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- [1] Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families[J]. Human Genome Variation, 5 (1)Hines S.L.论文数: 0 引用数: 0 h-index: 0机构: Department of Internal Medicine, Mayo Clinic, Jacksonville, 32224, FL Department of Internal Medicine, Mayo Clinic, Jacksonville, 32224, FLAgarwal A.论文数: 0 引用数: 0 h-index: 0机构: Department of Clinical Genomics, Mayo Clinic, Jacksonville, 32224, FL Department of Internal Medicine, Mayo Clinic, Jacksonville, 32224, FLGhandour M.论文数: 0 引用数: 0 h-index: 0机构: Department of Clinical Genomics, Mayo Clinic, Jacksonville, 32224, FL Department of Internal Medicine, Mayo Clinic, Jacksonville, 32224, FLNabeel A.论文数: 0 引用数: 0 h-index: 0机构: Department of Internal Medicine, Mayo Clinic, Jacksonville, 32224, FL Department of Internal Medicine, Mayo Clinic, Jacksonville, 32224, FLMohammad A.N.论文数: 0 引用数: 0 h-index: 0机构: Department of Clinical Genomics, Mayo Clinic, Jacksonville, 32224, FL Department of Nephrology, Mayo Clinic, Jacksonville, 32224, FL Department of Internal Medicine, Mayo Clinic, Jacksonville, 32224, FLAtwal P.S.论文数: 0 引用数: 0 h-index: 0机构: Department of Clinical Genomics, Mayo Clinic, Jacksonville, 32224, FL Department of Internal Medicine, Mayo Clinic, Jacksonville, 32224, FL
- [2] Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families (vol 5, 15, 2018)[J]. HUMAN GENOME VARIATION, 2018, 5Hines, Stephanie L.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Internal Med, Jacksonville, FL 32224 USA Mayo Clin, Dept Internal Med, Jacksonville, FL 32224 USAAgarwal, Anjali论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Jacksonville, FL 32224 USA Mayo Clin, Dept Internal Med, Jacksonville, FL 32224 USAGhandour, Mohamedanwar论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Jacksonville, FL 32224 USA Mayo Clin, Dept Internal Med, Jacksonville, FL 32224 USAAslam, Nabeel论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Internal Med, Jacksonville, FL 32224 USA Mayo Clin, Dept Internal Med, Jacksonville, FL 32224 USAMohammad, Ahmed N.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Jacksonville, FL 32224 USA Mayo Clin, Dept Internal Med, Jacksonville, FL 32224 USAAtwal, Paldeep S.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Jacksonville, FL 32224 USA Mayo Clin, Dept Internal Med, Jacksonville, FL 32224 USA
- [3] Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome[J]. FRONTIERS IN MEDICINE, 2022, 9Cerkauskaite, Agne论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, LithuaniaSavige, Judy论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Royal Melbourne Hosp, Dept Med Melbourne Hlth & Northern Hlth, Parkville, Vic, Australia Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, LithuaniaJanonyte, Karolina论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, LithuaniaJeremiciute, Ieva论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, Lithuania论文数: 引用数: h-index:机构:Kazenaite, Edita论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, Lithuania论文数: 引用数: h-index:机构:Strupaite-Sileikiene, Rasa论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Clin Med, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, LithuaniaVainutiene, Vija论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ Hosp Santaros Klinikos, Ctr Ear Nose & Throat Dis, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, LithuaniaBurnyte, Birute论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, LithuaniaJankauskiene, Augustina论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Clin Med, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, LithuaniaRolfs, Arndt论文数: 0 引用数: 0 h-index: 0机构: Univ Rostock, Albrecht Kossel Inst Neuroregenerat, Rostock, Germany Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, LithuaniaBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, LithuaniaSchroeder, Sabine论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, Lithuania论文数: 引用数: h-index:机构:
- [4] Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome[J]. BMC MEDICAL GENOMICS, 2024, 17 (01)Wang, Duocai论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R ChinaPan, Meize论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Nephrol, Shenzhen Hosp, Shenzhen 518036, Guangdong, Peoples R China Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R ChinaLi, Hang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Urol, Shenzhen Hosp, Shenzhen, Guangdong, Peoples R China Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R ChinaLi, Minchun论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R ChinaLi, Ping论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pathol, Shenzhen Hosp, Shenzhen, Guangdong, Peoples R China Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R ChinaXiong, Fu论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Guangdong Prov Key Lab Single Cell Technol & Appli, Guangzhou, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Fetal Med & Prenatal Diag, Guangzhou, Peoples R China Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R ChinaXiao, Hongbo论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Nephrol, Shenzhen Hosp, Shenzhen 518036, Guangdong, Peoples R China Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China
- [5] ADPKD and collagen genes (COL4A3, COL4A4, COL4A5)[J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I1962 - I1962Caprara, Carlotta论文数: 0 引用数: 0 h-index: 0机构: San Bortolo Hosp, Nephrol Dep, Vicenza, Italy San Bortolo Hosp, Nephrol Dep, Vicenza, ItalyCorradi, Valentina论文数: 0 引用数: 0 h-index: 0机构: San Bortolo Hosp, Nephrol Dep, Vicenza, Italy San Bortolo Hosp, Nephrol Dep, Vicenza, ItalyRigato, Matteo论文数: 0 引用数: 0 h-index: 0机构: San Bortolo Hosp, Nephrol Dep, Vicenza, Italy San Bortolo Hosp, Nephrol Dep, Vicenza, ItalyMancini, Barbara论文数: 0 引用数: 0 h-index: 0机构: Genet & Genom Diagnost San Bortolo Hosp, UOSD, Vicenza, Italy San Bortolo Hosp, Nephrol Dep, Vicenza, ItalyMarzano, Nenzi论文数: 0 引用数: 0 h-index: 0机构: IRRIV Fdn, Vicenza, Italy San Bortolo Hosp, Nephrol Dep, Vicenza, ItalyPerbellini, Omar论文数: 0 引用数: 0 h-index: 0机构: Genet & Genom Diagnost San Bortolo Hosp, UOSD, Vicenza, Italy San Bortolo Hosp, Nephrol Dep, Vicenza, ItalyGastaldon, Fiorella论文数: 0 引用数: 0 h-index: 0机构: San Bortolo Hosp, Nephrol Dep, Vicenza, Italy San Bortolo Hosp, Nephrol Dep, Vicenza, ItalyRonco, Claudio论文数: 0 引用数: 0 h-index: 0机构: IRRIV Fdn, Vicenza, Italy San Bortolo Hosp, Nephrol Dep, Vicenza, ItalyZanella, Monica论文数: 0 引用数: 0 h-index: 0机构: San Bortolo Hosp, Nephrol Dep, Vicenza, Italy San Bortolo Hosp, Nephrol Dep, Vicenza, Italy
- [6] Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report[J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2022, 33 (11): : 443 - 443Rao, Dipti论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsMaas, Rutger J.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsCornelissen, Elisabeth A.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsWetzels, Jack F.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, Netherlandsvan Geel, Michel论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Maastricht, Netherlands Radboudumc, Nijmegen, Netherlands
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- [8] Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome[J]. PLOS ONE, 2017, 12 (05):Liu, Jian-Hong论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaWei, Xiu-Xiu论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaLi, Ang论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaCui, Ying-Xia论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaXia, Xin-Yi论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaQin, Wei-Song论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Jinling Hosp, Natl Clin Res Ctr Kidney Dis, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaZhang, Ming-Chao论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Jinling Hosp, Natl Clin Res Ctr Kidney Dis, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaGao, Er-Zhi论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Jinling Hosp, Natl Clin Res Ctr Kidney Dis, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaSun, Jun论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaGao, Chun-Lin论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Dept Pediat Nephrol, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaLiu, Feng-Xia论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaWu, Qiu-Yue论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaLi, Wei-Wei论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaAsan论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaLiu, Zhi-Hong论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Jinling Hosp, Natl Clin Res Ctr Kidney Dis, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R ChinaLi, Xiao-Jun论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Dept Chem, State Key Lab Analyt Chem Life Sci, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Inst Clin Lab Sci, Jinling Hosp, Sch Med, Nanjing, Jiangsu, Peoples R China
- [9] Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report[J]. CASE REPORTS IN NEPHROLOGY AND DIALYSIS, 2024, 14 (01): : 1 - 9Uedono, Hideki论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanMori, Katsuhito论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Nephrol, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanNakatani, Shinya论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanWatanabe, Kohei论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanNakaya, Rino论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanMorioka, Fumiyuki论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanSone, Kazuma论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanOno, Chie论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Med Genet, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanHotta, Junko论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Med Genet, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanTsuda, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanMorisada, Naoya论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, JapanSeto, Toshiyuki论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Med Genet, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan论文数: 引用数: h-index:机构:Emoto, Masanori论文数: 0 引用数: 0 h-index: 0机构: Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Nephrol, Osaka, Japan Osaka Metropolitan Univ, Grad Sch Med, Dept Metab Endocrinol & Mol Med, Osaka, Japan
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