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Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Karimi, Karim; Mol, Merel O; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Brooks, Alice; Zonneveld-Huijssoon, Evelien; Gerkes, Erica H; Tedder, Matthew L; Vissers, Lisenka; Salzano, Emanuela; Piccione, Maria; Asaftei, Sebastian Dorin; Carli, Diana; Mussa, Alessandro; Shukarova-Angelovska, Elena; Trajkova, Slavica; Brusco, Alfredo; Merla, Giuseppe; Alders, Marielle M; Bouman, Arjan; Sadikovic, Bekim.
  • Karimi K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • Mol MO; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • Brooks A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Tedder ML; Greenwood Genetic Center, Greenwood, SC.
  • Vissers L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Salzano E; Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.
  • Piccione M; Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
  • Asaftei SD; Pediatric Onco-Hematology, Regina Margherita Children's Hospital, Città della Salute e della Scienza di Torino, Torino, Italy.
  • Carli D; Department of Medical Sciences, University of Turin, Turin, Italy; Immunogenetics and Transplant Biology Service, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Mussa A; Department of Public Health and Pediatrics, University of Turin, Turin, Italy.
  • Shukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, North Macedonia.
  • Trajkova S; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Brusco A; Department of Medical Sciences, University of Turin, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
  • Alders MM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
  • Bouman A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address: a.bouman@erasmusmc.nl.
  • Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.
Genet Med ; 26(3): 101041, 2024 Mar.
Article en En | MEDLINE | ID: mdl-38054406
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article