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Journal Abstract Search

237 related items for PubMed ID: 21521936

  • 21. Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
    Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB.
    Clin Chem; 2012 Feb; 58(2):421-30. PubMed ID: 22156666
    [Abstract] [Full Text] [Related]

  • 22. Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
    Concolino P, Perrucci A, Carrozza C, Urbani A.
    Mol Diagn Ther; 2023 Sep; 27(5):621-630. PubMed ID: 37548905
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. 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; 96(1):E161-72. PubMed ID: 20926536
    [Abstract] [Full Text] [Related]

  • 26. The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
    Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA.
    Front Endocrinol (Lausanne); 2023 Jan; 14():1156616. PubMed ID: 37324257
    [Abstract] [Full Text] [Related]

  • 27. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
    Araújo RS, Mendonca BB, Barbosa AS, Lin CJ, Marcondes JA, Billerbeck AE, Bachega TA.
    J Clin Endocrinol Metab; 2007 Oct; 92(10):4028-34. PubMed ID: 17666484
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia.
    Concolino P, Vendittelli F, Mello E, Minucci A, Carrozza C, Rossodivita A, Giardina B, Zuppi C, Capoluongo E.
    Clin Endocrinol (Oxf); 2009 Oct; 71(4):470-6. PubMed ID: 19170707
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. 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; 15(2):235-242. PubMed ID: 27376426
    [Abstract] [Full Text] [Related]

  • 32. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

  • 33. 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 Jan; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 34. A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
    Doleschall M, Luczay A, Koncz K, Hadzsiev K, Erhardt É, Szilágyi Á, Doleschall Z, Németh K, Török D, Prohászka Z, Gereben B, Fekete G, Gláz E, Igaz P, Korbonits M, Tóth M, Rácz K, Patócs A.
    Eur J Hum Genet; 2017 Jun; 25(6):702-710. PubMed ID: 28401898
    [Abstract] [Full Text] [Related]

  • 35. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
    Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI.
    J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

  • 36. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
    Vrzalová Z, Hrubá Z, St'ahlová Hrabincová E, Pouchlá S, Votava F, Kolousková S, Fajkusová L.
    Int J Mol Med; 2010 Oct; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

  • 37. Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P.
    Lee HH, Tsai FJ, Lee YJ, Yang YC.
    Mol Genet Metab; 2006 Aug; 88(4):372-7. PubMed ID: 16684614
    [Abstract] [Full Text] [Related]

  • 38. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
    de Carvalho DF, Miranda MC, Gomes LG, Madureira G, Marcondes JA, Billerbeck AE, Rodrigues AS, Presti PF, Kuperman H, Damiani D, Mendonca BB, Bachega TA.
    Eur J Endocrinol; 2016 Aug; 175(2):107-16. PubMed ID: 27185867
    [Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
    Concolino P, Minucci A, Mello E, Zuppi C, Capoluongo E.
    Clin Chem Lab Med; 2009 Mar 01; 47(7):824-5. PubMed ID: 19499972
    [Abstract] [Full Text] [Related]

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