Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Gitelman Syndrome[original query] |
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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 |
Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia. Clinical and experimental hypertension (New York, N.Y. : 1993) 2018 Jun 1-8. Bao Minghui, Cai Jun, Yang Xinchun, Ma Wenj |
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome. Journal of endocrinological investigation 2018 11 42 (6): 653-665. Zhong F, Ying H, Jia W, Zhou X, Zhang H, Guan Q, Xu J, Fang L, Zhao J, Xu |
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood. Kidney international reports 2019 9 4 (9): 1304-1311. Adalat Shazia, Hayes Wesley N, Bryant William A, Booth John, Woolf Adrian S, Kleta Robert, Subtil Sandra, Clissold Rhian, Colclough Kevin, Ellard Sian, Bockenhauer Detl |
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, |
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood. Human mutation 2020 12 42 (3): 300-309. Mori Takayasu, Chiga Motoko, Fujimaru Takuya, Kawamoto Ryosuke, Mandai Shintaro, Nanamatsu Azuma, Nomura Naohiro, Ando Fumiaki, Susa Koichiro, Sohara Eisei, Rai Tatemitsu, Uchida Shinic |
[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 |
Heterozygosity for a Pathogenic Variant in
Journal of the American Society of Nephrology : JASN 2021 2 32 (3): 756-765. Wan Xuesi, Perry James, Zhang Haichen, Jin Feng, Ryan Kathleen A, Van Hout Cristopher, Reid Jeffrey, Overton John, Baras Aris, Han Zhe, Streeten Elizabeth, Li Yanbing, Mitchell Braxton D, Shuldiner Alan R, Fu Mao, |
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5. Clinical genetics 2022 5 102 (3): 228-233. Zhang Xinyue, Pan Xiaohui, Wan Qin, Ma Jinfang, Zhang Fang, Zhang Yuwei, Lv Qingguo, Shen Sumin, Tong Nanw |
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 |
Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children. Turkish archives of pediatrics 2022 10 57 (6): 644-650. Huseynli Bahruz, Atm?? Bahriye, Cevizli Derya, Bi?gin At?l, Karabay Bayaz?t Ays |
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 |
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts. Nephron 2023 3 1-18. Vaisbich Maria Helena, Messa Ana Carola Hebbia Lobo, Rangel-Santos Andréia Cristiane, Ferreira Juliana Caires de Oliveira Achili, Nunes Fernanda Andrade Macaferri da Fonseca, Watanabe Andre |
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- Page last updated:Apr 29, 2024
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