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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Hyperplasia and TNXA[original query]
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
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