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Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.
Kelsen, Judith R; Dawany, Noor; Moran, Christopher J; Petersen, Britt-Sabina; Sarmady, Mahdi; Sasson, Ariella; Pauly-Hubbard, Helen; Martinez, Alejandro; Maurer, Kelly; Soong, Joanne; Rappaport, Eric; Franke, Andre; Keller, Andreas; Winter, Harland S; Mamula, Petar; Piccoli, David; Artis, David; Sonnenberg, Gregory F; Daly, Mark; Sullivan, Kathleen E; Baldassano, Robert N; Devoto, Marcella.
Afiliación
  • Kelsen JR; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia. Electronic address: Kelsen@email.chop.edu.
  • Dawany N; Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia.
  • Moran CJ; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Massachusetts General Hospital for Children.
  • Petersen BS; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Germany.
  • Sarmady M; Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia.
  • Sasson A; Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia.
  • Pauly-Hubbard H; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia.
  • Martinez A; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia.
  • Maurer K; Division of Immunology and Allergy, The Children's Hospital of Philadelphia.
  • Soong J; Joan and Sanford I. Weill Department of Medicine, Division of Gastroenterology and Hepatology, Department of Microbiology and Immunology, and The Jill Robert's Institute for Research in Inflammatory Bowel Disease, Weill Cornell Medical College, New York, New York.
  • Rappaport E; Nucleic Acid/Polymerase Chain Reaction Core, The Children's Hospital of Philadelphia.
  • Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Germany.
  • Keller A; Department of Clinical Bioinformatics, Saarland University, Germany.
  • Winter HS; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Massachusetts General Hospital for Children.
  • Mamula P; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia.
  • Piccoli D; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia.
  • Artis D; Joan and Sanford I. Weill Department of Medicine, Division of Gastroenterology and Hepatology, Department of Microbiology and Immunology, and The Jill Robert's Institute for Research in Inflammatory Bowel Disease, Weill Cornell Medical College, New York, New York.
  • Sonnenberg GF; Joan and Sanford I. Weill Department of Medicine, Division of Gastroenterology and Hepatology, Department of Microbiology and Immunology, and The Jill Robert's Institute for Research in Inflammatory Bowel Disease, Weill Cornell Medical College, New York, New York.
  • Daly M; Analytic and Translational Unit Center for Human Genetic Research Department of Medicine, Massachusetts General Hospital; The Broad Institute of MIT and Harvard.
  • Sullivan KE; Division of Immunology and Allergy, The Children's Hospital of Philadelphia.
  • Baldassano RN; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia.
  • Devoto M; Division of Human Genetics, The Children's Hospital of Philadelphia; Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.
Gastroenterology ; 149(6): 1415-24, 2015 Nov.
Article en En | MEDLINE | ID: mdl-26193622
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Envejecimiento / Enfermedades Inflamatorias del Intestino / Exoma / Síndromes de Inmunodeficiencia / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Región como asunto: Europa Idioma: En Revista: Gastroenterology Año: 2015 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Envejecimiento / Enfermedades Inflamatorias del Intestino / Exoma / Síndromes de Inmunodeficiencia / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Región como asunto: Europa Idioma: En Revista: Gastroenterology Año: 2015 Tipo del documento: Article