Results 251 to 257 of about 6,020 (257)

Carriers of a pathological variant in CYP21A2 gene- clinical and hormonal status

Endocrine Abstracts, 2023
S. Schipor, C. Procopiuc, C. Stancu, M. Vintila, A. Brehar, A. Muresan, D. Manda, A. Caragheorgheopol, Dumitrica Alina Elena, L. Udrea, S. Vladoiu, I. Gherlan   +11 more
semanticscholar   +1 more source

Gene symbol: CYP21A2.

Human genetics, 2007
Veronique T V, Tardy, Yves, Morel
openaire   +7 more sources

High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia.

Endocrine
L. Ravichandran, Shriti Paul, R. A., Asha Hs, S. Mathai, Anna Simon, S. Danda, Nihal Thomas, A. Chapla   +8 more
semanticscholar   +1 more source

CYP21A2-R484Q mice, a humanized mutant animal model for congenital adrenal hyperplasia

Endocrine Abstracts, 2023
Thirumalasetty Shamini Ramkumar, Tina Schubert, R. Naumann, I. Reichardt, M. Rohm, D. Landgraf, F. Gembardt, M. Peitzsch, M. Hartmann, M. Sarov, S. Wudy, N. Reisch, A. Huebner, K. Koehler   +13 more
semanticscholar   +1 more source

Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.

Cellular and molecular biology (Noisy-le-Grand, France), 2016
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive enzymatic disorder involving the synthesis of adrenal corticosteroids. 21-Hydroxylase deficiency (21-OHD) is the most common form of the disease which is observed in more than 90% of patients with CAH.
K, Forouzanfar, M, Seifi, F, Hashemi-Gorji, N, Karimi, M A, Estiar, M, Karimoei, E, Sakhinia, M, Karimipour, R, Ghergherehchi   +8 more
openaire   +1 more source

Simple-Virilizing Congenital adrenal hyperplasia sustained by five mutations on the CYP21A2 gene

Biomedical Research and Therapy
Gloria Agrimonti, G. Spaggiari, S. Menabò, S. Vezzani, Elisa Magnani, Andrea Frasoldati, A. Granata, Daniele Santi   +7 more
semanticscholar   +1 more source

NCAH prevalance with novel CYP21A2 and CYP11B1 mutations in hirsut turkish women

Endocrine Abstracts, 2017
Keleştimur, Fahrettin, POLAT, SEHER, karaburgu, sülbiye, ÖZKUL, YUSUF, DÜNDAR, MUNİS, ÖZDAMAR KARACA, ZÜLEYHA CİHAN, ÜNLÜHİZARCI, KÜRŞAD   +6 more
openaire   +3 more sources