Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Hyperplasia and 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 |
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 |
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 |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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