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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum, Sarah R; Li, Ying Sabrina M; Benson, Katherine A; Joli, Giancarlo; Olinger, Eric; Lavu, Sravanthi; Madsen, Charles D; Gregory, Adriana V; Neatu, Ruxandra; Kline, Timothy L; Audrézet, Marie-Pierre; Outeda, Patricia; Nau, Cherie B; Meijer, Esther; Ali, Hamad; Steinman, Theodore I; Mrug, Michal; Phelan, Paul J; Watnick, Terry J; Peters, Dorien J M; Ong, Albert C M; Conlon, Peter J; Perrone, Ronald D; Cornec-Le Gall, Emilie; Hogan, Marie C; Torres, Vicente E; Sayer, John A; Harris, Peter C.
Afiliación
  • Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
  • Li YSM; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA; Department of Nephrology, Chongqing Municipal Hospital of Traditional Chinese Medicine, Chongqing 400021, China.
  • Benson KA; School of Pharmacy and Biomolecular Science, Royal College of Surgeons in Ireland, Dublin 2, Ireland.
  • Joli G; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA; University Vita Salute San Raffaele, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
  • Olinger E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK.
  • Lavu S; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
  • Madsen CD; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
  • Gregory AV; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
  • Neatu R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK.
  • Kline TL; Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA.
  • Audrézet MP; Univ Brest, Inserm, UMR 1078, GGB, CHU Brest, F-29200 Brest, France.
  • Outeda P; Division of Nephrology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
  • Nau CB; Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA.
  • Meijer E; Department of Nephrology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, the Netherlands.
  • Ali H; Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Health Sciences Center, Kuwait University, Sulaibikhat 90805, Kuwait; Department of Genetics and Bioinformatics, Dasman Diabetes Institute (DDI), Dasman 15462, Kuwait.
  • Steinman TI; Renal Division, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.
  • Mrug M; Division of Nephrology, University of Alabama, Birmingham, AL 35294, USA; The Department of Veterans Affairs Medical Center, Birmingham, AL 35294, USA.
  • Phelan PJ; Renal Department, NHS Lothian - Royal Infirmary Edinburgh, Edinburgh, EH1 3EG, UK.
  • Watnick TJ; Division of Nephrology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
  • Peters DJM; Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands.
  • Ong ACM; Kidney Genetics Group, Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, S10 2JF, UK; The Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, S10 2JF, UK.
  • Conlon PJ; Department of Nephrology, Beaumont Hospital and Department of Medicine Royal College of Surgeons in Ireland, Dublin 9, Ireland.
  • Perrone RD; Division of Nephrology, Tufts Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.
  • Cornec-Le Gall E; Univ Brest, Inserm, UMR 1078, GGB, CHU Brest, F-29200 Brest, France.
  • Hogan MC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
  • Torres VE; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
  • Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK; Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, and NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, NE4 5PL, U
  • Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: harris.peter@mayo.edu.
Am J Hum Genet ; 109(1): 136-156, 2022 01 06.
Article en En | MEDLINE | ID: mdl-34890546
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Riñón Poliquístico Autosómico Dominante / Predisposición Genética a la Enfermedad / Alelos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Riñón Poliquístico Autosómico Dominante / Predisposición Genética a la Enfermedad / Alelos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos