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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Butcher, Darci T; Cytrynbaum, Cheryl; Turinsky, Andrei L; Siu, Michelle T; Inbar-Feigenberg, Michal; Mendoza-Londono, Roberto; Chitayat, David; Walker, Susan; Machado, Jerry; Caluseriu, Oana; Dupuis, Lucie; Grafodatskaya, Daria; Reardon, William; Gilbert-Dussardier, Brigitte; Verloes, Alain; Bilan, Frederic; Milunsky, Jeff M; Basran, Raveen; Papsin, Blake; Stockley, Tracy L; Scherer, Stephen W; Choufani, Sanaa; Brudno, Michael; Weksberg, Rosanna.
Afiliação
  • Butcher DT; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  • Cytrynbaum C; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
  • Turinsky AL; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  • Siu MT; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  • Inbar-Feigenberg M; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
  • Mendoza-Londono R; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
  • Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Prenatal Diag
  • Walker S; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8 Canada.
  • Machado J; PreventionGenetics, Marshfield, WI, 54449, USA.
  • Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, T6G 2R3, Canada.
  • Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  • Grafodatskaya D; Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, L8S 4L8, Canada.
  • Reardon W; National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
  • Gilbert-Dussardier B; Service de Génétique, Centre de Référence Anomalies du Développement de l'Ouest, CHU Poitiers, 86021 Poitiers, France; EA3808, Université de Poitiers, France.
  • Verloes A; Département de Génétique, APHP-Hôpital Robert DEBRE, 75019 Paris, France.
  • Bilan F; Service de Génétique, Centre de Référence Anomalies du Développement de l'Ouest, CHU Poitiers, 86021 Poitiers, France; EA3808, Université de Poitiers, France.
  • Milunsky JM; Center for Human Genetics Inc., Cambridge, MA 02139, USA.
  • Basran R; Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario M5G 1X8 Canada; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
  • Papsin B; Otolaryngology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Otolaryngology, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
  • Stockley TL; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Genome Diagnostics, Department of Clinical Laboratory Genetics, University Health Network, Canada.
  • Scherer SW; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8 Canada; McLaughlin Cent
  • Choufani S; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
  • Brudno M; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Computer Science, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
  • Weksberg R; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; De
Am J Hum Genet ; 100(5): 773-788, 2017 May 04.
Article em En | MEDLINE | ID: mdl-28475860
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / Metilação de DNA / Epigênese Genética / Face / Síndrome CHARGE / Doenças Hematológicas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / Metilação de DNA / Epigênese Genética / Face / Síndrome CHARGE / Doenças Hematológicas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article