Results 121 to 130 of about 4,073 (218)

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
doaj   +1 more source

Адреногенітальний синдром: молекулярні механізми розвитку [PDF]

, 2017
На довгому, багатоступінчастому шляху біосинтезу стероїдних гормонів від холестеролу до кортизолу, тестостерону й естрадіолу внаслідок мутацій генів виникає недостатність ферментів стероїдогенезу в надниркових залозах: холестерол-десмолази, 3β ...
Пішак, Василь Павлович, Ризничук, Мар'яна Олександрівна   +1 more
core  

CYP21A2 Gene [PDF]

, 2020
openaire   +1 more source

Whole-Exome Sequencing Study of Thyrotropin-Secreting Pituitary Adenomas [PDF]

, 2018
学位記番号 ...
Santosh, Sapkota, Santosh, Sapkota, サントス, サプコタ   +2 more
core  

Comprehensive Mutation Analysis of the CYP21A2 Gene

The Journal of Molecular Diagnostics, 2013
Xu, Zhi, Chen, Wuyan, Merke, Deborah P., McDonnell, Nazli B.   +3 more
openaire   +1 more source

Defects of steroidogenesis [PDF]

, 2018
In the biosynthesis of steroid hormones the neutral lipid cholesterol, a normal constituent of lipid bilayers is transformed via a series of hydroxylation, oxidation, and reduction steps into a vast array of biologically active compounds ...
Balercia, G., Biason-Lauber, A., Boscaro, M., Mantero, F.   +3 more
core  

Pathway landscape and regulatory networks of epigenetically modified Breast Cancer genes [PDF]

Epigenetic changes are a key regulator of gene expression in different cancer histotypes. After investigating the differentially expressed genes upon treatment with a demethylating agent, e.g.
Capobianco, Enrico, Cinti, Caterina, El Baroudi, Mariama, La Sala, Dario   +3 more
core  

Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.

Iranian journal of pediatrics, 2012
Congenital adrenal hyperplasia (CAH) is characterized by impaired biosynthesis of cortisol. 21-hydroxylase deficiency is the most common cause of CAH affecting 1 in 10000-15000 live births over the world. The frequency of the disorder is very high in Iran due to frequent consanguineous marriages.
Rabbani, B., Mahdieh, N., Ashtiani, M. T. H., Akbari, M. T., Rabbani, A.   +4 more
openaire   +1 more source

A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in the <i>CYP21A2</i> Gene. [PDF]

Int J Mol Sci
Antysheva Z, Esibov A, Avsievich E, Petriaikina E, Yudin V, Keskinov A, Yudin S, Svetlichnyy D, Krupinova J, Ivashechkin A, Katsaran Y, Woroncow M, Skvortsova V, Bogdanov V, Volchkov P.   +14 more
europepmc   +1 more source

Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia. [PDF]

Int J Appl Basic Med Res
Kumar KCP, Banik S, Joy P, Sahoo S.
europepmc   +1 more source