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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; van Kraaij, Sanne; Lefeber, Dirk J; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G Christoph; Chung, Brian H Y; Mak, Christopher C Y; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Björn; Strom, Tim M; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E; Leung, Peter K C; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A.
Afiliação
  • Van Damme T; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
  • Gardeitchik T; Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Mohamed M; Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Guerrero-Castillo S; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Freisinger P; Childrens' Hospital, Klinikum am Steinenberg, Reutlingen 72764, Germany.
  • Guillemyn B; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
  • Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran 14656, Iran.
  • Dalloyaux D; Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • van Kraaij S; Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Lefeber DJ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Syx D; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
  • Steyaert W; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
  • De Rycke R; Department of Biomedical Molecular Biology, Ghent University, Ghent 9000, Belgium; Inflammation Research Center, VIB, Ghent 9000, Belgium.
  • Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Wong SY; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA 70112, USA.
  • van Scherpenzeel M; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Jamali P; Shahrood Genetic Counseling Center, Semnan 36156, Iran.
  • Brandt U; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Nijtmans L; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Korenke GC; Department of Neuropediatrics, Children's Hospital Klinikum Oldenburg, Oldenburg 26133, Germany.
  • Chung BHY; Department of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
  • Mak CCY; Department of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
  • Hausser I; Institute of Pathology, Universitätsklinikum Heidelberg, Heidelberg 69120, Germany.
  • Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin 13353, Germany; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
  • Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin 13353, Germany; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany.
  • Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany.
  • Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul 34752, Turkey.
  • Utine GE; Pediatric Genetics Unit, Department of Pediatrics, Ihsan Dogramaci Children's Hospital, Hacettepe School of Medicine, Ankara 06100, Turkey.
  • Leung PKC; Department of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
  • Ghaderi-Sohi S; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran 14656, Iran.
  • Coucke P; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
  • Symoens S; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
  • De Paepe A; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
  • Thiel C; Center for Child and Adolescent Medicine, Klinik Kinderheilkunde I, Universitätsklinikum Heidelberg, Heidelberg 69120, Germany.
  • Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany; Institute of Human Genetics, Technische Universität München, Munich 81675, Germany; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.
  • Malfait F; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
  • Morava E; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA 70112, USA; Department of Pediatrics, University Hospital Leuven, Leuven 3000, Belgium.
  • Callewaert B; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium. Electronic address: bert.callewaert@ugent.be.
  • Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands. Electronic address: ron.wevers@radboudumc.nl.
Am J Hum Genet ; 100(2): 216-227, 2017 02 02.
Article em En | MEDLINE | ID: mdl-28065471
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Cútis Laxa / ATPases Vacuolares Próton-Translocadoras Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Estados Unidos
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Cútis Laxa / ATPases Vacuolares Próton-Translocadoras Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Estados Unidos