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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; Pehlivan, Davut; Saadi, Nebal W; Sahin, Yavuz; Maroofian, Reza; Efthymiou, Stephanie; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Gu, Shen; Posey, Jennifer E; Lupski, James R; Hunter, Jill V; Wangler, Michael F; Carroll, Christopher J; Yang, Yaping.
  • Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Isohanni P; Baylor Genetics, Houston, TX.
  • Shao Y; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Graham BH; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Hickey SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Brooks S; Department of Pediatrics, Baylor College of Medicine, Houston, TX.
  • Suomalainen A; Texas Children's Hospital, Houston, TX.
  • Joset P; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
  • Steindl K; Department of Pediatrics, Ohio State University College of Medicine, Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Rauch A; Department of Pediatrics, Ohio State University College of Medicine, Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Hackenberg A; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • High FA; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.
  • Armstrong-Javors A; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.
  • Mencacci NE; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.
  • Gonzàlez-Latapi P; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland.
  • Kamel WA; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA.
  • Al-Hashel JY; Harvard Medical School, Boston, MA.
  • Bustos BI; Harvard Medical School, Boston, MA.
  • Hernandez AV; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA.
  • Krainc D; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Lubbe SJ; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Van Esch H; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • De Luca C; Department of Neurology, Ibn Sina Hospital, Kuwait City, Kuwait.
  • Ballon K; Department of Neurology, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.
  • Ravelli C; Department of Neurology, Ibn Sina Hospital, Kuwait City, Kuwait.
  • Burglen L; Department of Medicine, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
  • Qebibo L; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Calame DG; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Mitani T; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Marafi D; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Pehlivan D; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Saadi NW; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Sahin Y; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.
  • Maroofian R; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
  • Efthymiou S; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
  • Houlden H; Centre for Developmental Disabilities, University Hospitals Leuven, Leuven, Belgium.
  • Maqbool S; Pediatric Neurology Department, Neurogenetics Reference Center, I-motion Institute, Public Hospital Network of Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.
  • Rahman F; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Public Hospital Network of Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.
  • Gu S; Developmental Brain Disorders Laboratory, Imagine Institute, Paris, France.
  • Posey JE; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Public Hospital Network of Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Hunter JV; Texas Children's Hospital, Houston, TX.
  • Wangler MF; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
  • Carroll CJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Ann Neurol ; 89(4): 828-833, 2021 04.
Article en En | MEDLINE | ID: mdl-33443317
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cerebelo / Discapacidades del Desarrollo / Distonía / Complejo Mediador / Malformaciones del Sistema Nervioso Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cerebelo / Discapacidades del Desarrollo / Distonía / Complejo Mediador / Malformaciones del Sistema Nervioso Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant Idioma: En Año: 2021 Tipo del documento: Article