Results 171 to 180 of about 4,073 (218)

Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations. [PDF]

Front Pediatr
Zeng J, Huang X, Li Y, Yan T, Lou J, Lyu G, Li Y.   +6 more
europepmc   +1 more source

Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience. [PDF]

Int J Neonatal Screen
Jia X, Xie T, Jiang X, Tang F, Tan M, Chen Q, Liu S, Huang Y, Tao L.   +8 more
europepmc   +1 more source

[Clinical and genetic characteristics of congenital adrenal hyperplasia: a retrospective analysis]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Wang CJ, Zhang YW, Liu DP, Jin J, Li ZH, Guo J, Zhang YD, Yang HH, Kang WQ.   +8 more
europepmc   +1 more source

Disruptive effects of phthalates and their substitutes on adrenal steroidogenesis. [PDF]

Front Endocrinol (Lausanne)
Pötzl B, Kurlbaum M, Kendl S, Kürzinger L, Herterich S, Kloock S, Fassnacht M, Dischinger U.   +7 more
europepmc   +1 more source

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

van der Sanden B, Betz C, Herzog K, Schamschula E, Wimmer K, Vater I, Balachandran S, Chen X, Corominas Galbany J, Timmermans R, Derks R, HiFi Solves EMEA Consortium, Spielmann M, Eberle MA, Gilissen C, Vissers LE, Zschocke J, Bolz HJ, Hoischen A.   +18 more
europepmc   +1 more source

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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

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

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
openaire   +2 more sources

Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia

Indian Journal of Pediatrics, 2022
To characterize the CYP21A2 gene mutations in children with classic congenital adrenal hyperplasia (CAH).A prospective, cross-sectional study was conducted on 24 children with classic CAH. Molecular characterization of the CYP21A2 gene was carried out by Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), or clinical exome ...
Shaily Saraf, Priyanka Srivastava, Inusha Panigrahi, Venu Seenappa, Rakesh Kumar, Jaivinder Yadav, Roshan Daniel, Devi Dayal   +7 more
openaire   +2 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