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Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
Villanueva, Pía; Nudel, Ron; Hoischen, Alexander; Fernández, María Angélica; Simpson, Nuala H; Gilissen, Christian; Reader, Rose H; Jara, Lillian; Echeverry, María Magdalena; Echeverry, Maria Magdalena; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; O'Hare, Anne; Bolton, Patrick F; Hennessy, Elizabeth R; Palomino, Hernán; Carvajal-Carmona, Luis; Veltman, Joris A; Cazier, Jean-Baptiste; De Barbieri, Zulema; Fisher, Simon E; Newbury, Dianne F.
Afiliación
  • Villanueva P; Human Genetics Program, Institute of Biomedical Sciences (ICBM), Faculty of Medicine, University of Chile, Santiago, Chile; School of Speech and Hearing Therapy, Faculty of Medicine, University of Chile, Santiago, Chile; Department of Child and Dental Maxillary Orthopedics, Faculty of Dentistry, Uni
  • Nudel R; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
  • Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Fernández MA; School of Speech and Hearing Therapy, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Simpson NH; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
  • Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Reader RH; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
  • Jara L; Human Genetics Program, Institute of Biomedical Sciences (ICBM), Faculty of Medicine, University of Chile, Santiago, Chile.
  • Echeverry MM; Grupo de Citogenetica, Filogenia y Evolucion de las Poblaciones, Facultades de Ciencias y de Ciencias de la Salud, Universidad del Tolima, Ibague, Colombia.
  • Francks C; Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
  • Baird G; Newcomen Centre, the Evelina Children's Hospital, London, United Kingdom.
  • Conti-Ramsden G; School of Psychological Sciences, University of Manchester, Manchester, United Kingdom.
  • O'Hare A; Department of Reproductive and Developmental Sciences, University of Edinburgh, Edinburgh, United Kingdom.
  • Bolton PF; Departments of Child & Adolescent Psychiatry & Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, United Kingdom.
  • Hennessy ER; University Child Health and DMDE, University of Aberdeen, Aberdeen, United Kingdom.
  • Palomino H; Department of Child and Dental Maxillary Orthopedics, Faculty of Dentistry, University of Chile, Santiago, Chile.
  • Carvajal-Carmona L; Grupo de Citogenetica, Filogenia y Evolucion de las Poblaciones, Facultades de Ciencias y de Ciencias de la Salud, Universidad del Tolima, Ibague, Colombia; UC Davis Genome Center, Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, Californi
  • Veltman JA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Cazier JB; Department of Oncology, University of Oxford, Oxford, United Kingdom; Centre for Computational Biology, University of Birmingham, Edgbaston, United Kingdom.
  • De Barbieri Z; School of Speech and Hearing Therapy, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Fisher SE; Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
  • Newbury DF; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; St Johns College, University of Oxford, Oxford, United Kingdom.
PLoS Genet ; 11(3): e1004925, 2015 Mar.
Article en En | MEDLINE | ID: mdl-25781923

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Apraxias / Proteínas Portadoras / Estudios de Asociación Genética / Exoma / Proteínas de la Membrana Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Apraxias / Proteínas Portadoras / Estudios de Asociación Genética / Exoma / Proteínas de la Membrana Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article