Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Syndrome and CLCNKB[original query] |
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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 |
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. International journal of pediatric otorhinolaryngology 2016 12 92 17-20. Wang Hong-Han, Feng Yong, Li Hai-Bo, Wu Hong, Mei Ling-Yun, Wang Xing-Wei, Jiang Lu, He Chu-Fe |
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 |
Mutation spectrum of Chinese patients with Bartter syndrome. Oncotarget 2017 12 8 (60): 101614-101622. Han Yue, Lin Yi, Sun Qing, Wang Shujuan, Gao Yanxia, Shao Lepi |
Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3. Endocrine 2019 Dec . Han Yue, Cheng Hai, Shao Shihong, Lang Yanhua, Zhao Xiangzhong, Lin Yi, Wang Sai, Shi Xiaomeng, Liu Zhiying, Shao Lepi |
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, |
Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation. Clinical case reports 2022 12 10 (12): e6698. Nojehdeh Somayeh Takrim, Mojbafan Marzieh, Hooman Nakysa, Hoseini Rozita, Otukesh Has |
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 |
Phenotypic and genotypic characteristics of children with Bartter syndrome. The Turkish journal of pediatrics 2022 10 64 (5): 825-838. Güven Serçin, Gökçe ?brahim, Alavanda Ceren, Çiçek Neslihan, Demirci Ece Bodur, Sak Mehtap, Pul Serim, Türkkan Özde Nisa, Y?ld?z Nurdan, Ata P?nar, Alpay Hari |
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. Genome medicine 2023 8 15 (1): 62. Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H Driller, Bjørn P Pedersen, Karl P Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüll |
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 22, 2024
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