Magalhães, Porto Hospital Center, Praça Pedro Nunes, Porto, Portugal.
  • Sousa S; Centro de Genética Preditiva e Preventiva - CGPP, Instituto de Biologia Molecular e Celular - IBMC, Universidade do Porto, Porto, Portugal.
  • Marques C; Instituto de Investigação e Inovação em Saúde - i3S, Universidade do Porto, Porto, Portugal.
  • Lopes S; Unidade de Neurodesenvolvimento e Autismo do Serviço do Centro de Desenvolvimento da Criança and Centro de Investigação e Formação Clínica, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, 3041-80, Coimbra, Portugal.
  • Gomes C; University Clinic of Pediatrics and Institute for Biomedical Imaging and Life Science, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
  • Barros G; Center for Medical Genetics Dr. Jacinto Magalhães, Porto Hospital Center, Praça Pedro Nunes, Porto, Portugal.
  • Jorge A; Medical Genetics Unit, Hospital de Braga, Braga, Portugal.
  • Rocha F; CGC Genetics, Porto, Portugal.
  • Martins C; Department of Medical Genetics, Hospital de Faro, Faro, Portugal.
  • Mesquita S; Unidade de Neurodesenvolvimento e Autismo do Serviço do Centro de Desenvolvimento da Criança and Centro de Investigação e Formação Clínica, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, 3041-80, Coimbra, Portugal.
  • Loureiro S; University Clinic of Pediatrics and Institute for Biomedical Imaging and Life Science, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
  • Cardoso EM; Center for Medical Genetics Dr. Jacinto Magalhães, Porto Hospital Center, Praça Pedro Nunes, Porto, Portugal.
  • Cálix MJ; Unit for Multidisciplinary Research in Biomedicine, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.
  • Dias A; Pediatric Neurology Department, Centro Materno-Infantil Centro Hospitalar do Porto, Porto, Portugal.
  • Martins C; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, 4710-057, Braga, Portugal.
  • Mota CR; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Antunes D; Centro de Genética Preditiva e Preventiva - CGPP, Instituto de Biologia Molecular e Celular - IBMC, Universidade do Porto, Porto, Portugal.
  • Dupont J; Instituto de Investigação e Inovação em Saúde - i3S, Universidade do Porto, Porto, Portugal.
  • Figueiredo S; Unidade de Neurodesenvolvimento e Autismo do Serviço do Centro de Desenvolvimento da Criança and Centro de Investigação e Formação Clínica, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, 3041-80, Coimbra, Portugal.
  • Figueiroa S; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, 4710-057, Braga, Portugal.
  • Gama-de-Sousa S; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Cruz S; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, 4710-057, Braga, Portugal.
  • Sampaio A; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Eijk P; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, 4710-057, Braga, Portugal.
  • Weiss MM; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Ylstra B; Development Unit, Pediatrics Service, Hospital Centre of Cova da Beira, Covilhã, Portugal.
  • Rendeiro P; CICS - Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal.
  • Tavares P; Department of Pediatrics, Médio Ave Hospital Center, Vila Nova de Famalicão, Portugal.
  • Reis-Lima M; Department of Pediatrics, Médio Ave Hospital Center, Vila Nova de Famalicão, Portugal.
  • Pinto-Basto J; Development Unit, Pediatrics Service, Hospital Centre of Cova da Beira, Covilhã, Portugal.
  • Fortuna AM; Department of Pediatrics, Hospital S. Teotónio, Tondela/Viseu Hospital Center, Viseu, Portugal.
  • Maciel P; Department of Pediatrics, Hospital S. Teotónio, Tondela/Viseu Hospital Center, Viseu, Portugal.
Orphanet J Rare Dis ; 14(1): 164, 2019 07 05.
Article en En | MEDLINE | ID: mdl-31277718
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2019 Tipo del documento: Article País de afiliación: Portugal
Texto completo
Añadir a Mi BVS
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2019 Tipo del documento: Article País de afiliación: Portugal