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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Ouahed, Jodie; Kelsen, Judith R; Spessott, Waldo A; Kooshesh, Kameron; Sanmillan, Maria L; Dawany, Noor; Sullivan, Kathleen E; Hamilton, Kathryn E; Slowik, Voytek; Nejentsev, Sergey; Neves, João Farela; Flores, Helena; Chung, Wendy K; Wilson, Ashley; Anyane-Yeboa, Kwame; Wou, Karen; Jain, Preti; Field, Michael; Tollefson, Sophia; Dent, Maiah H; Li, Dalin; Naito, Takeo; McGovern, Dermot P B; Kwong, Andrew C; Taliaferro, Faith; Ordovas-Montanes, Jose; Horwitz, Bruce H; Kotlarz, Daniel; Klein, Christoph; Evans, Jonathan; Dorsey, Jill; Warner, Neil; Elkadri, Abdul; Muise, Aleixo M; Goldsmith, Jeffrey; Thompson, Benjamin; Engelhardt, Karin R; Cant, Andrew J; Hambleton, Sophie; Barclay, Andrew; Toth-Petroczy, Agnes; Vuzman, Dana; Carmichael, Nikkola; Bodea, Corneliu; Cassa, Christopher A; Devoto, Marcella; Maas, Richard L; Behrens, Edward M; Giraudo, Claudio G; Snapper, Scott B.
Afiliação
  • Ouahed J; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
  • Kelsen JR; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Spessott WA; Department of Microbiology and Immunology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, 19107, USA.
  • Kooshesh K; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
  • Sanmillan ML; Department of Microbiology and Immunology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, 19107, USA.
  • Dawany N; Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
  • Sullivan KE; Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Hamilton KE; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Slowik V; Department of Medicine, Division of Gastroenterology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Nejentsev S; Division of Gastroenterology, Hepatology, and Nutrition, Children's Mercy Kansas City, Kansas City, MO, 64108, USA.
  • Neves JF; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, UK.
  • Flores H; Department of Molecular Cell Biology and Immunology, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
  • Chung WK; Primary Immunodeficiencies Unit; Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
  • Wilson A; CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, 1150, Portugal.
  • Anyane-Yeboa K; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
  • Wou K; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
  • Jain P; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
  • Field M; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
  • Tollefson S; Department of Pediatrics, Columbia University Medical Center, New York, NY, 10032, USA.
  • Dent MH; Department of Medicine, Columbia University Medical Center, New York, NY, 10032, USA.
  • Li D; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
  • Naito T; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
  • McGovern DPB; Department of Genetics, Yale University, New Haven, CT, 06510, USA.
  • Kwong AC; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.
  • Taliaferro F; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.
  • Ordovas-Montanes J; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.
  • Horwitz BH; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
  • Kotlarz D; Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, 02115, USA.
  • Klein C; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Evans J; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
  • Dorsey J; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Warner N; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
  • Elkadri A; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Muise AM; Program in Immunology, Harvard Medical School, Boston, MA, 02115, USA.
  • Goldsmith J; Harvard Stem Cell Institute, Cambridge, MA, 02138, USA.
  • Thompson B; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
  • Engelhardt KR; Division of Emergency Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
  • Cant AJ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
  • Hambleton S; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, 80337, Germany.
  • Barclay A; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, 80337, Germany.
  • Toth-Petroczy A; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL 32207, USA.
  • Vuzman D; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL 32207, USA.
  • Carmichael N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
  • Bodea C; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
  • Cassa CA; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
  • Devoto M; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
  • Maas RL; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
  • Behrens EM; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
  • Giraudo CG; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Snapper SB; Primary Immunodeficiency Group, III Theme, Institute of Cellular Medicine, Newcastle University, Newcastle, NE2 4HH, UK.
J Crohns Colitis ; 15(11): 1908-1919, 2021 Nov 08.
Article em En | MEDLINE | ID: mdl-33891011
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Inflamatórias Intestinais / Proteínas Qa-SNARE / Perda Auditiva Neurossensorial / Doenças do Sistema Imunitário Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: J Crohns Colitis Assunto da revista: GASTROENTEROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Inflamatórias Intestinais / Proteínas Qa-SNARE / Perda Auditiva Neurossensorial / Doenças do Sistema Imunitário Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: J Crohns Colitis Assunto da revista: GASTROENTEROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos