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Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue, Whitney; VanSant-Webb, Chad; Tvrdik, Tatiana; Plant, Parker; Lewis, Tracey; Stocks, Jennifer; Raney, Joshua A; Meyers, Lindsay; Berg, Alizabeth; Rope, Alan F; Yetman, Anji T; Bleyl, Steven B; Mesley, Rebecca; Bull, David A; Collins, R Thomas; Ojeda, Mayra Martinez; Roberts, Amy; Lacro, Ronald; Woerner, Audrey; Stoler, Joan; Bayrak-Toydemir, Pinar.
Afiliación
  • Wooderchak-Donahue W; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
  • VanSant-Webb C; Department of Pathology, University of Utah, Salt Lake City, Utah.
  • Tvrdik T; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
  • Plant P; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
  • Lewis T; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
  • Stocks J; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
  • Raney JA; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
  • Meyers L; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
  • Berg A; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
  • Rope AF; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
  • Yetman AT; Department of Medical Genetics, Kaiser Permanente, Portland, Oregon.
  • Bleyl SB; Department of Pediatrics, Division of Cardiology, University of Utah, Salt Lake City, Utah.
  • Mesley R; Department of Pediatrics, Division of Cardiology, University of Utah, Salt Lake City, Utah.
  • Bull DA; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah.
  • Collins RT; Department of Surgery, Division of Cardiothoracic Surgery, University of Utah, Salt Lake City, Utah.
  • Ojeda MM; Department of Surgery, Division of Cardiothoracic Surgery, University of Utah, Salt Lake City, Utah.
  • Roberts A; Department of Pediatrics and Internal Medicine, Cardiology Division, Arkansas Children's Hospital, Little Rock, Arkansas.
  • Lacro R; Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.
  • Woerner A; Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.
  • Stoler J; Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.
  • Bayrak-Toydemir P; Division of Genetics, Boston Children's Hospital, Boston, Massachusetts.
Am J Med Genet A ; 167A(8): 1747-57, 2015 Aug.
Article en En | MEDLINE | ID: mdl-25944730

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades de la Aorta / Análisis de Secuencia de ADN / Síndrome de Marfan Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades de la Aorta / Análisis de Secuencia de ADN / Síndrome de Marfan Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article