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- [32] A novel likely pathogenic CLCN5 variant in Dent’s diseaseBMC Nephrology, 24S Hayward论文数: 0 引用数: 0 h-index: 0机构: Translational Health Sciences,Bristol Medical SchoolJ Norton论文数: 0 引用数: 0 h-index: 0机构: Translational Health Sciences,Bristol Medical SchoolL Bownass论文数: 0 引用数: 0 h-index: 0机构: Translational Health Sciences,Bristol Medical SchoolC Platt论文数: 0 引用数: 0 h-index: 0机构: Translational Health Sciences,Bristol Medical SchoolH Campbell论文数: 0 引用数: 0 h-index: 0机构: Translational Health Sciences,Bristol Medical SchoolE Watson论文数: 0 引用数: 0 h-index: 0机构: Translational Health Sciences,Bristol Medical SchoolN Forrester论文数: 0 引用数: 0 h-index: 0机构: Translational Health Sciences,Bristol Medical SchoolS Smithson论文数: 0 引用数: 0 h-index: 0机构: Translational Health Sciences,Bristol Medical SchoolA Menon论文数: 0 引用数: 0 h-index: 0机构: Translational Health Sciences,Bristol Medical School
- [33] From protein uptake to Dent disease: An overview of the CLCN5 geneGENE, 2020, 747Gianesello, Lisa论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med DIMED, Clin Nephrol Unit, Kidney Histomorphol & Mol Biol Lab, Co Campus Biomed Pietro dAbano,Via Orus 2B, Padua 35129, Italy Univ Padua, Dept Med DIMED, Clin Nephrol Unit, Kidney Histomorphol & Mol Biol Lab, Co Campus Biomed Pietro dAbano,Via Orus 2B, Padua 35129, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Priante, Giovanna论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med DIMED, Clin Nephrol Unit, Kidney Histomorphol & Mol Biol Lab, Co Campus Biomed Pietro dAbano,Via Orus 2B, Padua 35129, Italy Univ Padua, Dept Med DIMED, Clin Nephrol Unit, Kidney Histomorphol & Mol Biol Lab, Co Campus Biomed Pietro dAbano,Via Orus 2B, Padua 35129, ItalyCalo, Lorenzo Arcangelo论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med DIMED, Clin Nephrol Unit, Kidney Histomorphol & Mol Biol Lab, Co Campus Biomed Pietro dAbano,Via Orus 2B, Padua 35129, Italy Univ Padua, Dept Med DIMED, Clin Nephrol Unit, Kidney Histomorphol & Mol Biol Lab, Co Campus Biomed Pietro dAbano,Via Orus 2B, Padua 35129, ItalyAnglani, Franca论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med DIMED, Clin Nephrol Unit, Kidney Histomorphol & Mol Biol Lab, Co Campus Biomed Pietro dAbano,Via Orus 2B, Padua 35129, Italy Univ Padua, Dept Med DIMED, Clin Nephrol Unit, Kidney Histomorphol & Mol Biol Lab, Co Campus Biomed Pietro dAbano,Via Orus 2B, Padua 35129, Italy
- [34] Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohortsPediatric Nephrology, 2020, 35 : 633 - 640Lada Beara-Lasic论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsAndrea Cogal论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsKristin Mara论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsFelicity Enders论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsRamila A. Mehta论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsZejfa Haskic论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsSusan L. Furth论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsHoward Trachtman论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsSteven J. Scheinman论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsDawn S. Milliner论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsDavid S. Goldfarb论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsPeter C. Harris论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and PediatricsJohn C. Lieske论文数: 0 引用数: 0 h-index: 0机构: New York University Langone Health and New York University School of Medicine,Nephrology Division, Department of Medicine and Pediatrics
- [35] A novel CLCN5 mutation in a Chinese boy with Dent’s diseaseWorld Journal of Pediatrics, 2014, 10 : 275 - 277Li-Na Ji论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital Affiliated to Capital Institute of Pediatrics,Nephrology DepartmentChao-Ying Chen论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital Affiliated to Capital Institute of Pediatrics,Nephrology DepartmentJing-Jing Wang论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital Affiliated to Capital Institute of Pediatrics,Nephrology DepartmentLi Cao论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital Affiliated to Capital Institute of Pediatrics,Nephrology Department
- [36] Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processingKIDNEY INTERNATIONAL, 2009, 76 (09) : 999 - 1005Grand, Teddy论文数: 0 引用数: 0 h-index: 0机构: UPMC, CNRS, UMR 7134, F-75720 Paris 06, FranceMordasini, David论文数: 0 引用数: 0 h-index: 0机构: UPMC, CNRS, UMR 7134, F-75720 Paris 06, FranceL'Hoste, Sebastien论文数: 0 引用数: 0 h-index: 0机构: UPMC, CNRS, UMR 7134, F-75720 Paris 06, FrancePennaforte, Thomas论文数: 0 引用数: 0 h-index: 0机构: UPMC, CNRS, UMR 7134, F-75720 Paris 06, FranceGenete, Mathieu论文数: 0 引用数: 0 h-index: 0机构: UPMC, CNRS, UMR 7134, F-75720 Paris 06, FranceBiyeyeme, Marie-Jeanne论文数: 0 引用数: 0 h-index: 0机构: UPMC, CNRS, UMR 7134, F-75720 Paris 06, FranceVargas-Poussou, Rosa论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Fac Med, Paris, France UPMC, CNRS, UMR 7134, F-75720 Paris 06, FranceBlanchard, Anne论文数: 0 引用数: 0 h-index: 0机构: Hop Europeen Georges Pompidou, AP HP, Ctr Invest Clin, Paris, France UPMC, CNRS, UMR 7134, F-75720 Paris 06, FranceTeulon, Jacques论文数: 0 引用数: 0 h-index: 0机构: UPMC, CNRS, UMR 7134, F-75720 Paris 06, FranceLourdel, Stephane论文数: 0 引用数: 0 h-index: 0机构: UPMC, CNRS, UMR 7134, F-75720 Paris 06, France UPMC, CNRS, UMR 7134, F-75720 Paris 06, France
- [37] Pre-mRNA splicing defects caused by CLCN5 and OCRL mutations associated with Dent diseaseEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 272 - 272Perdomo-Ramirez, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp Nuestra Senora Candelaria, Unidad Invest, Grupo Renaltube, Santa Cruz de Tenerife, Spain Hosp Nuestra Senora Candelaria, Unidad Invest, Grupo Renaltube, Santa Cruz de Tenerife, SpainMura-Escorche, Glorian论文数: 0 引用数: 0 h-index: 0机构: Hosp Nuestra Senora Candelaria, Unidad Invest, Grupo Renaltube, Santa Cruz de Tenerife, Spain Univ La Habana, Fac Med Med Interna Dermatol & Psiquiatria, San Cristobal De Laguna, Spain Hosp Nuestra Senora Candelaria, Unidad Invest, Grupo Renaltube, Santa Cruz de Tenerife, SpainTrujillo-Frias, Carmen Jane论文数: 0 引用数: 0 h-index: 0机构: Hosp Nuestra Senora Candelaria, Unidad Invest, Santa Cruz de Tenerife, Spain Hosp Nuestra Senora Candelaria, Unidad Invest, Grupo Renaltube, Santa Cruz de Tenerife, SpainRamos-Trujillo, Elena论文数: 0 引用数: 0 h-index: 0机构: Hosp Nuestra Senora Candelaria, Unidad Invest, Grupo Renaltube, Santa Cruz de Tenerife, Spain Univ La Laguna, Fac Med, Med Fisicay Farmacol, San Cristobal De Laguna, Spain Hosp Nuestra Senora Candelaria, Unidad Invest, Grupo Renaltube, Santa Cruz de Tenerife, SpainClaverie-Martin, Felix论文数: 0 引用数: 0 h-index: 0机构: Hosp Nuestra Senora Candelaria, Unidad Invest, Grupo Renaltube, Santa Cruz de Tenerife, Spain Hosp Nuestra Senora Candelaria, Unidad Invest, Grupo Renaltube, Santa Cruz de Tenerife, Spain
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- [39] Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohortsPEDIATRIC NEPHROLOGY, 2020, 35 (04) : 633 - 640Beara-Lasic, Lada论文数: 0 引用数: 0 h-index: 0机构: New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USA NYU, Sch Med, New York, NY 10016 USA Rare Kidney Stone Consortium, Rochester, MN 55901 USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USACogal, Andrea论文数: 0 引用数: 0 h-index: 0机构: Rare Kidney Stone Consortium, Rochester, MN 55901 USA Mayo Clin, Dept Med & Pediat, Div Nephrol, Rochester, MN USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USAMara, Kristin论文数: 0 引用数: 0 h-index: 0机构: Rare Kidney Stone Consortium, Rochester, MN 55901 USA Mayo Clin, Div Biomed Stat & Informat, Rochester, MN USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USAEnders, Felicity论文数: 0 引用数: 0 h-index: 0机构: Rare Kidney Stone Consortium, Rochester, MN 55901 USA Mayo Clin, Div Biomed Stat & Informat, Rochester, MN USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USAMehta, Ramila A.论文数: 0 引用数: 0 h-index: 0机构: Rare Kidney Stone Consortium, Rochester, MN 55901 USA Mayo Clin, Div Biomed Stat & Informat, Rochester, MN USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USAHaskic, Zejfa论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USAFurth, Susan L.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn Perelman, Sch Med, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USATrachtman, Howard论文数: 0 引用数: 0 h-index: 0机构: New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USA NYU, Sch Med, New York, NY 10016 USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USAScheinman, Steven J.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Commonwealth Sch Med, Scranton, PA USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USAMilliner, Dawn S.论文数: 0 引用数: 0 h-index: 0机构: Rare Kidney Stone Consortium, Rochester, MN 55901 USA Mayo Clin, Dept Med & Pediat, Div Nephrol, Rochester, MN USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USAGoldfarb, David S.论文数: 0 引用数: 0 h-index: 0机构: New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USA NYU, Sch Med, New York, NY 10016 USA Rare Kidney Stone Consortium, Rochester, MN 55901 USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USAHarris, Peter C.论文数: 0 引用数: 0 h-index: 0机构: Rare Kidney Stone Consortium, Rochester, MN 55901 USA Mayo Clin, Dept Med & Pediat, Div Nephrol, Rochester, MN USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USALieske, John C.论文数: 0 引用数: 0 h-index: 0机构: Rare Kidney Stone Consortium, Rochester, MN 55901 USA Mayo Clin, Dept Med & Pediat, Div Nephrol, Rochester, MN USA New York Univ Langone Hlth, Nephrol Div, Dept Med & Pediat, New York, NY 10016 USA
- [40] The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 PhenotypeKIDNEY INTERNATIONAL REPORTS, 2023, 8 (06): : 1220 - 1230Arnous, Muhammad G.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USAArroyo, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USACogal, Andrea G.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USAAnglani, Franca论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med, Lab Histomorphol & Mol Biol Kidney, Padua, Italy Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USAKang, Hee Gyung论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South Korea Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USASas, David论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Pediat Nephrol & Hypertens, Rochester, MN USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USAHarris, Peter C.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA Mayo Clin, Dept Biochem & Mol Biol, Rochester, MN USA Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USALieske, John C.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Mayo Clin, Div Nephrol & Hypertens, 200 1st St SW, Rochester, MN 55902 USA Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA