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The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
Stevenson, David A; Schill, Lisa; Schoyer, Lisa; Andresen, Brage S; Bakker, Annette; Bayrak-Toydemir, Pinar; Burkitt-Wright, Emma; Chatfield, Kathryn; Elefteriou, Florent; Elgersma, Ype; Fisher, Michael J; Franz, David; Gelb, Bruce D; Goriely, Anne; Gripp, Karen W; Hardan, Antonio Y; Keppler-Noreuil, Kim M; Kerr, Bronwyn; Korf, Bruce; Leoni, Chiara; McCormick, Frank; Plotkin, Scott R; Rauen, Katherine A; Reilly, Karlyne; Roberts, Amy; Sandler, Abby; Siegel, Dawn; Walsh, Karin; Widemann, Brigitte C.
Afiliação
  • Stevenson DA; Stanford University, Stanford, California.
  • Schill L; RASopathies Network, California.
  • Schoyer L; RASopathies Network, California.
  • Andresen BS; University of Southern Denmark, Odense, Denmark.
  • Bakker A; Children's Tumor Foundation, New York, New York.
  • Bayrak-Toydemir P; Department of Pathology, University of Utah, Salt Lake City, Utah.
  • Burkitt-Wright E; University of Manchester, United Kingdom.
  • Chatfield K; University of Colorado, Denver, Colorado.
  • Elefteriou F; Baylor College of Medicine, Houston, Texas.
  • Elgersma Y; Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Fisher MJ; Children's Hospital of Philadelphia, The Perelman School of Medicine at the University of Pennsylvania, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Franz D; University of Cincinnati, Cincinnati, Ohio.
  • Gelb BD; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Goriely A; University of Oxford, Oxford, United Kingdom.
  • Gripp KW; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
  • Hardan AY; Stanford University, Stanford, California.
  • Keppler-Noreuil KM; National Human Genome Research Institute, NIH, Bethesda, Maryland.
  • Kerr B; University of Manchester, United Kingdom.
  • Korf B; University of Alabama-Birmingham, Alabama.
  • Leoni C; Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
  • McCormick F; National Cancer Institute, NIH, Bethesda, Maryland.
  • Plotkin SR; Massachussets General Hospital, Boston, Massachusetts.
  • Rauen KA; Division of Genomic Medicine, Department of Pediatrics, UC Davis, Sacramento, California.
  • Reilly K; National Cancer Institute, NIH, Bethesda, Maryland.
  • Roberts A; Boston Children's Hospital, Boston, Massachusetts.
  • Sandler A; National Cancer Institute, NIH, Bethesda, Maryland.
  • Siegel D; Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Walsh K; George Washington University Medical School, Washington, District of Columbia.
  • Widemann BC; National Cancer Institute, NIH, Bethesda, Maryland.
Am J Med Genet A ; 170(8): 1959-66, 2016 08.
Article em En | MEDLINE | ID: mdl-27155140
ABSTRACT
The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field. © 2016 Wiley Periodicals, Inc.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Proteínas ras / Proteínas Quinases Ativadas por Mitógeno / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Proteínas ras / Proteínas Quinases Ativadas por Mitógeno / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article