Results 151 to 160 of about 2,980 (198)

Causal associations between congenital adrenal hyperplasia and neuropsychiatric conditions- a Mendelian Randomization Study. [PDF]

Endocrine
Liu Y, Gang X, Gao Y, Wang G.
europepmc   +1 more source

P227: High carrier frequency of CYP21A2 hotspot mutations in Southern India: Underscoring the need for genetic testing in congenital adrenal hyperplasia [PDF]

Lavanya Ravichandran, Shriti Paul, A Rekha, Asha HS, Sarah Mathai, Anna Simon, Sumitha Danda, Nihal Thomas, Aaron Chapla   +8 more
openalex   +1 more source

Assessing cortisol levels in non-classical congenital adrenal hyperplasia: focus on the V281L variant. [PDF]

Ther Adv Endocrinol Metab
Bilici ME, Iklar Z, Özsu E, Aycan Z, Uyanık R, Ceran A, Berberoğlu M.   +6 more
europepmc   +1 more source

Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency. [PDF]

JCEM Case Rep
Yousaf S, Nizar R, Alias G, Taylor D, Fulton P, Antoniadi T.   +5 more
europepmc   +1 more source

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

, 2007
Masako Izawa, Keiko Aso, Asako Higuchi, Daisuke Ariyasu, Yukihiro Hasegawa   +4 more
openalex   +2 more sources

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China. [PDF]

Int J Neonatal Screen
Wang X, Lu X, Zheng F, Lin K, Liao M, Dong Y, Chen T, He Y, Lu M, Chen J, Li Y, Zhou Y.   +11 more
europepmc   +1 more source

Genetic profiling of synchronous pituitary corticotroph adenomas. [PDF]

Pituitary
Zhang D, Tsai K, Santana C, Javaherian K, Lee M, Bergsneider M, Kim W, Wang MB, Vinters HV, Yan W, Heaney AP.   +10 more
europepmc   +1 more source

PGT-M as A Family Planning Tool for A Couple in Which The Woman Carries A Novel NCAH Variant and A CYP21A2 Variant also Present in Her Husband: A Case Report. [PDF]

Int J Fertil Steril
Cavagnoli M, Augusta Tamm M, White Loureiro Souza V, Cerveró A, Mikulski Ali T, Cuzzi J, Riboldi M, Del Collado M.   +7 more
europepmc   +1 more source

Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam. [PDF]

Ann Pediatr Endocrinol Metab
Nguyen KN, Dang GTK, Can NTB, Tran DM, Bui TP, Phuong MNT, Pham HT, Ngo ND, Vu DC.   +8 more
europepmc   +1 more source

9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH

А.Г. Матвеева, Yuansong Xu, Véronique Tardy-Guidollet, Amit V. Pandey   +3 more
openalex   +1 more source