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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi, Simone; Khan, Kamal; Westland, Rik; Krithivasan, Priya; Fievet, Lorraine; Rasouly, Hila Milo; Ionita-Laza, Iuliana; Capone, Valentina P; Fasel, David A; Kiryluk, Krzysztof; Kamalakaran, Sitharthan; Bodria, Monica; Otto, Edgar A; Sampson, Matthew G; Gillies, Christopher E; Vega-Warner, Virginia; Vukojevic, Katarina; Pediaditakis, Igor; Makar, Gabriel S; Mitrotti, Adele; Verbitsky, Miguel; Martino, Jeremiah; Liu, Qingxue; Na, Young-Ji; Goj, Vinicio; Ardissino, Gianluigi; Gigante, Maddalena; Gesualdo, Loreto; Janezcko, Magdalena; Zaniew, Marcin; Mendelsohn, Cathy Lee; Shril, Shirlee; Hildebrandt, Friedhelm; van Wijk, Joanna A E; Arapovic, Adela; Saraga, Marijan; Allegri, Landino; Izzi, Claudia; Scolari, Francesco; Tasic, Velibor; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Mane, Shrikant; Goldstein, David B; Lifton, Richard P; Katsanis, Nicholas; Davis, Erica E; Gharavi, Ali G.
Afiliación
  • Sanna-Cherchi S; Division of Nephrology, Columbia University, New York, NY 10032, USA. Electronic address: ss2517@cumc.columbia.edu.
  • Khan K; Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA.
  • Westland R; Division of Nephrology, Columbia University, New York, NY 10032, USA; Department of Pediatric Nephrology, VU University Medical Center, Amsterdam 1007 MB, the Netherlands.
  • Krithivasan P; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Fievet L; Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA.
  • Rasouly HM; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Ionita-Laza I; Department of Biostatistics, Columbia University, New York, NY 10032, USA.
  • Capone VP; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Fasel DA; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Kiryluk K; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Kamalakaran S; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Bodria M; Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa 16147, Italy.
  • Otto EA; University of Michigan School of Medicine, Department of Internal Medicine-Nephrology, Ann Arbor, MI 48109, USA.
  • Sampson MG; University of Michigan School of Medicine, Department of Pediatrics-Nephrology, Ann Arbor, MI 48109, USA.
  • Gillies CE; University of Michigan School of Medicine, Department of Pediatrics-Nephrology, Ann Arbor, MI 48109, USA.
  • Vega-Warner V; University of Michigan School of Medicine, Department of Pediatrics-Nephrology, Ann Arbor, MI 48109, USA.
  • Vukojevic K; Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split, Split 21000, Croatia.
  • Pediaditakis I; Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA.
  • Makar GS; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Mitrotti A; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Verbitsky M; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Martino J; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Liu Q; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Na YJ; Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Goj V; Pediatric Unit, Fatebenefratelli Hospital, Milan 20121, Italy.
  • Ardissino G; Pediatric Nephrology and Dialysis Unit, Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico Milano, 20122 Milan, Italy.
  • Gigante M; Department of Medical and Surgical Sciences, University of Foggia, Foggia 71121, Italy.
  • Gesualdo L; Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari 70121, Italy.
  • Janezcko M; Department of Medical Genetics, Chair of Pediatrics, Jagiellonian University, Collegium Medicum, Krakow 31-008, Poland.
  • Zaniew M; Children's Hospital, Poznan 61-825, Poland.
  • Mendelsohn CL; Department of Urology, Pathology and Cell Biology, Genetics and Development, Columbia University, New York, NY 10032, USA.
  • Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • van Wijk JAE; Department of Pediatric Nephrology, VU University Medical Center, Amsterdam 1007 MB, the Netherlands.
  • Arapovic A; Department of Pediatrics, University Hospital of Split, Split 21000, Croatia.
  • Saraga M; Department of Pediatrics, University Hospital of Split, Split 21000, Croatia; School of Medicine, University of Split, Split 21000, Croatia.
  • Allegri L; Department of Medicine and Surgery, University of Parma, Parma 43100, Italy.
  • Izzi C; Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia 25018, Italy; Dipartimento Ostetrico Ginecologico, Azienda Ospedaliera Spedali Civili di Brescia, Brescia 25018, Italy.
  • Scolari F; Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia 25018, Italy.
  • Tasic V; Department of Pediatric Nephrology, University Children's Hospital, Medical Faculty of Skopje, Skopje 1000, Macedonia.
  • Ghiggeri GM; Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa 16147, Italy.
  • Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS, Poznan 61-701, Poland.
  • Materna-Kiryluk A; Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS, Poznan 61-701, Poland.
  • Mane S; Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
  • Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Lifton RP; Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
  • Katsanis N; Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA.
  • Davis EE; Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA. Electronic address: erica.davis@duke.edu.
  • Gharavi AG; Division of Nephrology, Columbia University, New York, NY 10032, USA.
Am J Hum Genet ; 101(5): 789-802, 2017 Nov 02.
Article en En | MEDLINE | ID: mdl-29100090
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Exoma / Riñón / Enfermedades Renales / Mutación / Proteínas de Neoplasias Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Exoma / Riñón / Enfermedades Renales / Mutación / Proteínas de Neoplasias Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article