Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: TNXA[original query] |
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Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency. Molecular genetics and metabolism 2008 Apr 93 (4): 450-7. Lee Hsien-Hsiung, Lee Yann-Jinn, Wang Yu-Mei, Chao Hsiang-Tai, Niu Dau-Ming, Chao Mei-Chyn, Tsai Fuu-Jen, Lo Fu-Sung, Lin Shio-Je |
Genes, pseudogenes and like genes: the case of 21-hydroxylase in Italian population. Clinica chimica acta; international journal of clinical chemistry 2013 Sep 424 85-9. Concolino Paola, Mello Enrica, Minucci Angelo, Giardina Bruno, Capoluongo Etto |
Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia. Gene 2018 11 687 30-34. Jayakrishnan Rahul, Lao Qizong, Adams Sharon D, Ward William W, Merke Deborah |
Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X. BMC research notes 2019 Oct 12 (1): 711. Kolli Vipula, Kim Hannah, Rao Hamsini, Lao Qizong, Gaynor Alison, Milner Joshua D, Merke Deborah |
An Integrated Genomic and Transcriptomic Analysis Reveals Candidates of Susceptibility Genes for Crohn's Disease in Japanese Populations.
Scientific reports 2020 Jun 10 (1): 10236. Kakuta Yoichi, Ichikawa Ryo, Fuyuno Yuta, Hirano Atsushi, Umeno Junji, Torisu Takehiro, Watanabe Kazuhiro, Asakura Akihiro, Nakano Takeru, Izumiyama Yasuhiro, Okamoto Daisuke, Naito Takeo, Moroi Rintaro, Kuroha Masatake, Kanazawa Yoshitake, Kimura Tomoya, Shiga Hisashi, Naito Takeshi, Esaki Motohiro, Kawai Yosuke, Tokunaga Katsushi, Nakamura Minoru, Matsumoto Takayuki, Nagasaki Masao, Kinouchi Yoshitaka, Unno Michiaki, Masamune Atsus |
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency. The Journal of clinical endocrinology and metabolism 2020 Apr . Gao Yinjie, Lu Lin, Yu Bingqing, Mao Jiangfeng, Wang Xi, Nie Min, Wu Xuey |
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH). Molecular biology reports 2020 3 47 (4): 3049-3052. Concolino Pao |
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia. The Journal of clinical endocrinology and metabolism 2021 1 106 (7): e2789-e2802. Marino Roxana, Garrido Natalia Perez, Ramirez Pablo, Notaristéfano Guillermo, Moresco Angélica, Touzon Maria Sol, Vaiani Elisa, Finkielstain Gabriela, Obregón María Gabriela, Balbi Viviana, Soria Ianina, Belgorosky Alic |
Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency. Journal of clinical medicine 2022 7 11 (13): . Paragliola Rosa Maria, Perrucci Alessia, Foca Laura, Urbani Andrea, Concolino Pao |
Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X. Genes 2023 2 14 (2): . Lao Qizong, Zhou Kiet, Parker Megan, Faucz Fabio R, Merke Deborah |
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- Page last updated:Apr 22, 2024
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