Cohesin complex-associated holoprosencephaly.

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Title: Cohesin complex-associated holoprosencephaly.
Authors: 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.; Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA., Prasad C; Children's Health Research Institute, London, ON, Canada., Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Schreiber A; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA., Zurcher V; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA., Corsten-Janssen N; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Escobar L; Peyton Manning Children's Hospital at St. Vincent, Medical Genetics and Neurodevelopment Center, Indianapolis, IN, USA., Clegg NJ; Texas Scottish Rite Hospital for Children, Dallas, TX, USA., Delgado MR; Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Department of Neurology and Neurotherapeutics UT Southwestern Medical Center Dallas, TX, USA., Hajirnis O; Pediatric Neurology, Synapses Child Neurology and Development Centre, Thane, Maharashtra, India., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's, NHS Foundation Trust, Sheffield, UK.; Academic Unit of Child Health, University of Sheffield, Sheffield, UK., Kayserili H; Medical Genetics, Medical Faculty, Koç University, Istanbul, Turkey., Deardorff M; The Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA., Poot RA; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands., Wendt KS; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands., Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Source: Brain : a journal of neurology [Brain] 2019 Sep 01; Vol. 142 (9), pp. 2631-2643.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Cohesin complex-associated holoprosencephaly.
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  Data: <searchLink fieldCode="AU" term="%22Kruszka+P%22">Kruszka P</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Berger+SI%22">Berger SI</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Casa+V%22">Casa V</searchLink>; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Dekker+MR%22">Dekker MR</searchLink>; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gaesser+J%22">Gaesser J</searchLink>; Department of Pediatrics, Division of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Weiss+K%22">Weiss K</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Martinez+AF%22">Martinez AF</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Murdock+DR%22">Murdock DR</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Louie+RJ%22">Louie RJ</searchLink>; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Prijoles+EJ%22">Prijoles EJ</searchLink>; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Lichty+AW%22">Lichty AW</searchLink>; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Brouwer+OF%22">Brouwer OF</searchLink>; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Zonneveld-Huijssoon+E%22">Zonneveld-Huijssoon E</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Stephan+MJ%22">Stephan MJ</searchLink>; Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Hogue+J%22">Hogue J</searchLink>; Division of Clinical Genetics, Department of Pediatrics, Madigan Army Hospital, Tacoma, WA, USA.<br /><searchLink fieldCode="AU" term="%22Hu+P%22">Hu P</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Tanima-Nagai+M%22">Tanima-Nagai M</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Everson+JL%22">Everson JL</searchLink>; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.<br /><searchLink fieldCode="AU" term="%22Prasad+C%22">Prasad C</searchLink>; Children's Health Research Institute, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Cereda+A%22">Cereda A</searchLink>; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.<br /><searchLink fieldCode="AU" term="%22Iascone+M%22">Iascone M</searchLink>; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.<br /><searchLink fieldCode="AU" term="%22Schreiber+A%22">Schreiber A</searchLink>; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Zurcher+V%22">Zurcher V</searchLink>; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Corsten-Janssen+N%22">Corsten-Janssen N</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Escobar+L%22">Escobar L</searchLink>; Peyton Manning Children's Hospital at St. Vincent, Medical Genetics and Neurodevelopment Center, Indianapolis, IN, USA.<br /><searchLink fieldCode="AU" term="%22Clegg+NJ%22">Clegg NJ</searchLink>; Texas Scottish Rite Hospital for Children, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Delgado+MR%22">Delgado MR</searchLink>; Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Department of Neurology and Neurotherapeutics UT Southwestern Medical Center Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Hajirnis+O%22">Hajirnis O</searchLink>; Pediatric Neurology, Synapses Child Neurology and Development Centre, Thane, Maharashtra, India.<br /><searchLink fieldCode="AU" term="%22Balasubramanian+M%22">Balasubramanian M</searchLink>; Sheffield Clinical Genetics Service, Sheffield Children's, NHS Foundation Trust, Sheffield, UK.; Academic Unit of Child Health, University of Sheffield, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Kayserili+H%22">Kayserili H</searchLink>; Medical Genetics, Medical Faculty, Koç University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Deardorff+M%22">Deardorff M</searchLink>; The Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Poot+RA%22">Poot RA</searchLink>; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wendt+KS%22">Wendt KS</searchLink>; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lipinski+RJ%22">Lipinski RJ</searchLink>; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.<br /><searchLink fieldCode="AU" term="%22Muenke+M%22">Muenke M</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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