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Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane, John; Ott, Elisabeth; Olinger, Eric G; Epting, Daniel; Decker, Eva; Friedrich, Anja; Bachmann, Nadine; Renschler, Gina; Eisenberger, Tobias; Briem-Richter, Andrea; Grabhorn, Enke Freya; Powell, Laura; Wilson, Ian J; Rice, Sarah J; Miles, Colin G; Wood, Katrina; Trivedi, Palak; Hirschfield, Gideon; Pietrobattista, Andrea; Wohler, Elizabeth; Mezina, Anya; Sobreira, Nara; Agolini, Emanuele; Maggiore, Giuseppe; Dahmer-Heath, Mareike; Yilmaz, Ali; Boerries, Melanie; Metzger, Patrick; Schell, Christoph; Grünewald, Inga; Konrad, Martin; König, Jens; Schlevogt, Bernhard; Sayer, John A; Bergmann, Carsten.
Afiliação
  • Devane J; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, Germany.
  • Ott E; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, Germany.
  • Olinger EG; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Epting D; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, Germany.
  • Decker E; Medizinische Genetik Mainz, Limbach Genetics, 55128 Mainz, Germany.
  • Friedrich A; Medizinische Genetik Mainz, Limbach Genetics, 55128 Mainz, Germany.
  • Bachmann N; Medizinische Genetik Mainz, Limbach Genetics, 55128 Mainz, Germany.
  • Renschler G; Medizinische Genetik Mainz, Limbach Genetics, 55128 Mainz, Germany.
  • Eisenberger T; Medizinische Genetik Mainz, Limbach Genetics, 55128 Mainz, Germany.
  • Briem-Richter A; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, 20251 Hamburg, Germany.
  • Grabhorn EF; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, 20251 Hamburg, Germany.
  • Powell L; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Wilson IJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Rice SJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Miles CG; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Wood K; Histopathology Department, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.
  • Trivedi P; NIHR Birmingham BRC, Centre for Liver and Gastrointestinal Research, University of Birmingham, Birmingham B15 2TT, UK; Liver Unit, University Hospitals Birmingham, Birmingham B15 2GW, UK; Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham B15 2TT, UK; Institute of Applie
  • Hirschfield G; Toronto Centre for Liver Disease, University Health Network, Toronto, ON M6H 3M1, Canada.
  • Pietrobattista A; Hepatogastroenterology and Liver Transplant Unit and Medical Genetics Laboratory, IRCCS Bambino Gesù Children's Hospital, 00165 Rome, Italy.
  • Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Mezina A; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
  • Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Maggiore G; Hepatogastroenterology and Liver Transplant Unit and Medical Genetics Laboratory, IRCCS Bambino Gesù Children's Hospital, 00165 Rome, Italy.
  • Dahmer-Heath M; Department of General Pediatrics, University Hospital Münster, 48149 Münster, Germany.
  • Yilmaz A; Department of Cardiology I, University Hospital Münster, 48149 Münster, Germany.
  • Boerries M; Institute of Medical Bioinformatics and Systems Medicine Medical Center - University of Freiburg, Medical Faculty, University of Freiburg, 79110 Freiburg, Germany; The German Cancer Consortium, Partner Site Freiburg and Cancer Research Center, 69120 Heidelberg, Germany.
  • Metzger P; Institute of Medical Bioinformatics and Systems Medicine Medical Center - University of Freiburg, Medical Faculty, University of Freiburg, 79110 Freiburg, Germany.
  • Schell C; Institute for Pathology, Medical Center - University of Freiburg, Medical Faculty, University of Freiburg, 79002 Freiburg, Germany.
  • Grünewald I; Institute for Pathology, University Hospital Münster, 48149 Münster, Germany.
  • Konrad M; Department of General Pediatrics, University Hospital Münster, 48149 Münster, Germany.
  • König J; Department of General Pediatrics, University Hospital Münster, 48149 Münster, Germany.
  • Schlevogt B; Department of Internal Medicine B, Gastroenterology, University Hospital Münster, 48149 Münster, Germany.
  • Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK; Newcastle Biomedical Research Centre, NIHR, Newcastle upon Tyne
  • Bergmann C; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, Germany; Medizinische Genetik Mainz, Limbach Genetics, 55128 Mainz, Germany. Electronic address: carsten.bergmann@medgen-mainz.de.
Am J Hum Genet ; 109(5): 928-943, 2022 05 05.
Article em En | MEDLINE | ID: mdl-35397207
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Cílios Tipo de estudo: Prognostic_studies / Screening_studies Limite: Adult / Animals / Child / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Cílios Tipo de estudo: Prognostic_studies / Screening_studies Limite: Adult / Animals / Child / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha