Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Hyperplasia and CYP11B1[original query] |
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| 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. The Journal of clinical endocrinology and metabolism 2005 Oct 90 (10): 5769-73. Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E |
| Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. The Journal of clinical endocrinology and metabolism 2005 Sep 90 (9): 5463-5. Paperna Tamar, Gershoni-Baruch Ruth, Badarneh Kader, Kasinetz Leah, Hochberg Ze' |
| Immunohistochemical, genetic and clinical characterization of sporadic aldosterone-producing adenomas. Molecular and cellular endocrinology 2015 Aug 411 146-54. Monticone Silvia, Castellano Isabella, Versace Karine, Lucatello Barbara, Veglio Franco, Gomez-Sanchez Celso E, Williams Tracy A, Mulatero Pao |
| A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11ß-hydroxylase deficiency. Gene 2015 Jul 565 (2): 291-4. Nguyen Thi Phuong Mai, Nguyen Thu Hien, Ngo Diem Ngoc, Vu Chi Dung, Nguyen Thi Kim Lien, Nong Van Hai, Nguyen Huy Hoa |
| Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-ß hydroxylase deficiency. The Journal of steroid biochemistry and molecular biology 2016 Mar . Kandemir Nurgun, Yilmaz Didem Yucel, Gonc E Nazli, Ozon Alev, Alikasifoglu Ayfer, Dursun Ali, Ozgul R Koks |
| Prevalence, clinical characteristics and long-term outcomes of classical 11 ?-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene. The Journal of steroid biochemistry and molecular biology 2018 4 181 88-97. Ba? Firdevs, Toksoy Güven, Ergun-Longmire Berrin, Uyguner Zehra Oya, Abal? Zehra Yava?, Poyrazo?lu ?ükran, Karaman Volkan, Avc? ?ahin, Altuno?lu Umut, Bundak Ruveyde, Karaman Birsen, Ba?aran Seher, Darendeliler Fey |
| 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 |
| Comprehensive genotyping of Turkish women with hirsutism. Journal of endocrinological investigation 2019 2 42 (9): 1077-1087. Polat S, Karaburgu S, Ünlühizarc? K, Dündar M, Özkul Y, Arslan Y K, Karaca Z, Kelestimur |
| 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 |
| 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 |
| Exploration of KCNJ5 Somatic Mutation and CYP11B1/CYP11B2 Staining in Multiple Nodules in Primary Aldosteronism. Frontiers in medicine 2022 9 823065. Xie Jing, Zhang Cui, Wang Xuefeng, Jiang Yiran, Wu Luming, Ye Lei, Wang Xuan, Xie Wen, Xu Haimin, Wang Weiqi |
| Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor. European journal of medical genetics 2022 11 65 (12): 104654. Aycan Zehra, Keskin Melik?ah, Lafc? Naz Güleray, Sava?-Erdeve ?enay, Ba? Firdevs, Poyrazo?lu ?ükran, Öztürk P?nar, Parlak Mesut, Ercan Oya, Güran Tülay, Hatipo?lu Nihal, Uçaktürk Seyit Ahmet, Çatl? Gönül, Akyürek Nesibe, Önder A?an, K?l?nç Suna, Çetinkaya Sem |
| Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats. Scientific reports 2022 10 12 (1): 17807. Stachowiak Monika, Szczerbal Izabela, Nowacka-Woszuk Joanna, Nowak Tomasz, Sowinska Natalia, Lukomska Anna, Gogulski Maciej, Badura Malgorzata, Sklorz-Mencel Karolina, Jagodka Dariusz, Nizanski Wojciech, Dzimira Stanislaw, Switonski Mar |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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