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Volumn 31, Issue 7, 2008, Pages 607-609

Salt-wasting congenital adrenal hyperplasia: Genotypical peculiarities in a Sicilian ethnic group

Author keywords

Congenital adrenal hyperplasia; Genotypical peculiarities; Salt waste; Sicilian ethnic group

Indexed keywords

CYTIDINE; CYTOCHROME P450 21A2; GUANOSINE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

EID: 54949117145     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03345610     Document Type: Article
Times cited : (6)

References (19)
  • 2
    • 0034452971 scopus 로고    scopus 로고
    • Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well-defined patients from southern Germany
    • Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well-defined patients from southern Germany. J Clin Endocrinol Metab 2000, 85: 1059-65.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1059-1065
    • Krone, N.1    Braun, A.2    Roscher, A.A.3    Knorr, D.4    Schwarz, H.P.5
  • 3
    • 33947592785 scopus 로고    scopus 로고
    • Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
    • Wilson RC, Nimkam S, Dumic M, et al. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab 2007, 90: 414-21.
    • (2007) Mol Genet Metab , vol.90 , pp. 414-421
    • Wilson, R.C.1    Nimkam, S.2    Dumic, M.3
  • 4
    • 34250663543 scopus 로고    scopus 로고
    • In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype
    • Wasniewska M, Di Pasquale G, Rulli I, et al. In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype. J Endocrinol Invest 2007, 30: 181-5.
    • (2007) J Endocrinol Invest , vol.30 , pp. 181-185
    • Wasniewska, M.1    Di Pasquale, G.2    Rulli, I.3
  • 5
    • 0034454269 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000, 21: 245-91.
    • (2000) Endocr Rev , vol.21 , pp. 245-291
    • White, P.C.1    Speiser, P.W.2
  • 6
    • 0033846590 scopus 로고    scopus 로고
    • CYP21 analisis and phenotype/ genotype relationship in the screened population of the Italian Emilia-Romagna region
    • Balsamo A, Cacciari E, Baldazzi L, et al. CYP21 analisis and phenotype/ genotype relationship in the screened population of the Italian Emilia-Romagna region. Clin Endocrinol (Oxf) 2000, 53: 117-25.
    • (2000) Clin Endocrinol (Oxf) , vol.53 , pp. 117-125
    • Balsamo, A.1    Cacciari, E.2    Baldazzi, L.3
  • 7
    • 22744441059 scopus 로고    scopus 로고
    • Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
    • Dolzan V, Sólyom J, Fekete G, et al. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol 2005, 153: 99-106.
    • (2005) Eur J Endocrinol , vol.153 , pp. 99-106
    • Dolzan, V.1    Sólyom, J.2    Fekete, G.3
  • 8
    • 0034970428 scopus 로고    scopus 로고
    • The spectrum of molecular defects of the CYP21 Gene in the Hellenic population: Variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia
    • Dracopoulou-Vabouli M, Maniati-Christidi M, Dacou-Voutetakis C. The spectrum of molecular defects of the CYP21 Gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001, 86: 2845-8.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2845-2848
    • Dracopoulou-Vabouli, M.1    Maniati-Christidi, M.2    Dacou-Voutetakis, C.3
  • 10
    • 0038644495 scopus 로고    scopus 로고
    • Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydrxylase deficiency: Relevance of genotype for management
    • Pinto G, Tardy V, Trivin C, et al. Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydrxylase deficiency: relevance of genotype for management. J Clin Endocrinol Metab 2003, 88: 2624-33.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 2624-2633
    • Pinto, G.1    Tardy, V.2    Trivin, C.3
  • 11
    • 0042884459 scopus 로고    scopus 로고
    • CYP21 gene mutation analysis in 198 patients with 21-hydroxlase deficiency in the Netherlands: Six novel mutations ad a specific cluster of four mutations
    • Stikkelbroeck NM, Hoefsloot LH, De Wijs IJ, Often BJ, Hermus AR, Sistermans EA. CYP21 gene mutation analysis in 198 patients with 21-hydroxlase deficiency in the Netherlands: six novel mutations ad a specific cluster of four mutations. J Clin Endocrinol Metab 2003, 88: 3852-9.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 3852-3859
    • Stikkelbroeck, N.M.1    Hoefsloot, L.H.2    De Wijs, I.J.3    Often, B.J.4    Hermus, A.R.5    Sistermans, E.A.6
  • 12
    • 0842269752 scopus 로고    scopus 로고
    • Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: Identification of four novel mutations and high prevalence of Q318X mutation
    • Kharrat M, Tardy V, M'Rad R, et al. Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation. J Clin Endocrinol Metab 2004, 89: 368-74.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 368-374
    • Kharrat, M.1    Tardy, V.2    M'Rad, R.3
  • 13
    • 18744364711 scopus 로고    scopus 로고
    • Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran
    • Vakili R, Baradaran-Heravi A, Barid-Fatehi B, Gholamin M, Ghaemi N, Abbaszadegan MR. Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran. Horm Res 2005, 63: 119-24.
    • (2005) Horm Res , vol.63 , pp. 119-124
    • Vakili, R.1    Baradaran-Heravi, A.2    Barid-Fatehi, B.3    Gholamin, M.4    Ghaemi, N.5    Abbaszadegan, M.R.6
  • 14
    • 33144465558 scopus 로고    scopus 로고
    • Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with a novel mutation of CYP21 gene (Q481P)
    • Di Pasquale G, Wasniewska M, Caruso M, et al. Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with a novel mutation of CYP21 gene (Q481P). J Endocrinol Invest 2005, 28: 1038-9.
    • (2005) J Endocrinol Invest , vol.28 , pp. 1038-1039
    • Di Pasquale, G.1    Wasniewska, M.2    Caruso, M.3
  • 15
    • 36949005866 scopus 로고    scopus 로고
    • Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl
    • Di Pasquale L, Indovina S, Wasniewska M, et al. Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl. J Endocrinol Invest 2007, 30: 806-7.
    • (2007) J Endocrinol Invest , vol.30 , pp. 806-807
    • Di Pasquale, L.1    Indovina, S.2    Wasniewska, M.3
  • 16
    • 2442421781 scopus 로고    scopus 로고
    • Functional analysis of two recurrent amino acid substitutions in the CYP21gene from Italian patients with congenital adrenal hyperplasia
    • Barbaro M, Lajic S, Baldazzi L, et al. Functional analysis of two recurrent amino acid substitutions in the CYP21gene from Italian patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004, 89: 2402-7.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 2402-2407
    • Barbaro, M.1    Lajic, S.2    Baldazzi, L.3
  • 17
    • 0029934909 scopus 로고    scopus 로고
    • An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia
    • Lajic S, Wedell A. An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia. Hum Genet 1996, 98: 182-4.
    • (1996) Hum Genet , vol.98 , pp. 182-184
    • Lajic, S.1    Wedell, A.2
  • 18
    • 33751506699 scopus 로고    scopus 로고
    • Divergent phenotype of two siblings human leukocyte antigen identical, affected by non-classical and classical congenital adrenal hyperplasia caused by 21-hydroxylas deficiency
    • Porzio O, Cunsolo V, Malaponti M, et al. Divergent phenotype of two siblings human leukocyte antigen identical, affected by non-classical and classical congenital adrenal hyperplasia caused by 21-hydroxylas deficiency. J Clin Endocrinol Metab 2006, 91: 4510-3.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 4510-4513
    • Porzio, O.1    Cunsolo, V.2    Malaponti, M.3
  • 19
    • 0031759339 scopus 로고    scopus 로고
    • Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: Evidence of different genetic mechanisms involved in the production of the disease
    • López-Gutiérrez AU, Riba L, Ordoñez-Sánchez ML, Ramírez-Jiménez S, Cerrillo-Hinojosa M, Tusié-Luna MT. Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease. J Med Genet 1998, 35: 1014-9.
    • (1998) J Med Genet , vol.35 , pp. 1014-1019
    • López-Gutiérrez, A.U.1    Riba, L.2    Ordoñez-Sánchez, M.L.3    Ramírez-Jiménez, S.4    Cerrillo-Hinojosa, M.5    Tusié-Luna, M.T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.