Results 111 to 120 of about 2,714 (169)

Neonatal Screening for CAH in Sweden-Results of Implementing Second-Tier Testing. [PDF]

Int J Neonatal Screen
Engström K, Zetterström RH, Wedell A, Nordenström A.   +3 more
europepmc   +1 more source

Renalase stimulates aldosterone production via PMCA4b/cAMP in NCI-H295R cells. [PDF]

J Enzyme Inhib Med Chem
Fu R, Huang M, Liu T, Chen Y, Li X, Jiang W.   +5 more
europepmc   +1 more source

Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report. [PDF]

Cureus
Harada A, Anno T, Isobe H, Kaku K, Kaneto H.   +4 more
europepmc   +1 more source

Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges. [PDF]

Genes (Basel)
Glotov AS, Nasykhova YA, Lazareva TE, Dvoynova NM, Shabanova ES, Danilova MM, Osinovskaya NS, Barbitoff YA, Maretina MA, Gorodnicheva EE, Tonyan ZN, Kiselev AV, Basipova AA, Bespalova ON, Kogan IY.   +14 more
europepmc   +1 more source

Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Graves LE, Christina S, Mullany KL, Alexander IE, Falhammar H.   +4 more
europepmc   +1 more source

Simple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report. [PDF]

Front Endocrinol (Lausanne)
Liang L, Su X, Zhang Y, Wang Z, Zhang G, Bai J, Li J.   +6 more
europepmc   +1 more source

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.

J Clin Endocrinol Metab
Lao Q, Schulman A, Kulkarni S, Kollender S, Bick D, Moon A, Burkardt D, Merke DP.   +7 more
europepmc   +1 more source

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. [PDF]

Arch Dis Child
Olthof A, Bouva MJ, Claahsen-van der Grinten HL, Westra D, Dekkers E, Heijboer AC, Hannema SE, Boelen A.   +7 more
europepmc   +1 more source

Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology. [PDF]

Risk Manag Healthc Policy
Chen Y, Yu Q, Ge L, Weng L, Pan X, Zhou X, Zhou N, Wang Y, Jia J, Li H.   +9 more
europepmc   +1 more source

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.

J Clin Endocrinol Metab
Rojas Velazquez MN, Lopez Dacal J, Jørgensen FS, Sanguineti N, Sharma K, Marino R, Pérez Garrido N, Vaiani E, Ramírez P, Scaglia P, Izquierdo A, Sansó G, Ropelato MG, Bergadá I, Rey RA, Grinspon RP, Pandey AV.   +16 more
europepmc   +1 more source