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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 1, 2023. (Total: 223516Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Hyperplasia and CYP17A1[original query]
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population.
Clinica chimica acta; international journal of clinical chemistry 2011 Jun 412 (13-14): 1240-3.
Bao Xunna, Ding Hu, Xu Yujun, Cui Guanglin, He Yebing, Yu Xuefeng, Wang Dao W
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Endocrine 2016 May .
Han Bing, Xue Liqiong, Fan Mengxia, Zhao Shuangxia, Liu Wei, Zhu Hui, Cheng Tong, Lu Yingli, Cheng Kaixiang, Song Huaidong, Liu Yang, Qiao J
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia.
Endocrine connections 2018 10 7 (11): 1136-41.
Liu Qiuli, Wang Lin-Ang, Su Jian, Tong Dali, Lan Weihua, Wang Luofu, Liu Gaolei, Zhang Jun, Zhang Victor Wei, Zhang Dianzheng, Chen Rongrong, Zhu Qingyi, Jiang J
Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients.
Hypertension research : official journal of the Japanese Society of Hypertension 2019 8 42 (10): 1536-1543.
Qin Fang, Liu Kai, Zhang Ce, Sun Xiaolu, Zhang Yang, Wu Yajie, Ma Wenjun, Wang Wei, Wu Xueyi, Qin Ying, Zou Yubao, Zhou Xianliang, Jiang Xiongjing, Wu Haiying, Hui Rutai, Wang Jizheng, Zhang Huimin, Song L
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
European journal of medical genetics 2021 10 64 (12): 104369.
Ravichandran Lavanya, Korula Sophy, Asha H S, Varghese Deny, Parthiban R , Johnson Jabasteen, Ishwarya Janani, Shetty Sahana, Cherian Kripa Elizabeth, Jebasingh Felix, Kapoor Nitin, Pachat Divya, Mathai Sarah, Simon Anna, Rajaratnam Simon, Paul Thomas V, Thomas Nihal, Chapla Aar
Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.
Journal of the Endocrine Society 2022 9 6 (10): bvac127.
Flippo Chelsi, Kolli Vipula, Andrew Melissa, Berger Seth, Bhatti Tricia, Boyce Alison M, Casella Daniel, Collins Michael T, Délot Emmanuèle, Devaney Joseph, Hewitt Stephen M, Kolon Thomas, Mallappa Ashwini, White Perrin C, Merke Deborah P, Dauber Andr
Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia.
MethodsX 2022 6 9 101748.
Ravichandran Lavanya, Varghese Deny, R Parthiban, S Asha H, Korula Sophy, Thomas Nihal, Chapla Aar
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Clinical chemistry 2022 6 68 (7): 927-939.
Liu Yingdi, Chen Miaomiao, Liu Jing, Mao Aiping, Teng Yanling, Yan Huiming, Zhu Huimin, Li Zhuo, Liang Desheng, Wu Lingqi
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