PMC Links for Nucleotide (Select 189339203) - PMC

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Items: 4

Select item 55940081.

Cortisol overproduction results from DNA methylation of CYP11B1 in hypercortisolemia

Mitsuhiro Kometani, Takashi Yoneda, Masashi Demura, Hiroshi Koide, Koshiro Nishimoto, Kuniaki Mukai, Celso E. Gomez-Sanchez, Tadayuki Akagi, Takashi Yokota, Shin-ichi Horike, Shigehiro Karashima, Isamu Miyamori, Masakazu Yamagishi, Yoshiyu Takeda

Sci Rep. 2017; 7: 11205. Published online 2017 Sep 11. doi: 10.1038/s41598-017-11435-2

PMCID:: PMC5594008

Article PDF–1.8M

Select item 49127722.

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

Pattaranatcha Charnwichai, Patra Yeetong, Kanya Suphapeetiporn, Vichit Supornsilchai, Taninee Sahakitrungruang, Vorasuk Shotelersuk

BMC Endocr Disord. 2016; 16: 37. Published online 2016 Jun 17. doi: 10.1186/s12902-016-0118-6

PMCID:: PMC4912772

Article PDF–1.0M

Select item 46266583.

A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene

Chrisanthi Marakaki, Anna Papadopoulou, Olga Karapanou, Dimitrios T Papadimitriou, Kleanthis Kleanthous, Anastasios Papadimitriou

Endocrinol Diabetes Metab Case Rep. 2015; 2015: 150074. Published online 2015 Aug 7. doi: 10.1530/EDM-15-0074

PMCID:: PMC4626658

Article PDF–211K

Select item 39925604.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Soara Menabò, Seher Polat, Lilia Baldazzi, Alexandra E Kulle, Paul-Martin Holterhus, Joachim Grötzinger, Flaminia Fanelli, Antonio Balsamo, Felix G Riepe

Eur J Hum Genet. 2014 May; 22(5): 610–616. Published online 2013 Sep 11. doi: 10.1038/ejhg.2013.197