Results 131 to 140 of about 2,714 (169)

Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report [PDF]

J Clin Res Pediatr Endocrinol
Rizzuto P, Gangat M, Khattab A, Marshall I.   +3 more
europepmc   +1 more source

Adrenal Venous Sampling Aids in Distinguishing 17-Hydroxyprogesterone Hypersecreting Adrenal Cortical Adenomas from Non-Classical 21-Hydroxylase Deficiency. [PDF]

Diagnostics (Basel)
Qiu R, Yang T, Shang C, Zhu W, Zheng F.
europepmc   +1 more source

A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a <i>De Novo</i> INSR c.3328G>C mutation. [PDF]

Front Endocrinol (Lausanne)
Ji C, Zheng X, Wang Q, Chen Z.
europepmc   +1 more source

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Genetic defects of the CYP21A2 gene in girls with premature adrenarche

Journal of Endocrinological Investigation, 2014
To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA).The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP21A2 gene.Twelve girls were diagnosed with non-classic congenital adrenal hyperplasia (NC-CAH) based on ...
Skordis, N., Shammas, C., Phedonos, A. A. P., Kyriakou, A., Toumba, M., Neocleous, V., Phylactou, L. A.   +6 more
exaly   +3 more sources

Analysis of the CYP21A1P pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes

Analytical Biochemistry, 2011
The CYP21A1P gene downstream of the XA gene, carrying 15 deteriorated mutations, is a nonfunctional pseudogene that shares 98% nucleotide sequence homology with CYP21A2 located on chromosome 6p21.3. However, these mutations in the CYP21A1P gene are not totally involved in each individual. From our analysis of 100 healthy ethnic Chinese (i.e., Taiwanese)
Li-Ping, Tsai, Ching-Feng, Cheng, Shu-Hua, Chuang, Hsien-Hsiung, Lee   +3 more
openaire   +2 more sources

Analysis of CYP21A1P and the duplicated CYP21A2 genes

Gene, 2012
The RCCX module on chromosome 6p21.3 has 3 possible forms: monomodular, bimodular, and trimodular. Chromosomes with 4 RCCX modules are very rare. In the monomodule, most of the CYP21A1P genes do not exist. However, haplotypes of the RCCX module with more than one CYP21A2 gene were observed.
Li-Ping, Tsai, Hsien-Hsiung, Lee
openaire   +2 more sources

CYP21A2 genetics: When genotype does not fit phenotype

Clinical Biochemistry, 2016
• To increase awareness of genotype–phenotype correlation in congenital adrenal ...
Sani I, Rossodivita AN, Mariani M, Costella A, Molinario R, Concolino P, Capoluongo E   +6 more
openaire   +4 more sources

การวิเคราะห์การกลายพันธุ์ของยีน CYP21A2 ในผู้ป่วยไทยที่มีภาวะพร่องเอนไซม์ 21-ไฮดรอกซิเลส

2023
โรคต่อมหมวกไตชั้นนอกโตผิดปกติตั้งแต่กำเนิด เป็นโรคทางพันธุกรรมที่พบได้บ่อยที่สุดในกลุ่มโรคต่อมหมวกไตชั้นนอก มากกว่าร้อยละ 90 ของผู้ป่วยโรคนี้มีสาเหตุมาจากภาวะพร่องเอนไซม์ 21-ไฮดรอกซิเลส โดยถ่ายทอดทางพันธุกรรมแบบยีนด้อยบนออโตโซม ซึ่งเกิดจากการกลายพันธุ์ของยีน CYP21A2 ที่มีหน้าที่ควบคุมการสร้างเอนไซม์ 21-ไฮดรอกซิเลส ในวิถีการสังเคราะห์ฮอร์โมนสเตียรอยด ...
openaire   +1 more source

CYP21A2 intronic variants causing 21-hydroxylase deficiency

Metabolism, 2017
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene.
Concolino, P, Rizza, R, Costella, A, Carrozza, C, Zuppi, C, Capoluongo, E.   +5 more
openaire   +3 more sources

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.

Human genetics, 2008
No abstract ...
Capoluongo, Ettore Domenico, Concolino, Paola, Carrozza, Cinzia, Santonocito, Concetta, Zuppi, Cecilia   +4 more
openaire   +6 more sources