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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Kim, Jung-Hyun; Park, Eun Young; Chitayat, David; Stachura, David L; Schaper, Jörg; Lindstrom, Kristin; Jewett, Tamison; Wieczorek, Dagmar; Draaisma, Jos M; Sinnema, Margje; Hoeberigs, Christianne; Hempel, Maja; Bachman, Kristine K; Seeley, Andrea H; Stone, Joshua K; Kong, Hyun Kyung; Vukadin, Lana; Richard, Alexander; Shinde, Deepali N; McWalter, Kirsty; Si, Yue Cindy; Douglas, Ganka; Lim, Ssang-Taek; Vissers, Lisenka E L M; Lemaire, Mathieu; Ahn, Eun-Young Erin.
Afiliação
  • Kim JH; Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama, USA.
  • Park EY; Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama, USA.
  • Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto,
  • Stachura DL; Department of Biological Sciences, California State University Chico, Chico, California, USA.
  • Schaper J; Institute of Diagnostic and Interventional Radiology, University of Düsseldorf, Düsseldorf, Germany.
  • Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Jewett T; Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
  • Wieczorek D; Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, Essen, Germany.
  • Draaisma JM; Department of Pediatrics, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands.
  • Sinnema M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands.
  • Hoeberigs C; Department of Radiology and Nuclear Medicine, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Bachman KK; Geisinger Medical Center, Danville, Pennsylvania, USA.
  • Seeley AH; Geisinger Medical Center, Danville, Pennsylvania, USA.
  • Stone JK; Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama, USA.
  • Kong HK; Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama, USA.
  • Vukadin L; Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama, USA.
  • Richard A; Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama, USA.
  • Shinde DN; Ambry Genetics, Aliso Viejo, California, USA.
  • McWalter K; GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Si YC; GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Douglas G; GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Lim ST; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, Alabama, USA.
  • Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lemaire M; Division of Nephrology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Cell Biology Program, SickKids Research Institute, University of Toronto, Toronto, Ontario, Canada. Electronic address: Mathieu.lemaire@sickkids.ca.
  • Ahn EE; Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, Alabama, USA. Electronic address: eahn@health.southalabama.edu.
Kidney Int ; 95(6): 1494-1504, 2019 06.
Article em En | MEDLINE | ID: mdl-31005274
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 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: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article