Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Autor: Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Johns E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Uhas KA; Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia., Armstrong L; Department of Medical Genetics, BC Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada., Bosanko KA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Baker L; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware., Basel DG; Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Bengala M; U.O.C Laboratorio di Genetica Medica, Dipartimento di Oncoematologia, Fondazione Policlinico di Tor Vergata, Rome, Italy., Bennett JT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington., Chambers C; Department of Neurology, University of Virginia Medical Center, Charlottesville, Virginia., Clarkson LK; Greenwood Genetic Center, Greenwood, South Carolina., Clementi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Cortés FM; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile., Cunningham M; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan., D'Agostino MD; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy., Esposito S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Fox S; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Giugliano T; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Giustini S; Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy., Goetsch A; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Goldberg Y; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel., Greenwood RS; Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina., Griffis C; Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware., Gupta P; Neurofibromatosis Diagnostic and Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey., Haan E; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia., Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Haygarth TL; Carolinas HealthCare System, Levine Children's Specialty Center, Charlotte, North Carolina., Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Hodge K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, California., Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Keller K; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Kochhar A; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Liebelt J; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia., Lichty A; Greenwood Genetic Center, Greenwood, South Carolina., Listernick RH; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium., Martinez Ojeda M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., McGregor LK; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia., Melis D; Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy., Mendelsohn N; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Ortenberg J; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Panzer K; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa., Pappas JG; Division of Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York., Pierpont ME; Department of Pediatrics and Opthalmology, University of Minnesota, Minneapolis, Minnesota., Piluso G; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Pinna V; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Pivnick EK; Department of Pediatrics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee., Pond DA; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Powell CM; Department of Genetics and Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina., Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Ruhrman Shahar N; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel., Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sandaradura SA; Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia., Santoro C; Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of Neurofibromatosis, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Schatz UA; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Schreiber A; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Sellars EA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Sheffer R; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Siqveland E; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Slopis JM; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine., Spalice A; Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Rome, Italy., Stockton DW; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Theos A; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama., Tomlinson GE; Division of Pediatric Hematology-Oncology, Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, Texas., Tran G; Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas., Trapane PL; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine, Jacksonville, Florida., Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Van den Ende J; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia., Wallace SE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Yohay KH; Department of Neurology, New York University School of Medicine, Langone Medical Center, New York, New York., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., Zonana J; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Zurcher V; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio., Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Eoli M; Division of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., De Luca A; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Legius E; Department of Human Genetics, KU Leuven, Leuven, Belgium., Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

Publikováno v: Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 299-315. Date of Electronic Publication: 2019 Oct 26.

Clinical utility of the X-chromosome array.

Autor: Zarate YA; Greenwood Genetic Center, Greenwood, SC, USA. yzarate@ggc.org, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Jan; Vol. 161A (1), pp. 120-30. Date of Electronic Publication: 2012 Dec 03.