Results 141 to 150 of about 5,009 (204)

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

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

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

Steroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision. [PDF]

Biol Open
Bacila I, Oberski L, Li N, Storbeck KH, Cunliffe VT, Krone N.   +5 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

Citywide premarital genomic screening in a Middle Eastern population. [PDF]

Nat Med
Alblooshi K, Sharaf R, Shenbagam S, Sinha S, Jain R, Yaslam S, Alfalasi R, Abdulbaki A, Alyassi A, Alyafei H, Ramaswamy S, Jaber I, Sato M, Chekroun I, Rabea F, Khadija S, El Naofal M, Sheikh Hassani M, Taylor A, Farag M, Jamalalail B, Sarhan A, AlHajjaj S, Almadhoun F, Elsawy D, Alkhnbashi OS, Khansaheb H, Al Suwaidi H, Aldafrawy O, Albasti A, AlAwadhi M, Alsheikh-Ali A, Abou Tayoun A.   +32 more
europepmc   +1 more source

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients. [PDF]

J Ovarian Res
Huang Y, Jiang H, Zhu X, Mao A, Cui D, Zhao Y, Wang Y, Long X, Qiao J.   +8 more
europepmc   +1 more source