Results 141 to 150 of about 4,066 (184)

Detection of mutations in theCYP21A2gene: genotype-phenotype correlation in Slovenian couples with conceiving problems [PDF]

, 2015
Špela Stangler Herodež, L Fijavž, Boris Zagradišnik, Nadja Kokalj Vokač   +3 more
openalex   +1 more source

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications. [PDF]

J Endocr Soc
Concolino P, Falhammar H.
europepmc   +1 more source

A Cross-Tissue Transcriptome-Wide Association Study Reveals Novel Susceptibility Genes for Diabetic Kidney Disease in the FinnGen Cohort. [PDF]

Biomedicines
Liu M, Li Z, Lu Y, Sun P, Chen Y, Yang L.   +5 more
europepmc   +1 more source

Measurement of twenty-one serum steroid profiles by UPLC-MS/MS for the diagnosis and monitoring of congenital adrenal hyperplasia. [PDF]

J Mass Spectrom Adv Clin Lab
Lee JH, Lee K, Jun SH, Lee YJ, Shin CH, Lee YA, Song J.   +6 more
europepmc   +1 more source

High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands. [PDF]

Hum Genomics
Wang Y, Zhu G, Li D, Pan Y, Li R, Zhou T, Mao A, Chen L, Zhu J, Zhu M.   +9 more
europepmc   +1 more source

A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype–phenotype nonconcordance

, 2015
Ahmed Khattab, Tony Yuen, Sultan G. Almalki, Mabel Yau, Diya Kazmi, Li Sun, Madeleine D. Harbison, Shozeb Haider, Mone Zaidi, Maria I. New   +9 more
openalex   +1 more source

Combination therapy of GnRHa, RhGH and anastrozole to improve final adult height deficit in CAH children with CPP. [PDF]

BMC Pediatr
Liu X, Liu F, Qi Y, Han X, Ma S, Zheng R.   +5 more
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

Nanoparticles with curcumin and piperine modulate steroid biosynthesis in prostate cancer. [PDF]

Sci Rep
Yakubu J, Natsaridis E, du Toit T, Barata IS, Tagit O, Pandey AV.   +5 more
europepmc   +1 more source

P776: Classification of c.293-7C>G in the CYP21A2 gene: Contributor to congenital adrenal hyperplasia or simply a passenger variant?

Rosalie M. Sterner, Michelle L. Kluge, Heather Glessner, Katrina E. Kotzer, Emily Thoreson, Elyse Love, Matthew Schultz, Ann M. Moyer   +7 more
openalex   +1 more source