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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli, Simone; Krumbach, Oliver H F; Pantaleoni, Francesca; Coppola, Simona; Amin, Ehsan; Pannone, Luca; Nouri, Kazem; Farina, Luciapia; Dvorsky, Radovan; Lepri, Francesca; Buchholzer, Marcel; Konopatzki, Raphael; Walsh, Laurence; Payne, Katelyn; Pierpont, Mary Ella; Vergano, Samantha Schrier; Langley, Katherine G; Larsen, Douglas; Farwell, Kelly D; Tang, Sha; Mroske, Cameron; Gallotta, Ivan; Di Schiavi, Elia; Della Monica, Matteo; Lugli, Licia; Rossi, Cesare; Seri, Marco; Cocchi, Guido; Henderson, Lindsay; Baskin, Berivan; Alders, Mariëlle; Mendoza-Londono, Roberto; Dupuis, Lucie; Nickerson, Deborah A; Chong, Jessica X; Meeks, Naomi; Brown, Kathleen; Causey, Tahnee; Cho, Megan T; Demuth, Stephanie; Digilio, Maria Cristina; Gelb, Bruce D; Bamshad, Michael J; Zenker, Martin; Ahmadian, Mohammad Reza; Hennekam, Raoul C; Tartaglia, Marco; Mirzaa, Ghayda M.
Afiliação
  • Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.
  • Krumbach OHF; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany.
  • Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
  • Coppola S; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome 00161, Italy.
  • Amin E; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany.
  • Pannone L; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
  • Nouri K; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany.
  • Farina L; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome 00161, Italy.
  • Dvorsky R; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany.
  • Lepri F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
  • Buchholzer M; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany.
  • Konopatzki R; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany.
  • Walsh L; Riley Hospital for Children, Indianapolis, IN 46202, USA.
  • Payne K; Riley Hospital for Children, Indianapolis, IN 46202, USA.
  • Pierpont ME; Department of Pediatrics, University of Minnesota, Minneapolis, MN 55454, USA; Children's Hospital of Minnesota, Minneapolis, MN 55454, USA.
  • Vergano SS; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.
  • Langley KG; GeneDX, Gaithersburg, MD 20877, USA.
  • Larsen D; Department of Neurology, Washington University, St. Louis, MO 63130, USA.
  • Farwell KD; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA 92656, USA.
  • Tang S; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA 92656, USA.
  • Mroske C; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA 92656, USA.
  • Gallotta I; Institute of Biosciences and Bioresources, National Research Council, 80131 Naples, Italy.
  • Di Schiavi E; Institute of Biosciences and Bioresources, National Research Council, 80131 Naples, Italy.
  • Della Monica M; Genetica Medica, Azienda Ospedaliera Universitaria Meyer, 50139 Florence, Italy.
  • Lugli L; Struttura Complessa di Neonatologia, Policlinico di Modena, 41124 Modena, Italy.
  • Rossi C; Genetica Medica, Policlinico S.Orsola-Malpighi, 40138 Bologna, Italy.
  • Seri M; Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.
  • Cocchi G; Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.
  • Henderson L; GeneDX, Gaithersburg, MD 20877, USA.
  • Baskin B; GeneDX, Gaithersburg, MD 20877, USA.
  • Alders M; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam 1105-AZ, the Netherlands.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Meeks N; Children's Hospital Colorado, Aurora, CO 80045, USA.
  • Brown K; Children's Hospital Colorado, Aurora, CO 80045, USA.
  • Causey T; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23284, USA.
  • Cho MT; GeneDX, Gaithersburg, MD 20877, USA.
  • Demuth S; Praxis für Humangenetik Erfurt, Erfurt 99084, Germany.
  • Digilio MC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
  • Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg 39120, Germany.
  • Ahmadian MR; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany.
  • Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam 1105-AZ, the Netherlands.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy. Electronic address: marco.tartaglia@opbg.net.
  • Mirzaa GM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address: gmirzaa@u.washington.edu.
Am J Hum Genet ; 102(2): 309-320, 2018 02 01.
Article em En | MEDLINE | ID: mdl-29394990
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Atrofia Muscular / Heterogeneidade Genética / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Proteína cdc42 de Ligação ao GTP / Transtornos do Neurodesenvolvimento / Síndrome de Noonan Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Atrofia Muscular / Heterogeneidade Genética / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Proteína cdc42 de Ligação ao GTP / Transtornos do Neurodesenvolvimento / Síndrome de Noonan Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article