Human Genome Epidemiology Literature Finder
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Records 1 - 26 (of 26 Records) |
| Query Trace: Syndrome and SLC12A3[original query] |
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| Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population. Journal of human genetics 2004 49 (9): 507-15. Kokubo Yoshihiro, Kamide Kei, Inamoto Nozomu, Tanaka Chihiro, Banno Mariko, Takiuchi Shin, Kawano Yuhei, Tomoike Hitonobu, Miyata Toshiyu |
| Case-control study of the role of the Gitelman's syndrome gene in essential hypertension. Endocrine journal 2008 May 55 (2): 305-10. Aoi Noriko, Nakayama Tomohiro, Sato Naoyuki, Kosuge Kotoko, Haketa Akira, Sato Mikano, Soma Masayos |
| Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009 Apr 24 (4): 1170-5. Hsu Yu-Juei, Yang Sung-Sen, Chu Nain-Feng, Sytwu Huey-Kang, Cheng Chih-Jen, Lin Shih-H |
| [Mutational analysis of a thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in a Japanese population--the Iwaki Health Promotion Project]. Rinsho byori. The Japanese journal of clinical pathology 2009 Apr 57 (4): 391-6. Yasujima Minoru, Tsutaya Sho |
| Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome. European journal of endocrinology / European Federation of Endocrine Societies 2011 Oct 165 (4): 665-73. Balavoine A S, Bataille P, Vanhille P, Azar R, Noël C, Asseman P, Soudan B, Wémeau J L, Vantyghem M |
| Mutation profile and treatment of Gitelman syndrome in Chinese patients. Clinical and experimental nephrology 2016 May . Wang Fen, Shi Chuan, Cui Yunying, Li Chunyan, Tong An |
| Clinical and genetic analyses of Chinese patients with Gitelman syndrome. Genetics and molecular research : GMR 2016 15 (2): . Miao M, Zhao C Q, Wang X L, Shan Z |
| Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome. Journal of Korean medical science 2016 Jan 31 (1): 47-54. Lee Jae Wook, Lee Jeonghwan, Heo Nam Ju, Cheong Hae Il, Han Jin S |
| Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome. Medical science monitor : international medical journal of experimental and clinical research 2019 8 25 5942-5952. Zeng Yanmei, Li Ping, Fang Shu, Wu Chunyan, Zhang Yudan, Lin Xiaochun, Guan Meipi |
| Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study. Journal of the American Society of Nephrology : JASN 2019 7 30 (8): 1534-1545. Blanchard Anne, Vallet Marion, Dubourg Laurence, Hureaux Marguerite, Allard Julien, Haymann Jean-Philippe, de la Faille Renaud, Arnoux Armelle, Dinut Aurelie, Bergerot Damien, Becker Pierre-Hadrien, Courand Pierre-Yves, Baron Stéphanie, Houillier Pascal, Tack Ivan, Devuyst Olivier, Jeunemaitre Xavier, Azizi Michel, Vargas-Poussou Ro |
| Clinical and Genetic Characteristics in Patients With Gitelman Syndrome. Kidney international reports 2019 1 4 (1): 119-125. Fujimura Junya, Nozu Kandai, Yamamura Tomohiko, Minamikawa Shogo, Nakanishi Keita, Horinouchi Tomoko, Nagano China, Sakakibara Nana, Nakanishi Koichi, Shima Yuko, Miyako Kenichi, Nozu Yoshimi, Morisada Naoya, Nagase Hiroaki, Ninchoji Takeshi, Kaito Hiroshi, Iijima Kazumo |
| Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report. Medicine 2020 7 99 (29): e21123. He Guangyu, Gang Xiaokun, Sun Zhonghua, Wang Ping, Wang Guixia, Guo Weiyi |
| Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children. Clinical genetics 2020 12 99 (4): 558-564. Shen Qian, Chen Jiemei, Yu Minghui, Lin Zhi, Nan Xiaojuan, Dong Beijun, Fang Xiaoyan, Chen Jing, Ding Guixia, Zhang Aihua, Gao Chunlin, Miao Li, Xu Yuanyuan, Jiang Xiaoyun, Bai Haitao, Zhuang Jieqiu, Gao Xiaojie, Xu Hong, |
| [Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 12 37 (12): 1368-1370. Ma Qian, Wu Jinlin, Che Lingyi, Kong Xiangdo |
| Calcium pyrophosphate crystal deposition in a cohort of 57 patients with Gitelman syndrome. Rheumatology (Oxford, England) 2021 9 61 (6): 2494-2503. Chotard Emilie, Blanchard Anne, Ostertag Agnès, Latourte Augustin, Gailly Gilles, Frochot Vincent, Lioté Frédéric, Bousson Valérie, Richette Pascal, Bardin Thomas, Vargas-Poussou Rosa, Ea Hang Kor |
| Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome. NPJ genomic medicine 2021 8 6 (1): 68. Yan Ming-Tso, Yang Sung-Sen, Tseng Min-Hua, Cheng Chih-Jen, Tsai Jeng-Daw, Sung Chih-Chien, Hsu Yu-Juei, Lin Shih-H |
| Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases. Scientific reports 2021 8 11 (1): 16099. Kondo Atsushi, Nagano China, Ishiko Shinya, Omori Takashi, Aoto Yuya, Rossanti Rini, Sakakibara Nana, Horinouchi Tomoko, Yamamura Tomohiko, Nagai Sadayuki, Okada Eri, Shima Yuko, Nakanishi Koichi, Ninchoji Takeshi, Kaito Hiroshi, Takeda Hiroki, Nagase Hiroaki, Morisada Naoya, Iijima Kazumoto, Nozu Kand |
| Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome. Clinical nephrology 2021 5 96 (3): 165-174. Zheng Xinyi, Shang Shunlai, Cai Guangyan, Chen Xiangmei, Li Qingga |
| [Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Nov 38 (11): 1087-1090. Zhang Mingying, Huang Le, Jiang Xiaoping, Lyu Ling, Zhao Yan, Zhong Ying, Gao Lo |
| Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. Journal of the American Society of Nephrology : JASN 2021 10 33 (2): 305-325. Viering Daan, Schlingmann Karl P, Hureaux Marguerite, Nijenhuis Tom, Mallett Andrew, Chan Melanie M Y, van Beek André, van Eerde Albertien M, Coulibaly Jean-Marie, Vallet Marion, Decramer Stéphane, Pelletier Solenne, Klaus Günter, Kömhoff Martin, Beetz Rolf, Patel Chirag, Shenoy Mohan, Steenbergen Eric J, Anderson Glenn, Bongers Ernie M H F, Bergmann Carsten, Panneman Daan, Rodenburg Richard J, Kleta Robert, Houillier Pascal, Konrad Martin, Vargas-Poussou Rosa, Knoers Nine V A M, Bockenhauer Detlef, de Baaij Jeroen H F, |
| Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome. Scandinavian journal of clinical and laboratory investigation 2021 10 81 (8): 629-633. Wang Feng, Guo Manli, Li Jing, Ma Shaoga |
| Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022 5 47 (3): 401-406. Xie Rongrong, Jin Ping, Yang Youbo, Zhang Qin, Xiong Ji |
| Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes. Genes 2022 3 13 (3): . Peces Ramón, Peces Carlos, Mena Rocío, Cuesta Emilio, García-Santiago Fe Amalia, Ossorio Marta, Afonso Sara, Lapunzina Pablo, Nevado Juli |
| Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome. Journal of the American Society of Nephrology : JASN 2022 10 34 (2): 333-345. Viering Daan H H M, Hureaux Marguerite, Neveling Kornelia, Latta Femke, Kwint Michael, Blanchard Anne, Konrad Martin, Bindels René J M, Schlingmann Karl-Peter, Vargas-Poussou Rosa, de Baaij Jeroen H |
| Spectrum of variants in a large Chinese Gitelman syndrome cohort. Clinical genetics 2023 9 . Lijun Mou, Mengyue Tang, Lina Zhu, Wanbing Lin, Ying |
| Clinical Features and Unusual Heterozygous Mutations in Patients with Renal Hypokalemia. Clinical laboratory 2024 10 70 (10): . Yongjing Zhang, Zhihao Wu, Lingguang Luo, Shanshan Deng, Shaogang |
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