Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: CLCN5[original query] |
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Screening for CLCN5 mutation in renal calcium stone formers patients. Anais da Academia Brasileira de Ciências 2005 Mar 77 (1): 95-101. Rebelo Maria Alice P, Tostes Vera, Araújo Nordeval C, Martini Sabrina V, Botelho Bruno F, Guggino William B, Morales Marcelo |
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. Pediatric nephrology (Berlin, Germany) 2009 Oct 24 (10): 1967-73. Tosetto Enrica, Addis Maria, Caridi Gianluca, Meloni Cristiana, Emma Francesco, Vergine Gianluca, Stringini Gilda, Papalia Teresa, Barbano Giancarlo, Ghiggeri Gian Marco, Ruggeri Laura, Miglietti Nunzia, D Angelo Angela, Melis Maria Antonietta, Anglani Fran |
A pharmacogenetic candidate gene study of tenofovir-associated Fanconi syndrome. Pharmacogenetics and genomics 2015 Feb 25 (2): 82-92. Dahlin Amber, Wittwer Matthias, de la Cruz Melanie, Woo Jonathan M, Bam Rujuta, Scharen-Guivel Valeska, Flaherty John, Ray Adrian S, Cihlar Tomas, Gupta Samir K, Giacomini Kathleen |
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA oncology 2016 May 2 (5): 616-624. Parsons D Williams, Roy Angshumoy, Yang Yaping, Wang Tao, Scollon Sarah, Bergstrom Katie, Kerstein Robin A, Gutierrez Stephanie, Petersen Andrea K, Bavle Abhishek, Lin Frank Y, López-Terrada Dolores H, Monzon Federico A, Hicks M John, Eldin Karen W, Quintanilla Norma M, Adesina Adekunle M, Mohila Carrie A, Whitehead William, Jea Andrew, Vasudevan Sanjeev A, Nuchtern Jed G, Ramamurthy Uma, McGuire Amy L, Hilsenbeck Susan G, Reid Jeffrey G, Muzny Donna M, Wheeler David A, Berg Stacey L, Chintagumpala Murali M, Eng Christine M, Gibbs Richard A, Plon Sharon |
[Mutation analysis of four pedigrees affected with hypophosphatemic rickets through targeted next-generation sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 10 35 (5): 638-643. Bai Ying, Liu Ning, Shao Mingwei, Qin Guijun, Gao Xu, Kong Xiangdo |
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome. Molecular genetics & genomic medicine 2019 8 7 (9): e883. Yamamura Tomohiko, Nozu Kandai, Minamikawa Shogo, Horinouchi Tomoko, Sakakibara Nana, Nagano China, Aoto Yuya, Ishiko Shinya, Nakanishi Koichi, Shima Yuko, Nagase Hiroaki, Rossanti Rini, Ye Ming J, Nozu Yoshimi, Ishimori Shingo, Morisada Naoya, Kaito Hiroshi, Iijima Kazumo |
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts. Pediatric nephrology (Berlin, Germany) 2019 3 35 (4): 633-640. Beara-Lasic Lada, Cogal Andrea, Mara Kristin, Enders Felicity, Mehta Ramila A, Haskic Zejfa, Furth Susan L, Trachtman Howard, Scheinman Steven J, Milliner Dawn S, Goldfarb David S, Harris Peter C, Lieske John C, |
Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease. Molecular genetics & genomic medicine 2020 6 8 (8): e1306. Deng Haiyue, Zhang Yanqin, Xiao Huijie, Yao Yong, Zhang Hongwen, Liu Xiaoyu, Su Baige, Guan Na, Zhong Xuhui, Wang Suxia, Ding Jie, Wang Fa |
Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies. International journal of molecular sciences 2020 1 21 (2): . Gianesello Lisa, Ceol Monica, Bertoldi Loris, Terrin Liliana, Priante Giovanna, Murer Luisa, Peruzzi Licia, Giordano Mario, Paglialonga Fabio, Cantaluppi Vincenzo, Musetti Claudio, Valle Giorgio, Del Prete Dorella, Anglani Franca, Network Dent Disease Itali |
Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes. Frontiers in genetics 2022 8 13 886038. Alaamery Manal, Alghamdi Jahad, Massadeh Salam, Alsawaji Mona, Aljawini Nora, Albesher Nour, Alghamdi Bader, Almutairi Mansour, Hejaili Fayez, Alfadhel Majid, Baz Batoul, Almuzzaini Bader, Almutairi Adel F, Abdullah Mubarak, Quintana Francisco J, Sayyari Abdull |
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Molecular genetics and genomics : MGG 2022 May . Huang Lin, Qi Chang, Zhu Gaohong, Ding Juanjuan, Yuan Li, Sun Jie, He Xuelian, Wang Xiaow |
Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
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- Page last updated:Apr 22, 2024
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