224 related articles for article (PubMed ID: 32948948)
1. Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Gangodkar P; Khadilkar V; Raghupathy P; Kumar R; Dayal AA; Dayal D; Ayyavoo A; Godbole T; Jahagirdar R; Bhat K; Gupta N; Kamalanathan S; Jagadeesh S; Ranade S; Lohiya N; Oke RL; Ganesan K; Khatod K; Agarwal M; Phadke N; Khadilkar A
Endocrine; 2021 Jan; 71(1):189-198. PubMed ID: 32948948
[TBL] [Abstract][Full Text] [Related]
2. Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
Monteiro A; Pavithran PV; Puthukulangara M; Bhavani N; Nampoothiri S; Yesodharan D; Kumaran R
Hormones (Athens); 2023 Jun; 22(2):311-320. PubMed ID: 36952211
[TBL] [Abstract][Full Text] [Related]
3. Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Ravichandran L; Korula S; Asha HS; Varghese D; Parthiban R ; Johnson J; Ishwarya J; Shetty S; Cherian KE; Jebasingh F; Kapoor N; Pachat D; Mathai S; Simon A; Rajaratnam S; Paul TV; Thomas N; Chapla A
Eur J Med Genet; 2021 Dec; 64(12):104369. PubMed ID: 34718183
[TBL] [Abstract][Full Text] [Related]
4. Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
Li H; Zhu X; Yang Y; Wang W; Mao A; Li J; Bao S; Li J
Clin Chim Acta; 2023 Jul; 547():117419. PubMed ID: 37276943
[TBL] [Abstract][Full Text] [Related]
5. Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia.
Wang W; Han R; Yang Z; Zheng S; Li H; Wan Z; Qi Y; Sun S; Ye L; Ning G
J Steroid Biochem Mol Biol; 2021 Jul; 211():105899. PubMed ID: 33864926
[TBL] [Abstract][Full Text] [Related]
6. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Coeli-Lacchini FB; Turatti W; Elias PC; Elias LL; Martinelli CE; Moreira AC; Antonini SR; de Castro M
Gene; 2013 Sep; 526(2):239-45. PubMed ID: 23570880
[TBL] [Abstract][Full Text] [Related]
7. Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
Saraf S; Srivastava P; Panigrahi I; Seenappa V; Kumar R; Yadav J; Daniel R; Dayal D
Indian J Pediatr; 2024 Feb; 91(2):137-142. PubMed ID: 35094236
[TBL] [Abstract][Full Text] [Related]
8. CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay.
Hong G; Park HD; Choi R; Jin DK; Kim JH; Ki CS; Lee SY; Song J; Kim JW
Ann Lab Med; 2015 Sep; 35(5):535-9. PubMed ID: 26206692
[TBL] [Abstract][Full Text] [Related]
9. Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization.
Oh Y; Park SW; Chun SM; Lim N; Ahn KS; Ka JO; Jin DK; Han BD
Mol Diagn Ther; 2009 Dec; 13(6):397-405. PubMed ID: 19925038
[TBL] [Abstract][Full Text] [Related]
10. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
Fanis P; Skordis N; Phylactou LA; Neocleous V
Hormones (Athens); 2023 Mar; 22(1):71-77. PubMed ID: 36264454
[TBL] [Abstract][Full Text] [Related]
11. Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Liu Y; Chen M; Liu J; Mao A; Teng Y; Yan H; Zhu H; Li Z; Liang D; Wu L
Clin Chem; 2022 Jul; 68(7):927-939. PubMed ID: 35714169
[TBL] [Abstract][Full Text] [Related]
12. Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.
Zhang R; Cui D; Song C; Ma X; Cai N; Zhang Y; Feng M; Cao Y; Chen L; Qiang R
Clin Chim Acta; 2024 Mar; 555():117820. PubMed ID: 38307397
[TBL] [Abstract][Full Text] [Related]
13. Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
Balraj P; Lim PG; Sidek H; Wu LL; Khoo AS
J Endocrinol Invest; 2013 Jun; 36(6):366-74. PubMed ID: 23027774
[TBL] [Abstract][Full Text] [Related]
14. Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
Choi JH; Jin HY; Lee BH; Ko JM; Lee JJ; Kim GH; Jung CW; Lee J; Yoo HW
Exp Clin Endocrinol Diabetes; 2012 Jan; 120(1):23-7. PubMed ID: 22020670
[TBL] [Abstract][Full Text] [Related]
15. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
Concolino P; Mello E; Toscano V; Ameglio F; Zuppi C; Capoluongo E
Clin Chim Acta; 2009 Apr; 402(1-2):164-70. PubMed ID: 19263525
[TBL] [Abstract][Full Text] [Related]
16. 21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
Turan I; Tastan M; Boga DD; Gurbuz F; Kotan LD; Tuli A; Yüksel B
Eur J Med Genet; 2020 Apr; 63(4):103782. PubMed ID: 31586465
[TBL] [Abstract][Full Text] [Related]
17. Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia.
Chi DV; Tran TH; Nguyen DH; Luong LH; Le PT; Ta MH; Ngo HTT; Nguyen MP; Le-Anh TP; Nguyen DP; Bui TH; Ta VT; Tran VK
Mol Genet Genomic Med; 2019 May; 7(5):e623. PubMed ID: 30816000
[TBL] [Abstract][Full Text] [Related]
18. Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
Milacic I; Barac M; Milenkovic T; Ugrin M; Klaassen K; Skakic A; Jesic M; Joksic I; Mitrovic K; Todorovic S; Vujovic S; Pavlovic S; Stojiljkovic M
J Endocrinol Invest; 2015 Nov; 38(11):1199-210. PubMed ID: 26233337
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
Dubey S; Tardy V; Chowdhury MR; Gupta N; Jain V; Deka D; Sharma P; Morel Y; Kabra M
Indian J Med Res; 2017 Feb; 145(2):194-202. PubMed ID: 28639595
[TBL] [Abstract][Full Text] [Related]
20. Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Su L; Yin X; Cheng J; Cai Y; Wu D; Feng Z; Liu L
Clin Chim Acta; 2018 Nov; 486():142-150. PubMed ID: 30048636
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]