Results 101 to 110 of about 4,066 (184)

Comprehensive Mutation Analysis of the CYP21A2 Gene [PDF]

, 2013
Xu Zhi, Wuyan Chen, Deborah P. Merke, Nazli B. McDonnell   +3 more
openalex   +1 more source

The Spectrum of CYP21A2 Gene Mutations from 16 Families of Congenital Adrenal Hyperplasia: Genotype-Phenotype Correlation

, 2021
Subbiah Sridhar, Ramajayam Govindhan, Balasankar Soundian, Maheshkumar Poomarimuthu, Karuppasamy Nallan, Santhanakrishnan Ramesh kumar, Subbiah Eagappan, Vasanthiy Natarajan, Sangumani Jayaraman   +8 more
openalex   +1 more source

CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function [PDF]

, 2022
Tina Schubert, Nicole Reisch, Ronald Naumann, Ilka Reichardt, Dana Landgraf, Friederike Quitter, Shamini Ramkumar Thirumalasetty, Anne‐Kristin Heninger, Mihail Sarov, Mirko Peitzsch, Angela Huebner, Katrin Koehler   +11 more
openalex   +1 more source

Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts [PDF]

, 2021
Vanita Berry, Nikolas Pontikos, Alex Ionides, Angelos Kalitzeos, Roy A. Quinlan, Michel Michaelides   +5 more
openalex   +1 more source

HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications [PDF]

, 2019
Jana Malíková, Tanja Zingg, Ralph Fingerhut, Susanna H.M. Sluka, Michael Größl, Simone Brixius‐Anderko, Rita Bernhardt, Jane McDougall, Amit V. Pandey, Christa E. Flück   +9 more
openalex   +1 more source

Konjenital Adrenal Hiperplazi Vakalarında CYP21A2 Geni Kopya Sayısı Değişimlerinin MLPA Tekniği İle İncelenmesi

, 2020
Bakhtiyar Mammadov, Aysel Kalaycı Yiğin, Filiz Özdemir, Ahmet Özaydın, Mehmet Seven   +4 more
openalex   +2 more sources

Abundance of DLK1, differential expression of CYP11B1, CYP21A2 and MC2R, and lack of INSL3 distinguish testicular adrenal rest tumours from Leydig cell tumours [PDF]

, 2015
Grete Lottrup, John E. Nielsen, Niels E. Skakkebæk, Anders Juul, Ewa Rajpert‐De Meyts   +4 more
openalex   +1 more source

P455: Long-range PCR and nanopore sequencing method resolves F8, GBA, CYP21A2, SMN1, and TNXB variants using a single streamlined workflow

Genetics in Medicine Open, 2023
C. Edwards, Bradley Martin, M. Roberts, Jon Kemppainen, R. Routsong, Bryan A. Killinger, A. Lara, Chris Fraher, G. Latham, Bradley Hall   +9 more
semanticscholar   +1 more source

Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P [PDF]

, 2007
Vivek Dhir, Hannah E Ivison, Nils Krone, Cedric Shackleton, Aidan J. Doherty, Paul M. Stewart, Wiebke Arlt   +6 more
openalex   +1 more source

Navigating the Complex Landscape of CYP21A2 Variants.

Indian Journal of Pediatrics, 2023
S. Dubey, N. Gupta
semanticscholar   +1 more source