c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis

Autor: Kdissa, Ameni, Brusgaard, Klaus, Ksiaa, Mahdi, Golli, Lamia, Hallara, Olfa, Ousager, Lilian Bomme, Manoubi, Wiem, Seghaier, Rihab Ben, Adala, Labiba, Halleb, Yosra, Saad, Ali, Hmila, Fahmi, Gribaa, Moez

Publikováno v: In Cancer Genetics January 2020 240:45-53

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Autor: Brunet T; Institute of Human Genetics, Technical University Munich, Munich, Germany. theresa.brunet@mri.tum.de., McWalter K; GeneDx, Inc., Gaithersburg, MD, USA., Mayerhanser K; Institute of Human Genetics, Technical University Munich, Munich, Germany., Anbouba GM; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Armstrong-Javors A; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA, USA., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Baugh E; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Begtrup A; GeneDx, Inc., Gaithersburg, MD, USA., Bupp CP; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA., Callewaert BL; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Del Rey Jimenez JC; St George's Genomics Service, St George's University Hospitals NHS FT, London, UK., Demmer L; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Fleischer N; FDNA Inc., Boston, MA, USA., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Ghate S; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA., Graf E; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Green A; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Green SR; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Kdissa A; CENTOGENE AG, Rostock, Germany., Klee D; Department of Diagnostic and Interventional Radiology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Lancaster E; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA., Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London, UK., Meeks NJL; Department of Pediatrics, Section of Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Mittag D; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA., Moore H; INTEGRIS Pediatric Specialties/Medical Genetics, Oklahoma City, OK, USA., Olsen AK; Department of Pediatric, Soerlandet Sykehus Kristiansand, Kristiansand, Norway., Ortiz D; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Parsons G; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Person RE; GeneDx, Inc., Gaithersburg, MD, USA., Punj S; GeneDx, Inc., Gaithersburg, MD, USA., Ramos-Rivera GA; Department of Pediatric Neurology, National Institute of Children's Diseases, Bratislava, Slovakia., Sacoto MJG; GeneDx, Inc., Gaithersburg, MD, USA., Bradley Schaefer G; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA., Schnur RE; GeneDx, Inc., Gaithersburg, MD, USA., Scott TM; Texas Children's Hospital, Houston, TX, USA.; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, UT, USA., Scott DA; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Serbinski CR; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Siu VM; Department of Pediatrics, Western University, London, ON, Canada., Stadheim BF; Department of Clinical Genetics, Oslo University Hospital, Oslo, Norway., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Švantnerová J; Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia., Velsher L; Genetics Program, North York General Hospital, Toronto, ON, Canada., Wargowski DS; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA., Wentzensen IM; GeneDx, Inc., Gaithersburg, MD, USA., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Winkelmann J; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Neurogenetics, Technische Universität München, Munich, Germany., Yap P; Genetic Health Service New Zealand (Northern Hub), Auckland, New Zealand.; Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand., Zech M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Meitinger T; Institute of Human Genetics, Technical University Munich, Munich, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany., Wagner M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 384-395. Date of Electronic Publication: 2020 Nov 11.