Results 171 to 180 of about 2,980 (198)

Combination therapy of GnRHa, RhGH and anastrozole to improve final adult height deficit in CAH children with CPP. [PDF]

BMC Pediatr
Liu X, Liu F, Qi Y, Han X, Ma S, Zheng R.   +5 more
europepmc   +1 more source

Long-Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree. [PDF]

Mol Genet Genomic Med
Chen X, Zhao J, Li D, Xi N, Yi D, Yan M, Yin Y, Wang X.   +7 more
europepmc   +1 more source

Nanoparticles with curcumin and piperine modulate steroid biosynthesis in prostate cancer. [PDF]

Sci Rep
Yakubu J, Natsaridis E, du Toit T, Barata IS, Tagit O, Pandey AV.   +5 more
europepmc   +1 more source

Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?

J Clin Endocrinol Metab
Sarafoglou K, Gaviglio A, Wolf C, Lorentz CP, Lteif A, Kyllo J, Radloff G, Detwiler Z, Cuthbert CD, Hodges JS, Grosse SD, Greene CN, Cordovado S.   +12 more
europepmc   +1 more source

Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Yang M, White PC.
europepmc   +1 more source

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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

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

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