Results 101 to 110 of about 7,344,533 (183)

Molecular Defects of the <i>CYP21A2</i> Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia

, 2010
<i>Background/Aim:</i> To determine the mutations in the <i>CYP21A2</i> gene in Greek-Cypriots with congenital adrenal hyperplasia (CAH) and attempt a genotype-phenotype correlation.
Maria Dracopoulou-Vabouli, Véronique Tardy, Philippos C. Patsalis, Athanasia Varvaresou, Andreas Kyriakou, Leonidas A. Phylactou, Yiannis S. Ioannou, Nicos Skordis, Christos Shammas, Vassos Neocleous   +9 more
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The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China

Clinical, Cosmetic and Investigational Dermatology, 2021
Ting Yang,1,2 Wen-Juan Wu,1 Li-Ming Tian,3 Deng-Feng Zhang,4 Xiao-Yan Yang,1 Jue Qi,1 Ying Tu,1 Li He1 1Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, 650023, People’s Republic of China ...
Yang T, Wu WJ, Tian LM, Zhang DF, Yang XY, Qi J, Tu Y, He L   +7 more
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CYP21A2 mutations in women with polycystic ovary syndrome (PCOS)

, 2013
The question of the contribution of CYP21A2 heterozygosity to the development of polycystic ovary syndrome (PCOS) has repeatedly been raised in the literature. The available data, however, do not offer a satisfactory answer.
Dacou-Voutetakis, C., Settas, N., Dracopoulou-Vabouli, M., Panidis, D., Katsikis, I., Dastamani, A., Chrousos, G.   +6 more
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Estudo de variações de sequência do promotor do gene CYP21A2 em pacientes com suspeita de hiperplasia supra-renal congénita [PDF]

, 2015
Mestrado em Bioquímica - Métodos BiomolecularesA Hiperplasia Supra-Renal Congénita (HSRC), causada por deficiência na enzima 21-hidroxilase, constitui uma das doenças autossómicas recessivas mais frequentes.
Santos, Ana Patrícia Teixeira dos
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A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia

, 2010
A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal HyperplasiaNonclassical congenital adrenal hyperplasia (NCAH) is an autosomal recessive imbalance in cortisol synthesis with adrenal androgen excess ...
M Kocova, E Kocova, V Anastasovska
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Molecular defects of the CYP21A2 gene in greek cypriot patients with congenital adrenal hyperplasia

, 2013
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders of cortisol biosynthesis, which is caused by the loss or severe decrease in the activity of one of the enzymatic steps required for cortisol biosynthesis in the ...
Σκορδής, Νικόλαος, Skordis, Nicos   +1 more
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Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome

Frontiers in Endocrinology
Congenital adrenal hyperplasia (CAH) and Williams Syndrome (WS; MIM # 194050) are distinct genetic conditions characterized by unique clinical features.
Eun Young Joo, Myung Ji Yoo, Su Jin Kim, Woori Jang, Ji-Eun Lee   +4 more
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A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia

, 2010
Congenital adrenal hyperplasia is mainly caused by the deficiency of the 21-hydroxylase enzyme coded by the CYP21A2 gene. However, some alleles inthe nonclassical form (NC-CAH) remain without identified mutations, suggesting the involvement of regulatory
A. Wedell, BALSAMO, ANTONIO, CICOGNANI, ALESSANDRO, MENABO', SOARA, CONTI, VERONICA, BALDAZZI, LILIA, PIRAZZOLI, PIERO, M. Barbaro, NICOLETTI, ANNALISA   +8 more
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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia

, 2020
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq.
Al-Zubaidi, Ahmed K Munib, Yusra G Y Al-Obaidi, Christian Oberkanins, Stefan Németh, Bassam M S Al-Musawi, Ruqayah G Y Al-Obaidi   +6 more
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CYP21A2 gene mutations, its nature and frequency in a paediatric Portuguese cohort with congenital adrenal hyperplasia [PDF]

, 2017
Introduction: The most common cause of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency (21-OHD) caused by alterations in CYP21A2 gene.
Dinis, Isabel, Saraiva, Jorge, Ramos, Lina, Caetano, Joana Serra, Carvalho, Ana Luisa, Mirante, Alice, Ramos, Fabiana, Pereira-Caetano, Iris, Gomes, Susana, Sousa, Sérgio, Maia, Sofia, Gonçalves, João, Garabal, Ana, Cardoso, Rita, Sá, Joaquim, Rosmaninho-Salgado, Joana   +15 more
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