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Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart, Douglas R; Brems, Hilde; Gomes, Alicia G; Ruppert, Sarah L; Callens, Tom; Williams, Jennifer; Claes, Kathleen; Bober, Michael B; Hachen, Rachel; Kaban, Leonard B; Li, Hua; Lin, Angela; McDonald, Marie; Melancon, Serge; Ortenberg, June; Radtke, Heather B; Samson, Ignace; Saul, Robert A; Shen, Joseph; Siqveland, Elizabeth; Toler, Tomi L; van Maarle, Merel; Wallace, Margaret; Williams, Misti; Legius, Eric; Messiaen, Ludwine.
  • Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.
  • Brems H; 1] Department of Human Genetics, University of Leuven, Leuven, Belgium [2] Center for Human Genetics, Leuven University Hospitals, Leuven, Belgium.
  • Gomes AG; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Alabama, USA.
  • Ruppert SL; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Callens T; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Alabama, USA.
  • Williams J; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Alabama, USA.
  • Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Bober MB; Division of Medical Genetics, Department of Pediatrics A.I. duPont Hospital for Children, Wilmington, Delaware, USA.
  • Hachen R; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Kaban LB; Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Li H; Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Lin A; Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA.
  • McDonald M; 1] Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA [2] Department of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
  • Melancon S; 1] Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada [2] Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
  • Ortenberg J; 1] Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada [2] Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
  • Radtke HB; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.
  • Samson I; Department of Orthopedic Surgery, University Hospitals Leuven, Leuven, Belgium.
  • Saul RA; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Shen J; Medical Genetics/Metabolism, Children's Hospital Central California, Madera, California, USA.
  • Siqveland E; Children's Hospitals and Clinics of Minnesota, Department of Genetics, Minneapolis, Minnesota, USA.
  • Toler TL; Division of Medical Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • van Maarle M; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
  • Wallace M; Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Williams M; LewisGale Regional Health System, Department of Clinical Genetics, Salem, Virginia, USA.
  • Legius E; 1] Department of Human Genetics, University of Leuven, Leuven, Belgium [2] Center for Human Genetics, Leuven University Hospitals, Leuven, Belgium.
  • Messiaen L; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Alabama, USA.
Genet Med ; 16(6): 448-59, 2014 Jun.
Article en En | MEDLINE | ID: mdl-24232412
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Manchas Café con Leche / Subunidades alfa de la Proteína de Unión al GTP Gs / Neurofibromina 1 / Péptidos y Proteínas de Señalización Intracelular / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Manchas Café con Leche / Subunidades alfa de la Proteína de Unión al GTP Gs / Neurofibromina 1 / Péptidos y Proteínas de Señalización Intracelular / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2014 Tipo del documento: Article