Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Syndrome and CYP21A2[original query] |
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A favorable metabolic and antiatherogenic profile in carriers of CYP21A2 gene mutations supports the theory of a survival advantage in this population. Hormone research 2009 72 (6): 337-43. Livadas Sarantis, Dracopoulou Maria, Lazaropoulou Christina, Papassotiriou Ioannis, Sertedaki Amalia, Angelopoulos G Nick, Chrousos George P, Dacou-Voutetakis Catheri |
CYP21A2 mutations in women with polycystic ovary syndrome (PCOS). Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2013 May 45 (5): 383-6. Settas N, Dracopoulou-Vabouli M, Dastamani A, Katsikis I, Chrousos G, Panidis D, Dacou-Voutetakis |
Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems. Balkan journal of medical genetics : BJMG 2015 Dec 18 (2): 25-32. Stangler Herodež Š, Fijavž L, Zagradišnik B, Kokalj Voka? |
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 |
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia. The Journal of steroid biochemistry and molecular biology 2019 Dec 105554. Guarnotta Valentina, Niceta Marcello, Bono Marianna, Marchese Serena, Fabiano Carmelo, Indelicato Serena, Di Gaudio Francesca, Garofalo Piernicola, Giordano Car |
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 |
Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development. Diagnostics (Basel, Switzerland) 2021 6 11 (6): . Lidaka Lasma, Bekere Laine, Lazdane Gunta, Dzivite-Krisane Iveta, Kivite-Urtane Anda, Gailite Lin |
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 |
An Investigation of Steroid Biosynthesis Pathway Genes in Women with Polycystic Ovary Syndrome. Journal of human reproductive sciences 2022 11 15 (3): 240-249. Sharma Priyal, Jain Manish, Halder Ashuto |
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 |
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
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- Page last updated:Apr 16, 2024
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