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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Kuechler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas.
Afiliação
  • Meyer R; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
  • Begemann M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
  • Hübner CT; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
  • Dey D; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
  • Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Elgizouli M; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Schara U; Department of Neuropediatrics, University Children's Hospital, University Duisburg-Essen, Essen, Germany.
  • Ambrozaityte L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Burnyte B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Schröder C; Zentrum Für Kinder- Und Jugendmedizin, Abt. Allgemeine Pädiatrie, Universitätsmedizin Greifswald, Greifswald, Germany.
  • Kenawy A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
  • Kroisel P; Institute of Human Genetics, Graz, Austria.
  • Demuth S; Praxis Für Humangenetik, Erfurt, Germany.
  • Fekete G; II. Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Opladen T; Division for Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Elbracht M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
  • Eggermann T; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. teggermann@ukaachen.de.
Orphanet J Rare Dis ; 16(1): 42, 2021 01 22.
Article em En | MEDLINE | ID: mdl-33482836
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Silver-Russell Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Silver-Russell Idioma: En Ano de publicação: 2021 Tipo de documento: Article