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Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
Klämbt, Verena; Buerger, Florian; Wang, Chunyan; Naert, Thomas; Richter, Karin; Nauth, Theresa; Weiss, Anna-Carina; Sieckmann, Tobias; Lai, Ethan; Connaughton, Dervla M; Seltzsam, Steve; Mann, Nina; Majmundar, Amar J; Wu, Chen-Han W; Onuchic-Whitford, Ana C; Shril, Shirlee; Schneider, Sophia; Schierbaum, Luca; Dai, Rufeng; Bekheirnia, Mir Reza; Joosten, Marieke; Shlomovitz, Omer; Vivante, Asaf; Banne, Ehud; Mane, Shrikant; Lifton, Richard P; Kirschner, Karin M; Kispert, Andreas; Rosenberger, Georg; Fischer, Klaus-Dieter; Lienkamp, Soeren S; Zegers, Mirjam M P; Hildebrandt, Friedhelm.
Afiliação
  • Klämbt V; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Buerger F; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Wang C; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin, Germany.
  • Naert T; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Richter K; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Nauth T; Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Weiss AC; Institute of Anatomy, Faculty of Medicine, University of Zurich, Zurich, Switzerland.
  • Sieckmann T; Institute for Biochemistry and Cell Biology, Medical Faculty, Otto-von-Guericke University, Magdeburg, Germany.
  • Lai E; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Connaughton DM; Institut für Molekularbiologie, Medizinische Hochschule Hannover, Hannover, Germany.
  • Seltzsam S; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Translatationale Physiologie, Berlin, Germany.
  • Mann N; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Majmundar AJ; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Wu CW; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Onuchic-Whitford AC; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Shril S; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Schneider S; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Schierbaum L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Dai R; Departments of Genetics and Urology, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, Ohio.
  • Bekheirnia MR; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Joosten M; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Shlomovitz O; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Vivante A; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Banne E; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Mane S; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Lifton RP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Kirschner KM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Kispert A; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sackler Faculty of Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Rosenberger G; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Fischer KD; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sackler Faculty of Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Lienkamp SS; The Genetics Institute, Kaplan Medical Center-Rehovot, Hebrew University and Hadassah Medical School, Jerusalem, Israel.
  • Zegers MMP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
  • Hildebrandt F; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut.
J Am Soc Nephrol ; 34(2): 273-290, 2023 02 01.
Article em En | MEDLINE | ID: mdl-36414417

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Am Soc Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Am Soc Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2023 Tipo de documento: Article