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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Kasher, Paul R; Schertz, Katherine E; Thomas, Megan; Jackson, Adam; Annunziata, Silvia; Ballesta-Martinez, María J; Campeau, Philippe M; Clayton, Peter E; Eaton, Jennifer L; Granata, Tiziana; Guillén-Navarro, Encarna; Hernando, Cristina; Laverriere, Caroline E; Liedén, Agne; Villa-Marcos, Olaya; McEntagart, Meriel; Nordgren, Ann; Pantaleoni, Chiara; Pebrel-Richard, Céline; Sarret, Catherine; Sciacca, Francesca L; Wright, Ronnie; Kerr, Bronwyn; Glasgow, Eric; Banka, Siddharth.
Afiliação
  • Kasher PR; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK.
  • Schertz KE; Department of Oncology, Georgetown Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20057, USA.
  • Thomas M; Child Health Directorate, Blackpool Teaching Hospitals, Blackpool FY3 8NR, UK; Faculty of Health and Medicine, University of Lancaster, Lancaster LA1 4YW, UK.
  • Jackson A; Child Health Directorate, Blackpool Teaching Hospitals, Blackpool FY3 8NR, UK.
  • Annunziata S; Fondazione I.R.C.C.S. Istituto Neurologico "C. Besta," Milan 20133, Italy.
  • Ballesta-Martinez MJ; Sección de Genética Médica, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Cátedra de Genética, UCAM, 30120 Murcia, Spain.
  • Campeau PM; Department of Paediatrics, University of Montreal, Montréal, QC H3T 1J4, Canada.
  • Clayton PE; Centre for Paediatrics & Child Health, Institute of Human Development, University of Manchester, Manchester M13 9WL, UK.
  • Eaton JL; Summa Health System, Akron, OH 44304, USA.
  • Granata T; Fondazione I.R.C.C.S. Istituto Neurologico "C. Besta," Milan 20133, Italy.
  • Guillén-Navarro E; Sección de Genética Médica, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Cátedra de Genética, UCAM, 30120 Murcia, Spain.
  • Hernando C; Quantitative Genomic Medicine Laboratories (qGenomics), 08950 Barcelona, Spain.
  • Laverriere CE; Department of Oncology, Georgetown Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20057, USA.
  • Liedén A; Medical Genetics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.
  • Villa-Marcos O; Quantitative Genomic Medicine Laboratories (qGenomics), 08950 Barcelona, Spain.
  • McEntagart M; Medical Genetics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.
  • Nordgren A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm 171 76, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 171 76, Sweden.
  • Pantaleoni C; Fondazione I.R.C.C.S. Istituto Neurologico "C. Besta," Milan 20133, Italy.
  • Pebrel-Richard C; Cytogénétique Médicale, CHU-Estaing, 63003 Clermont-Ferrand, France.
  • Sarret C; Génétique Médicale, Hôpital Estaing, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.
  • Sciacca FL; Fondazione I.R.C.C.S. Istituto Neurologico "C. Besta," Milan 20133, Italy.
  • Wright R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK.
  • Kerr B; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academ
  • Glasgow E; Department of Oncology, Georgetown Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20057, USA.
  • Banka S; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academ
Am J Hum Genet ; 98(2): 363-72, 2016 Feb 04.
Article em En | MEDLINE | ID: mdl-26833329
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Proteínas de Homeodomínio / Fatores do Domínio POU / Deficiência Intelectual / Obesidade Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Proteínas de Homeodomínio / Fatores do Domínio POU / Deficiência Intelectual / Obesidade Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos