Your browser doesn't support javascript.
loading
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Mann, Nina; Kause, Franziska; Henze, Erik K; Gharpure, Anant; Shril, Shirlee; Connaughton, Dervla M; Nakayama, Makiko; Klämbt, Verena; Majmundar, Amar J; Wu, Chen-Han W; Kolvenbach, Caroline M; Dai, Rufeng; Chen, Jing; van der Ven, Amelie T; Ityel, Hadas; Tooley, Madeleine J; Kari, Jameela A; Bownass, Lucy; El Desoky, Sherif; De Franco, Elisa; Shalaby, Mohamed; Tasic, Velibor; Bauer, Stuart B; Lee, Richard S; Beckel, Jonathan M; Yu, Weiqun; Mane, Shrikant M; Lifton, Richard P; Reutter, Heiko; Ellard, Sian; Hibbs, Ryan E; Kawate, Toshimitsu; Hildebrandt, Friedhelm.
Affiliation
  • Mann N; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Kause F; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Henze EK; Department of Molecular Medicine, Cornell University, Ithaca, NY 14853, USA.
  • Gharpure A; Departments of Neuroscience and Biophysics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Shril S; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Connaughton DM; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Nakayama M; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Klämbt V; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Wu CW; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Dai R; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Chen J; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • van der Ven AT; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Ityel H; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Tooley MJ; Department of Clinical Genetics, St. Michael's Hospital, University Hospital's Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.
  • Kari JA; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah 21859, Kingdom of Saudi Arabia.
  • Bownass L; Department of Clinical Genetics, St. Michael's Hospital, University Hospital's Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.
  • El Desoky S; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah 21859, Kingdom of Saudi Arabia.
  • De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.
  • Shalaby M; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah 21859, Kingdom of Saudi Arabia.
  • Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, Macedonia.
  • Bauer SB; Department of Urology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Lee RS; Department of Urology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Beckel JM; Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, PA 15261, USA.
  • Yu W; Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.
  • Mane SM; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
  • Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA.
  • Reutter H; Institute of Human Genetics, University of Bonn, Bonn 53127, Germany Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn 53127, Germany.
  • Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.
  • Hibbs RE; Departments of Neuroscience and Biophysics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Kawate T; Department of Molecular Medicine, Cornell University, Ithaca, NY 14853, USA.
  • Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Am J Hum Genet ; 105(6): 1286-1293, 2019 12 05.
Article in En | MEDLINE | ID: mdl-31708116
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autonomic Nervous System Diseases / Urinary Tract / Urogenital Abnormalities / Receptors, Nicotinic / Kidney / Mutation Type of study: Observational_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2019 Type: Article Affiliation country: United States
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autonomic Nervous System Diseases / Urinary Tract / Urogenital Abnormalities / Receptors, Nicotinic / Kidney / Mutation Type of study: Observational_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2019 Type: Article Affiliation country: United States