Results 141 to 150 of about 3,461 (195)

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

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

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

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

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

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai. [PDF]

Hum Genomics
Hua R, Li S, Cui D, Lu Y, Li Y, Lin Y, Gao L, Lv S, Ma R, Mao A, Han X, Wang J, Wang Y.   +12 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

[Clinical and genetic characteristics of congenital adrenal hyperplasia: a retrospective analysis]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Wang CJ, Zhang YW, Liu DP, Jin J, Li ZH, Guo J, Zhang YD, Yang HH, Kang WQ.   +8 more
europepmc   +1 more source