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Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Kolvenbach, Caroline M; van der Ven, Amelie T; Kause, Franziska; Shril, Shirlee; Scala, Marcello; Connaughton, Dervla M; Mann, Nina; Nakayama, Makiko; Dai, Rufeng; Kitzler, Thomas M; Schneider, Ronen; Schierbaum, Luca; Schneider, Sophia; Accogli, Andrea; Torella, Annalaura; Piatelli, Gianluca; Nigro, Vincenzo; Capra, Valeria; Hoppe, Bernd; Märzheuser, Stefanie; Schmiedeke, Eberhard; Rehm, Heidi L; Mane, Shrikant; Lifton, Richard P; Dworschak, Gabriel C; Hilger, Alina C; Reutter, Heiko; Hildebrandt, Friedhelm.
Afiliação
  • Kolvenbach CM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • van der Ven AT; Department of Pediatrics, University Hospital Bonn, Bonn, Germany.
  • Kause F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Scala M; Department of Pediatrics, University Hospital Bonn, Bonn, Germany.
  • Connaughton DM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Mann N; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
  • Nakayama M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannia Gaslini, University of Genoa, Genoa, Italy.
  • Dai R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Kitzler TM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schneider R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schierbaum L; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schneider S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Accogli A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Torella A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Piatelli G; Department of Pediatrics, University Hospital Bonn, Bonn, Germany.
  • Nigro V; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Capra V; Department of Pediatrics, University Hospital Bonn, Bonn, Germany.
  • Hoppe B; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
  • Märzheuser S; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Schmiedeke E; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Rehm HL; Department of Neurosurgery, Gaslini Children's Hospital, Genoa, Italy.
  • Mane S; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Lifton RP; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Dworschak GC; Medical Genetics Unit, IRCCS Gianna Gaslini Institute, Genoa, Italy.
  • Hilger AC; Kindernierenzentrum Bonn, Bonn, Germany.
  • Reutter H; Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany.
  • Hildebrandt F; Department of Pediatric Surgery and Urology, Center for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany.
Am J Med Genet A ; 185(12): 3784-3792, 2021 12.
Article em En | MEDLINE | ID: mdl-34338422
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article