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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Zhu, Na; Swietlik, Emilia M; Welch, Carrie L; Pauciulo, Michael W; Hagen, Jacob J; Zhou, Xueya; Guo, Yicheng; Karten, Johannes; Pandya, Divya; Tilly, Tobias; Lutz, Katie A; Martin, Jennifer M; Treacy, Carmen M; Rosenzweig, Erika B; Krishnan, Usha; Coleman, Anna W; Gonzaga-Jauregui, Claudia; Lawrie, Allan; Trembath, Richard C; Wilkins, Martin R; Morrell, Nicholas W; Shen, Yufeng; Gräf, Stefan; Nichols, William C; Chung, Wendy K.
Afiliação
  • Zhu N; Department of Pediatrics, Columbia University Irving Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA.
  • Swietlik EM; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Welch CL; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Pauciulo MW; Department of Pediatrics, Columbia University Irving Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA.
  • Hagen JJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Zhou X; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Guo Y; Department of Pediatrics, Columbia University Irving Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA.
  • Karten J; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Pandya D; Department of Pediatrics, Columbia University Irving Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA.
  • Tilly T; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Lutz KA; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Martin JM; 42Genetics, Belfast, Ireland.
  • Treacy CM; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Rosenzweig EB; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Krishnan U; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Coleman AW; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Gonzaga-Jauregui C; NIHR BioResource for Translational Research, Cambridge Biomedical Campus, Cambridge, UK.
  • Lawrie A; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Trembath RC; Department of Pediatrics, Columbia University Irving Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA.
  • Wilkins MR; Department of Pediatrics, Columbia University Irving Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA.
  • Morrell NW; National Heart & Lung Institute, Imperial College London, London, UK.
Genome Med ; 13(1): 80, 2021 05 10.
Article em En | MEDLINE | ID: mdl-33971972
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Proteínas de Ligação ao Cálcio / Fator de Crescimento Derivado de Plaquetas / Biomarcadores / Proteínas da Matriz Extracelular / Linfocinas / Predisposição Genética para Doença / Hipertensão Arterial Pulmonar Tipo de estudo: Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged País como assunto: America do norte / Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Proteínas de Ligação ao Cálcio / Fator de Crescimento Derivado de Plaquetas / Biomarcadores / Proteínas da Matriz Extracelular / Linfocinas / Predisposição Genética para Doença / Hipertensão Arterial Pulmonar Tipo de estudo: Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged País como assunto: America do norte / Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article