Results 161 to 169 of about 2,714 (169)

Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency

Experimental and Clinical Endocrinology and Diabetes, 2012
Jun Ho Choi, G -H Kim, J -H Choi
exaly  

Pregnanetriol in the Range of 1.2-2.1mg/m2/day as an Index of Optimal Control in CYP21A2 Deficiency

Clinical Pediatric Endocrinology, 2007
Masako Izawa
exaly  

Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas

Hormone and Metabolic Research, 2015
Andrzej Ciechanowicz, Bartosz Kiedrowicz, Anhelli Syrenicz   +2 more
exaly  

Functional importance of novel nucleotide variations in the CYP21A2 gene

2021
openaire   +1 more source

Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients

Experimental and Clinical Endocrinology and Diabetes, 2012
Filipa Carvalho, Davide Carvalho, Alberto Barros   +2 more
exaly  

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.

Human genetics, 2010
Ettore, Capoluongo, Paola, Concolino, Francesca, Vendittelli, Cecilia, Zuppi   +3 more
openaire   +1 more source

Discrepant MLPA and genomic sequencing results in CYP21A2 testing

Pathology
Jane Estrella, Tessa Dadd, Zohara Piscopio, Cheryl Wise, Ratna Dubey, Brian Tan   +5 more
openaire   +1 more source

KIT AND METHOD FOR DETECTING HUMAN CYP21A2 GENE MUTATION

2022
TAN HAOWEN, LI YANKE, DOU HAOYU, PAN ZIYE, LI QUAN, YAN SHUQI, LV PEITAO, LI YANG, LIU YANG, LIU YONGCHU   +9 more
openaire   +1 more source

Gene symbol: CYP21A2. Disease: adrenal hyperplasia, CYP21.

Human genetics, 2007
L, Dain, C, Minutolo, N, Buzzalino, S, Belli, A, Oneto, E, Charreau, L, Alba   +6 more
openaire   +1 more source