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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
Mann, Nina; Mzoughi, Slim; Schneider, Ronen; Kühl, Susanne J; Schanze, Denny; Klämbt, Verena; Lovric, Svjetlana; Mao, Youying; Shi, Shasha; Tan, Weizhen; Kühl, Michael; Onuchic-Whitford, Ana C; Treimer, Ernestine; Kitzler, Thomas M; Kause, Franziska; Schumann, Sven; Nakayama, Makiko; Buerger, Florian; Shril, Shirlee; van der Ven, Amelie T; Majmundar, Amar J; Holton, Kristina Marie; Kolb, Amy; Braun, Daniela A; Rao, Jia; Jobst-Schwan, Tilman; Mildenberger, Eva; Lennert, Thomas; Kuechler, Alma; Wieczorek, Dagmar; Gross, Oliver; Ermisch-Omran, Beate; Werberger, Anja; Skalej, Martin; Janecke, Andreas R; Soliman, Neveen A; Mane, Shrikant M; Lifton, Richard P; Kadlec, Jan; Guccione, Ernesto; Schmeisser, Michael J; Zenker, Martin; Hildebrandt, Friedhelm.
Affiliation
  • Mann N; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Mzoughi S; Methyltransferases in Development and Disease Group, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore.
  • Schneider R; Mount Sinai Center for Therapeutics Discovery, Departments of Pharmacological Sciences and Oncological Sciences, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Kühl SJ; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Schanze D; Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
  • Klämbt V; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Lovric S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Mao Y; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Shi S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Tan W; Grenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France.
  • Kühl M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Onuchic-Whitford AC; Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
  • Treimer E; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Kitzler TM; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Kause F; Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
  • Schumann S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Nakayama M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Buerger F; Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
  • Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • van der Ven AT; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Majmundar AJ; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Holton KM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Kolb A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Braun DA; Research Computing, Harvard Medical School, Boston, Massachusetts.
  • Rao J; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Jobst-Schwan T; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Mildenberger E; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Lennert T; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Kuechler A; Division of Neonatology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
  • Wieczorek D; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Gross O; Institute of Human Genetics, University of Duisburg-Essen, Essen, Germany.
  • Ermisch-Omran B; Institute of Human Genetics, Faculty of Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Werberger A; Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, University of Goettingen, Goettingen, Germany.
  • Skalej M; Department of Pediatric Nephrology, University Children's Hospital, Münster, Germany.
  • Janecke AR; Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
  • Soliman NA; Institute of Neuroradiology, Otto von Guericke University Magdeburg, Magdeburg, Germany.
  • Mane SM; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Lifton RP; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.
  • Kadlec J; The Egyption Group for Orphan Renal Diseases (EGORD), Cairo, Egypt.
  • Guccione E; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
  • Schmeisser MJ; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
  • Zenker M; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York.
  • Hildebrandt F; Grenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France.
J Am Soc Nephrol ; 32(3): 580-596, 2021 03.
Article in En | MEDLINE | ID: mdl-33593823
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Mutation, Missense / DNA-Binding Proteins / Hernia, Hiatal / Microcephaly / Nephrosis Type of study: Prognostic_studies Limits: Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Am Soc Nephrol Journal subject: NEFROLOGIA Year: 2021 Document type: Article
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Mutation, Missense / DNA-Binding Proteins / Hernia, Hiatal / Microcephaly / Nephrosis Type of study: Prognostic_studies Limits: Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Am Soc Nephrol Journal subject: NEFROLOGIA Year: 2021 Document type: Article