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243 related items for PubMed ID: 34718183

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia.
    Ravichandran L, Varghese D, R P, S AH, Korula S, Thomas N, Chapla A.
    MethodsX; 2022 Jul; 9():101748. PubMed ID: 35756349
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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 10; 526(2):239-45. PubMed ID: 23570880
    [Abstract] [Full Text] [Related]

  • 6. High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia.
    Ravichandran L, Paul S, A R, Hs A, Mathai S, Simon A, Danda S, Thomas N, Chapla A.
    Endocrine; 2024 Jul 10; 85(1):363-369. PubMed ID: 38441846
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 547():117419. PubMed ID: 37276943
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 13(6):397-405. PubMed ID: 19925038
    [Abstract] [Full Text] [Related]

  • 9. Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.
    Aycan Z, Keskin M, Lafcı NG, Savaş-Erdeve Ş, Baş F, Poyrazoğlu Ş, Öztürk P, Parlak M, Ercan O, Güran T, Hatipoğlu N, Uçaktürk SA, Çatlı G, Akyürek N, Önder A, Kılınç S, Çetinkaya S.
    Eur J Med Genet; 2022 Dec 01; 65(12):104654. PubMed ID: 36343887
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 22(2):311-320. PubMed ID: 36952211
    [Abstract] [Full Text] [Related]

  • 11. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
    Shammas C, Byrou S, Phelan MM, Toumba M, Stylianou C, Skordis N, Neocleous V, Phylactou LA.
    Hormones (Athens); 2016 Apr 01; 15(2):235-242. PubMed ID: 27376426
    [Abstract] [Full Text] [Related]

  • 12. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP.
    J Clin Endocrinol Metab; 2011 Jan 01; 96(1):E161-72. PubMed ID: 20926536
    [Abstract] [Full Text] [Related]

  • 13. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, Trebusak Podkrajsek K, Suput Omladic J, Bertok S, Avbelj Stefanija M, Kotnik P, Battelino T, Pribilincova Z, Groselj U.
    Front Endocrinol (Lausanne); 2023 Jan 01; 14():1134133. PubMed ID: 37008950
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 91(2):137-142. PubMed ID: 35094236
    [Abstract] [Full Text] [Related]

  • 15. 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 03; 68(7):927-939. PubMed ID: 35714169
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 555():117820. PubMed ID: 38307397
    [Abstract] [Full Text] [Related]

  • 17. Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
    Lao Q, Burkardt DD, Kollender S, Faucz FR, Merke DP.
    Mol Genet Genomic Med; 2023 Jul 01; 11(7):e2195. PubMed ID: 37157918
    [Abstract] [Full Text] [Related]

  • 18. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
    Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.
    J Clin Res Pediatr Endocrinol; 2009 Jul 01; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

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