Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Syndrome and TNXB[original query] |
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Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism. BMC urology 2017 12 17 (1): 112. Mizuno Kentaro, Nakane Akihiro, Nishio Hidenori, Moritoki Yoshinobu, Kamisawa Hideyuki, Kurokawa Satoshi, Kato Taiki, Ando Ryosuke, Maruyama Tetsuji, Yasui Takahiro, Hayashi Yuta |
Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients. Biological & pharmaceutical bulletin 2019 42 (9): 1596-1599. Yamada Kazuo, Watanabe Atsushi, Takeshita Haruo, Fujita Atsushi, Miyake Noriko, Matsumoto Naomichi, Matsumoto Ken-Ic |
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 |
[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2021 3 43 (1): 25-31. Li Zi Quan, Geng Mo Zhao, Zhao Sen, Wu Zhi Hong, Zhang Jian Guo, Wu Nan, Wang Yi Pe |
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes. European journal of human genetics : EJHG 2021 3 29 (12): 1745-1755. Fransen Erik, Valgaeren Hanne, Janssens Katleen, Sommen Manou, De Ridder Raphael, Vandeweyer Geert, Bisceglia Luigi, Soler Vincent, Hoischen Alexander, Mortier Geert, Malecaze François, Koppen Carina, Van Camp G |
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:Feb 1, 2024
- Page last updated:Apr 22, 2024
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