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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Cordeddu, Viviana; Yin, Jiani C; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J; Bruselles, Alessandro; Priest, James R; Pennacchio, Len A; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Martinelli, Simone; Pantaleoni, Francesca; Gnazzo, Maria; Daniele, Paola; Lissewski, Christina; Bocchinfuso, Gianfranco; Stella, Lorenzo; Odent, Sylvie; Philip, Nicole; Faivre, Laurence; Vlckova, Marketa; Seemanova, Eva; Digilio, Cristina; Zenker, Martin; Zampino, Giuseppe; Verloes, Alain; Dallapiccola, Bruno; Roberts, Amy E; Cavé, Hélène; Gelb, Bruce D; Neel, Benjamin G; Tartaglia, Marco.
Afiliación
  • Cordeddu V; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy.
  • Yin JC; Dipartimento di Scienze Psicologiche, della Salute e del Territorio, Università degli Studi "G. d'Annunzio", Chieti-Pescara, 66100, Italy.
  • Gunnarsson C; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada.
  • Virtanen C; Department of Clinical and Experimental Medicine, Division of Clinical Genetics, Faculty of Health Sciences, Linköping University, Linköping, 581 83, Sweden.
  • Drunat S; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada.
  • Lepri F; Département de Génétique, Hôpital Robert Debré, Paris, 75019, France.
  • De Luca A; Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, 00165, Italy.
  • Rossi C; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, 00161, Italy.
  • Ciolfi A; UO Genetica Medica, Policlinico S.Orsola-Malpighi, Bologna, 40138, Italy.
  • Pugh TJ; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy.
  • Bruselles A; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada.
  • Priest JR; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy.
  • Pennacchio LA; Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, California, 94305.
  • Lu Z; Child Health Research Institute, Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, California, 94305.
  • Danesh A; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, 94720.
  • Quevedo R; US Department of Energy Joint Genome Institute, Walnut Creek, California, 94598.
  • Hamid A; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada.
  • Martinelli S; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada.
  • Pantaleoni F; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada.
  • Gnazzo M; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada.
  • Daniele P; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy.
  • Lissewski C; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy.
  • Bocchinfuso G; Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, 00165, Italy.
  • Stella L; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, 00161, Italy.
  • Odent S; Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, Magdeburg, 39106, Germany.
  • Philip N; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma 'Tor Vergata', Rome, 00133, Italy.
  • Faivre L; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma 'Tor Vergata', Rome, 00133, Italy.
  • Vlckova M; Service de Génétique Clinique, Hôpital SUD, Rennes, 35200, France.
  • Seemanova E; Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille 13385, France.
  • Digilio C; Centre de Génétique, Hôpital d'Enfants, Dijon, 21000, France.
  • Zenker M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, 150 06, Czech Republic.
  • Zampino G; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, 150 06, Czech Republic.
  • Verloes A; Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, 00165, Italy.
  • Dallapiccola B; Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, Magdeburg, 39106, Germany.
  • Roberts AE; Istituto di Pediatria, Università Cattolica del Sacro Cuore, Rome, 00168, Italy.
  • Cavé H; Département de Génétique, Hôpital Robert Debré, Paris, 75019, France.
  • Gelb BD; Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, 00165, Italy.
  • Neel BG; Department of Cardiology and Division of Genetics, Boston Children's Hospital, Boston, Massachusetts, 02115.
  • Tartaglia M; Département de Génétique, Hôpital Robert Debré, Paris, 75019, France.
Hum Mutat ; 36(11): 1080-7, 2015 Nov.
Article en En | MEDLINE | ID: mdl-26173643
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Son Of Sevenless / Dominios y Motivos de Interacción de Proteínas / Estudios de Asociación Genética / Mutación / Síndrome de Noonan Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Son Of Sevenless / Dominios y Motivos de Interacción de Proteínas / Estudios de Asociación Genética / Mutación / Síndrome de Noonan Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia