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Cohesin complex-associated holoprosencephaly.
Kruszka, Paul; Berger, Seth I; Casa, Valentina; Dekker, Mike R; Gaesser, Jenna; Weiss, Karin; Martinez, Ariel F; Murdock, David R; Louie, Raymond J; Prijoles, Eloise J; Lichty, Angie W; Brouwer, Oebele F; Zonneveld-Huijssoon, Evelien; Stephan, Mark J; Hogue, Jacob; Hu, Ping; Tanima-Nagai, Momoko; Everson, Joshua L; Prasad, Chitra; Cereda, Anna; Iascone, Maria; Schreiber, Allison; Zurcher, Vickie; Corsten-Janssen, Nicole; Escobar, Luis; Clegg, Nancy J; Delgado, Mauricio R; Hajirnis, Omkar; Balasubramanian, Meena; Kayserili, Hülya; Deardorff, Matthew; Poot, Raymond A; Wendt, Kerstin S; Lipinski, Robert J; Muenke, Maximilian.
Affiliation
  • Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Berger SI; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Casa V; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.
  • Dekker MR; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.
  • Gaesser J; Department of Pediatrics, Division of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.
  • Weiss K; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Murdock DR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Louie RJ; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA.
  • Prijoles EJ; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA.
  • Lichty AW; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA.
  • Brouwer OF; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Stephan MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Hogue J; Division of Clinical Genetics, Department of Pediatrics, Madigan Army Hospital, Tacoma, WA, USA.
  • Hu P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Tanima-Nagai M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Everson JL; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA.
  • Prasad C; Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.
  • Cereda A; Children's Health Research Institute, London, ON, Canada.
  • Iascone M; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Schreiber A; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Zurcher V; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
  • Corsten-Janssen N; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
  • Escobar L; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Clegg NJ; Peyton Manning Children's Hospital at St. Vincent, Medical Genetics and Neurodevelopment Center, Indianapolis, IN, USA.
  • Delgado MR; Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
  • Hajirnis O; Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
  • Balasubramanian M; Department of Neurology and Neurotherapeutics UT Southwestern Medical Center Dallas, TX, USA.
  • Kayserili H; Pediatric Neurology, Synapses Child Neurology and Development Centre, Thane, Maharashtra, India.
  • Deardorff M; Sheffield Clinical Genetics Service, Sheffield Children's, NHS Foundation Trust, Sheffield, UK.
  • Poot RA; Academic Unit of Child Health, University of Sheffield, Sheffield, UK.
  • Wendt KS; Medical Genetics, Medical Faculty, Koç University, Istanbul, Turkey.
  • Lipinski RJ; The Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Muenke M; The Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
Brain ; 142(9): 2631-2643, 2019 09 01.
Article in En | MEDLINE | ID: mdl-31334757
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomal Proteins, Non-Histone / Holoprosencephaly / Cell Cycle Proteins Type of study: Risk_factors_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Brain Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomal Proteins, Non-Histone / Holoprosencephaly / Cell Cycle Proteins Type of study: Risk_factors_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Brain Year: 2019 Document type: Article Affiliation country: Country of publication: