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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica.
Afiliação
  • Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Azizi AA; Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Basel DG; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.
  • Bellus G; Department of Clinical Genetics and Metabolism, Children's Hospital, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Bird LM; Department of Pediatrics, University of California San Diego; Division of Genetics/Dysmorphology, Rady Children's Hospital, San Diego, California, USA.
  • Blazo MA; Baylor Scott and White Hospital, Temple, Texas, USA.
  • Burke LW; Clinical Genetics Program, University of Vermont Medical Center, Burlington, Vermont, USA.
  • Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Collins F; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • DeFilippo C; Department of Pediatrics, Division of Genomic Medicine, UC Davis MIND Institute, Sacramento, California, USA.
  • Denayer E; Department of Human Genetics, KU Leuven-University of Leuven, Leuven, Belgium.
  • Digilio MC; Medical Genetics Unit, Bambino Gesù Children's, IRCCS, Rome, Italy.
  • Dills SK; Carolinas Medical Center, Charlotte, North Carolina, USA.
  • Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy.
  • Greenwood RS; Department of Neurology, Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
  • Griffis C; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.
  • Gupta P; Neurofibromatosis Diagnostic & Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey, USA.
  • Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS), Madrid, Spain.
  • Janssens S; Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.
  • Jones KJ; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Jordan JT; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Kannu P; Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Korf BR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Lewis AM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Listernick RH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lonardo F; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Mahoney MJ; Medical Genetics Unit, G. Rummo Hospital, Benevento, Italy.
  • Ojeda MM; Department of Genetics, Yale University, New Haven, Connecticut, USA.
  • McDonald MT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • McDougall C; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.
  • Mendelsohn N; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Miller DT; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota, USA.
  • Mori M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Oostenbrink R; Department of Pediatrics, Warren Alpert Medical School, Brown University, Providence, Rhode Island, USA.
  • Perreault S; Department of General Pediatrics, Erasmus MC-Sophia, Rotterdam, The Netherlands.
  • Pierpont ME; CHU Sainte-Justine, Mother and Child University Hospital Center, Montréal, Québec, Canada.
  • Piscopo C; Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, Minnesota, USA.
  • Pond DA; U.O.S.C. Medical Genetics, A.O.R.N. "A. Cardarelli", Naples, Italy.
  • Randolph LM; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota, USA.
  • Rauen KA; Division of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
  • Rednam S; Department of Pediatrics, Division of Genomic Medicine, UC Davis MIND Institute, Sacramento, California, USA.
  • Rutledge SL; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.
  • Saletti V; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Genet Med ; 21(4): 867-876, 2019 04.
Article em En | MEDLINE | ID: mdl-30190611
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Neurofibroma Plexiforme / Neurofibromina 1 / Deficiências da Aprendizagem Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Neurofibroma Plexiforme / Neurofibromina 1 / Deficiências da Aprendizagem Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article