Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Disease and ATP2C1[original query] |
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| Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. The Journal of dermatology 2016 Apr . Li Hongwen, Chen Lan, Mei Aihua, Chen Luzhu, Xu Yaqin, Hu Wei, Dong Yingying, Zhang Yanhong, Wang Tingmei, Liu Dongxian, Deng Yunh |
| Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population. The Journal of dermatology 2019 8 46 (11): 1024-1026. Wang Zhe, Li Lulu, Sun Lele, Mi Zihao, Fu Fanghui, Yu Gongqi, Fu Xian, Liu Hong, Zhang Fur |
| Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease. Journal of applied genetics 2020 Jan . Sawicka J, Kutkowska-Ka?mierczak A, Wo?niak K, Tysarowski A, Osipowicz K, Pozna?ski J, Rygiel A M, Braun-Walicka N, Niepokój K, Bal J, Kowalewski C, Wertheim-Tysarowska |
| Whole exome sequencing improves mutation detection in Hailey-Hailey disease. The Journal of dermatology 2021 4 48 (7): 989-992. Wang Zhe, Wang Zhenzhen, Sun Lele, Yu Xueping, Pang Zheng, Liu Hong, Zhang Fur |
| Subcellular compartmentalization of STIM1 for the distinction of Darier disease from Hailey-Hailey disease. Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2022 11 20 (12): 1613-1619. Stanisz Hedwig, Mitteldorf Christina, Janning Helena, Bennemann Anette, Schön Michael P, Frank Jor |
| Two Novel and a Recurrent ATP2C1 Mutations in Chinese Population with Hailey-Hailey Disease. Clinical, cosmetic and investigational dermatology 2023 6 16 1545-1548. Deng Zhang, Zhen Xiao, Xiaoliang Ouyang, Xiuping Wang, Yunxia Zhu, Simin Yu, Chunming |
| Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced genetics (Hoboken, N.J.) 2023 3 4 (1): 2200013. Estrella Elicia, Rockowitz Shira, Thorne Marielle, Smith Pressley, Petit Jeanette, Zehnder Veronica, Yu Richard N, Bauer Stuart, Berde Charles, Agrawal Pankaj B, Beggs Alan H, Gharavi Ali G, Kunkel Louis, Brownstein Catherine |
| Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations. The Journal of dermatology 2023 12 . Michiya Omi, Takuya Takeichi, Yasutoshi Ito, Takenori Yoshikawa, Yuki Mizutani, Miki Nagai, Mariko Seishima, Tomoo Ogi, Yoshinao Muro, Masashi Akiya |
| Hailey-Hailey Disease is Associated with Diabetes: A Population-based Cohort Study, Clinical Cohort Study, and Pedigree Analysis. Acta dermato-venereologica 2023 11 103 adv10436. Philip Curman, William Jebril, Carmella Evans-Molina, Etty Bachar-Wikstrom, Henrik Larsson, Martin Cederlöf, Jakob D Wikstr |
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