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Journal Abstract Search

188 related items for PubMed ID: 37548905

  • 1. 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]

  • 2. 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]

  • 3. CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
    Santos-Silva R, Cardoso R, Lopes L, Fonseca M, Espada F, Sampaio L, Brandão C, Antunes A, Bragança G, Coelho R, Bernardo T, Vieira P, Morais R, Leite AL, Ribeiro L, Carvalho B, Grangeia A, Oliveira R, Oliveira MJ, Rey V, Rosmaninho-Salgado J, Marques B, Garcia AM, Meireles A, Carvalho J, Sequeira A, Mirante A, Borges T, on behalf of the Portuguese Society of Pediatric Endocrinology and Diabetology.
    Horm Res Paediatr; 2019 Sep 10; 91(1):33-45. PubMed ID: 30889569
    [Abstract] [Full Text] [Related]

  • 4. 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 Sep 10; 14():1134133. PubMed ID: 37008950
    [Abstract] [Full Text] [Related]

  • 5. 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 10; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

  • 6. Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
    Kocova M, Concolino P, Falhammar H.
    Front Endocrinol (Lausanne); 2021 Jan 10; 12():788812. PubMed ID: 35140681
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 486():142-150. PubMed ID: 30048636
    [Abstract] [Full Text] [Related]

  • 8. Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia.
    Karaoğlan M, Nacarkahya G, Aytaç EH, Keskin M.
    J Endocrinol Invest; 2021 Nov 10; 44(11):2395-2405. PubMed ID: 33677812
    [Abstract] [Full Text] [Related]

  • 9. 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 Nov 10; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 175(2):107-16. PubMed ID: 27185867
    [Abstract] [Full Text] [Related]

  • 11. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
    Torres N, Mello MP, Germano CM, Elias LL, Moreira AC, Castro M.
    Braz J Med Biol Res; 2003 Oct 10; 36(10):1311-8. PubMed ID: 14502362
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 13. Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
    Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J.
    Mol Genet Genomic Med; 2019 Jun 10; 7(6):e671. PubMed ID: 30968594
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 63(4):103782. PubMed ID: 31586465
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 91(2):137-142. PubMed ID: 35094236
    [Abstract] [Full Text] [Related]

  • 16. Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
    Fernández CS, Taboas M, Bruque CD, Benavides-Mori B, Belli S, Stivel M, Oneto A, Pasqualini T, Delea M, Espeche LD, Kolomenski JE, Alba L, Buzzalino N, Dain L.
    Clin Endocrinol (Oxf); 2020 Jul 10; 93(1):19-27. PubMed ID: 32289882
    [Abstract] [Full Text] [Related]

  • 17. 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 10; 65(12):104654. PubMed ID: 36343887
    [Abstract] [Full Text] [Related]

  • 18. Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center.
    Kurzyńska A, Skalniak A, Franson K, Bistika V, Hubalewska-Dydejczyk A, Przybylik-Mazurek E.
    Hormones (Athens); 2022 Jun 10; 21(2):241-249. PubMed ID: 35079965
    [Abstract] [Full Text] [Related]

  • 19. Genotype-phenotype correlation in patients with 21-hydroxylase deficiency.
    Tang P, Zhang J, Peng S, Wang Y, Li H, Wang Z, Zhang Y, Huang Y, Xu J, Zhang D, Liu Q, Wang L, Lan W, Jiang J.
    Front Endocrinol (Lausanne); 2023 Jun 10; 14():1095719. PubMed ID: 36992809
    [Abstract] [Full Text] [Related]

  • 20. A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.
    Anastasovska V, Kocova M, Zdraveska N, Stojiljkovic M, Skakic A, Klaassen K, Pavlovic S.
    Endocrine; 2021 Jul 10; 73(1):196-202. PubMed ID: 33715135
    [Abstract] [Full Text] [Related]

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