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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Connaughton, Dervla M; Dai, Rufeng; Owen, Danielle J; Marquez, Jonathan; Mann, Nina; Graham-Paquin, Adda L; Nakayama, Makiko; Coyaud, Etienne; Laurent, Estelle M N; St-Germain, Jonathan R; Blok, Lot Snijders; Vino, Arianna; Klämbt, Verena; Deutsch, Konstantin; Wu, Chen-Han Wilfred; Kolvenbach, Caroline M; Kause, Franziska; Ottlewski, Isabel; Schneider, Ronen; Kitzler, Thomas M; Majmundar, Amar J; Buerger, Florian; Onuchic-Whitford, Ana C; Youying, Mao; Kolb, Amy; Salmanullah, Daanya; Chen, Evan; van der Ven, Amelie T; Rao, Jia; Ityel, Hadas; Seltzsam, Steve; Rieke, Johanna M; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Dworschak, Gabriel C; Hermle, Tobias; Alders, Mariëlle; Bartolomaeus, Tobias; Bauer, Stuart B; Baum, Michelle A; Brilstra, Eva H; Challman, Thomas D; Zyskind, Jacob; Costin, Carrie E; Dipple, Katrina M; Duijkers, Floor A; Ferguson, Marcia; Fitzpatrick, David R.
Afiliación
  • Connaughton DM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Nephrology, Department of Medicine, University Hospital - London Health Sciences Centre, Schulich School of Medicine & Dentistry, Western University, 339 Windermere Road, London, ON N
  • Dai R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China.
  • Owen DJ; Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
  • Marquez J; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
  • Mann N; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Graham-Paquin AL; Rosalind & Morris Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada.
  • Nakayama M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Coyaud E; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France.
  • Laurent EMN; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France.
  • St-Germain JR; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada.
  • Blok LS; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500HE Nijmegen, the Netherlands; Human Genetics Department, Radboud University Medical Center, 6500HB Nijmegen,
  • Vino A; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.
  • Klämbt V; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Deutsch K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Wu CW; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Kause F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Ottlewski I; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Schneider R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Kitzler TM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Buerger F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Onuchic-Whitford AC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Youying M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Kolb A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Salmanullah D; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Chen E; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • van der Ven AT; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Rao J; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China.
  • Ityel H; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Seltzsam S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Rieke JM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Chen J; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Vivante A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Tel Aviv University, Faculty of Medicine, Tel Aviv-Yafo 6997801, Israel.
  • Hwang DY; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Kohl S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Dworschak GC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Hermle T; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Alders M; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 Amsterdam, Netherlands.
  • Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany.
  • Bauer SB; Department of Urology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Baum MA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Brilstra EH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.
  • Challman TD; Geisinger, Autism & Developmental Medicine Institute, 100 N Academy Avenue, Danville, PA 17822, USA.
  • Zyskind J; Department of Clinical Genomics, GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.
  • Costin CE; Department of Clinical Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH 44308, USA.
  • Dipple KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.
  • Duijkers FA; Department of Clinical Genetics, University of Amsterdam, 1012 WX Amsterdam, the Netherlands.
  • Ferguson M; Department of Clinical Genetics, Harvey Institute for Human Genetics, 6701 Charles St, Towson, MD 21204, USA.
  • Fitzpatrick DR; MRC Institute of Genetics & Molecular Medicine, Royal Hospital for Sick Children, The University of Edinburgh, 2XU, Crewe Rd S, Edinburgh EH4 2XU, UK.
Am J Hum Genet ; 107(4): 727-742, 2020 10 01.
Article en En | MEDLINE | ID: mdl-32891193
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Represoras / Factores de Transcripción / Sistema Urinario / Anomalías Urogenitales / Epigénesis Genética / Proteínas de Unión al ADN / Factores de Transcripción Forkhead / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Represoras / Factores de Transcripción / Sistema Urinario / Anomalías Urogenitales / Epigénesis Genética / Proteínas de Unión al ADN / Factores de Transcripción Forkhead / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article