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The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Giannuzzi, Giuliana; Schmidt, Paul J; Porcu, Eleonora; Willemin, Gilles; Munson, Katherine M; Nuttle, Xander; Earl, Rachel; Chrast, Jacqueline; Hoekzema, Kendra; Risso, Davide; Männik, Katrin; De Nittis, Pasquelena; Baratz, Ethan D; Herault, Yann; Gao, Xiang; Philpott, Caroline C; Bernier, Raphael A; Kutalik, Zoltan; Fleming, Mark D; Eichler, Evan E; Reymond, Alexandre.
Afiliación
  • Giannuzzi G; Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland. Electronic address: giuliana.giannuzzi@gmail.com.
  • Schmidt PJ; Department of Pathology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Porcu E; Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland; Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland.
  • Willemin G; Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland.
  • Munson KM; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Nuttle X; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
  • Chrast J; Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland.
  • Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Risso D; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Männik K; Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland.
  • De Nittis P; Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland.
  • Baratz ED; Genetics and Metabolism Section, Liver Diseases Branch, NIDDK, National Institutes of Health, Bethesda, MD 20892, USA.
  • Herault Y; University of Strasbourg, CNRS, INSERM, PHENOMIN-ICS, Institute of Genetics and Molecular and Cellular Biology, Illkirch, 67404, France.
  • Gao X; Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, Nanjing, 210061 China.
  • Philpott CC; Genetics and Metabolism Section, Liver Diseases Branch, NIDDK, National Institutes of Health, Bethesda, MD 20892, USA.
  • Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
  • Kutalik Z; Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland; University Center for Primary Care and Public Health, Lausanne, 1010, Switzerland.
  • Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
  • Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland.
Am J Hum Genet ; 105(5): 947-958, 2019 11 07.
Article en En | MEDLINE | ID: mdl-31668704
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Cromosomas Humanos Par 16 / Proteínas / Duplicación Cromosómica / Homeostasis / Anemia Tipo de estudio: Risk_factors_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Cromosomas Humanos Par 16 / Proteínas / Duplicación Cromosómica / Homeostasis / Anemia Tipo de estudio: Risk_factors_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos