Registro:

Referencias:

• Azziz, R., Dewailly, D., Owerbach, D., Clinical review 56: Non-classic adrenal hyperplasia: Current concepts (1994) Journal of Clinical Endocrinology and Metabolism, 78, pp. 810-815
• Bachega, T.A., Billerbeck, A.E., Madureira, G., Marcondes, J.A.M., Longui, C.A., Leite, M.V., Arnhold, I.J.P., Mendonca, B.B., Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency (1998) Journal of Clinical Endocrinology and Metabolism, 83, pp. 4416-4419
• Balsamo, A., Cacciari, E., Baldazzi, L., Tartaglia, L., Cassio, A., Montovani, V., Piazzi, S., Zapulla, F., CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia Romagna region (2000) Clinical Endocrinology, 53, pp. 117-125
• Blanché, H., Vexiau, P., Clauin, S., Le Gall, I., Fiet, J., Mornet, E., Dausset, J., Bellanné-Chantelot, C., Exhaustive screening of 21-hydroxylase gene in a population of hyperandrogenic women (1997) Human Genetics, 101, pp. 56-60
• Bobba, A., Marra, E., Giannasttasio, S., Iolascon, A., Monno, F., Di Maio, S., 21-Hydroxylase deficiency in Italy: A distinct distribution pattern of CYP21 mutations in a sample from southern Italy (1999) Journal of Medical Genetics, 36, pp. 648-650
• Carrera, P., Bordone, L., Azzani, T., Brunelli, V., Garancini, M.P., Chiumello, G., Ferrari, M., Point mutations in Italian patients with cassic, non-classis, and cryptic forms of steroid 21-hydroxylase deficiency (1996) Human Genetics, 98, pp. 662-665
• Carroll, M.C., Campbell, R.D., Porter, R.R., Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man (1985) Proceedings of the National Academy of Sciences USA, 82, pp. 521-525
• Dardis, A., Bergadá, I., Bergadá, C., Rivarola, M., Belgorovsky, A., Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia (1997) Journal of Pediatric Endocrinology and Metabolism, 10, pp. 55-61
• Donohoue, P.A., Van Dop, C., McLean, R.H., Bias, W., Migeon, C.J., Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein (1986) Journal of Clinical Endocrinology and Metabolism, 62, pp. 995-1002
• Ezquieta, B., Oliver, A., Gracía, R., Gancedo, P.G., Analysis of steroid 21-hydroxylase gene mutations in Spanish population (1995) Human Genetics, 96, pp. 198-204
• Fardella, C.E., Poggi, H., Pineda, P., Soto, J., Torrealba, I., Cattani, A., Oestreicher, E., Foradori, A., Salt-wasting congenital adrenal hyperplasia: Detection of mutations in CP21B gene in Chilean population (1998) Journal of Clinical Endocrinology and Metabolism, 83, pp. 3357-3360
• Fardella, C.E., Poggi, H., Soto, J., Torrealba, I., Cattani, A., Ugarte, F., Cortinez, A., Foradori, A., Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia (2000) Journal of Endocrinological Investigation, 23, pp. 412-416
• Helmberg, A., Tusie-Luna, M.T., Tabarelli, M., Kofler, R., White, P.C., R339H and P453S: CYP21 mutations associated with non-classic steroid 21-hydroxylase deficiency that are not apparent gene conversion (1992) Molecular Endocrinology, 6, pp. 1318-1322
• Higashi, Y., Yoshioka, H., Yamane, M., Gotoh, O., Fujii-Kuriyama, Y., Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene (1986) Proceedings of the National Academy of Sciences USA, 83, pp. 2841-2845
• Higashi, Y., Tanae, A., Inohue, H., Fujii-Kuriyama, Y., Evidence for frequent gene conversions in the steroid 21-hydroxylase (P-450c21) gene: Implications for 21-hydroxylase deficiency (1988) American Journal of Human Genetics, 42, pp. 17-25
• Jääskeläinen, J., Levo, A., Voutilainen, R., Partanen, J., Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: Good correlation in a well defined population (1997) Journal of Clinical Endocrinology and Metabolism, 82, pp. 3293-3297
• Killeen, A.A., Jiddou, R.R., Sane, K.S., Characterization of frequent polymorphism in intron 2 of CYP21: Application to segregation analysis of CYP21 alleles (1998) Clinical Chemistry, 12, pp. 2410-2415
• Lako, M., Ramsden, S., Campbell, R.D., Strachan, T., Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to preantal diagnosis (1999) Journal of Medical Genetics, 36, pp. 119-124
• Lobato, M.N., Ordoñez-Sánchez, M.L., Tusie-Luna, M.T., Meseguer, A., Mutation analysis in patients with adrenal hyperplasia in the Spanish population: Identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classical form of the disease (1999) Human Heredity, 49, pp. 169-175
• Miller, W.L., Genetics, diagnosis and management of 21-hydroxylase deficiency (1994) Journal of Clinical Endocrinology and Metabolism, 78, pp. 241-246
• Mornet, E., Crété, P., Kuttenn, F., Raux-Demay, M.-C., Boué, J., White, P.C., Boué, A., Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency (1991) American Journal of Human Genetics, 48, pp. 79-88
• New, M.I., Lorenzen, F., Lerner, A.J., Kohn, B., Oberfield, S.E., Pollack, M.S., Dupont, B., Speiser, P.W., Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data (1983) Journal of Clinical Endocrinology and Metabolism, 57, pp. 320-326
• New, M.I., White, P.C., Pang, S., Dupont, B., Speiser, P.W., The adrenal hyperplasias (1989) The Metabolic Basis of Inherited Disease, pp. 1881-1917. , (eds C.R. Scriver, A.L. Beaudet, S. Sly & D. Valle), 6th edn. McGraw-Hill, New York
• Ordoñez-Sánchez, M.L., Ramírez-Jiménez, S., López-Gutierrez, A.U., Riba, L., Gamboa-Cardiel, S., Cerrillo-Hinojos, M., Altamirano-Bustamente, N., Tusié-Luna, M.T., Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: Identification of possible new mutations and high prevalence of apparent germ-line mutations (1998) Human Genetics, 102, pp. 170-177
• Owerbach, D., Ballard, L., Draznin, M.B., Salt-wasting congenital adrenal hyperplasia: Detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction (1992) Jounal of Clinical Endocrinology and Metabolism, 74, pp. 553-558
• Owerbach, D., Sherman, L., Ballard, A.-L., Azziz, R., Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency (1992) Molecular Endocrinology, 6, pp. 1211-1215
• Pang, S., Clark, A., Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relantionship to the diagnosis and treatment of the disorder (1993) Screening, 2, pp. 105-139
• Speiser, P.W., Dupont, B., Rubinstein, P., Piazza, A., Kastelan, A., New, M.I., High frequency of non-classical steroid 21-hydroxylase deficiency (1985) American Journal of Human Genetics, 37, pp. 650-667
• Speiser, P.W., Dupont, B., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M.T., Lesser, M., White, P.C., Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency (1992) Journal of Clinical Investigation, 90, pp. 584-595
• Tusie-Luna, M.T., Traktman, P., White, P.C., Determination of functional effects of mutations in the steroid 21-hydroxylase general (CYP21) using recombinant vaccinia virus (1990) Journal of Biological Chemistry, 265, pp. 20916-20922
• Wedell, A., Luthman, H., Steroid 21-hydroxilase deficiency: Two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations (1993) Human Molecular Genetics, 2, pp. 499-504
• Wedell, A., Thilén, A., Ritzén, E.M., Stengler, B., Luthman, H., Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implication for genetic diagnosis and association with disease manifestation (1994) Journal of Clinical Endocrinology and Metabolism, 78, pp. 1145-1152
• Wedell, A., Chun, X., Luthman, H., A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population (1994) Human Genetics, 93, pp. 204-206
• White, P.C., New, M.I., Dupont, B., Structure of human steroid 21-hydroxylase genes (1986) Proceedings of the National Academy of Sciences USA, 83, pp. 5111-5115
• Wilson, R.C., Mercado, A.B., Cheng, K.C., New, M.I., Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype (1995) Journal of Clinical Endocrinology and Metabolism, 80, pp. 2322-2329
• Witchel, S.F., Smith, R., Crivellaro, C.E., Della Manna, T., Dichtchekenian, V., Setian, N., Damiani, D., CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency (2000) Human Genetics, 106, pp. 414-419

Citas:

---------- APA ----------

---------- CHICAGO ----------

---------- MLA ----------

---------- VANCOUVER ----------