-
1
-
-
0034454269
-
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21: 245-291
-
(2000)
Endocr Rev
, vol.21
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
2
-
-
0004136246
-
-
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York
-
Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual, 2nd ed., Vols. 1,2 and 3, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1989.
-
(1989)
Molecular Cloning: A Laboratory Manual, 2nd Ed.
, vol.1-3
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
3
-
-
0029961205
-
Extraction of DNA using guanidine hydrochloride method and storage of DNA samples
-
Průša R, Vošmik M: Extraction of DNA using guanidine hydrochloride method and storage of DNA samples. Klin Biochem Metab 1996;4(25): 233-236.
-
(1996)
Klin Biochem Metab
, vol.4
, Issue.25
, pp. 233-236
-
-
Průša, R.1
Vošmik, M.2
-
4
-
-
0030944111
-
Rapid screening method for detecting mutations in the 21-hydroxylase gene
-
Oriola J, Plensa I, Machuca, I, Pavia C, Rivera-Fillat, F: Rapid screening method for detecting mutations in the 21-hydroxylase gene. Clin Chem 1997; 43 (4): 557-561.
-
(1997)
Clin Chem
, vol.43
, Issue.4
, pp. 557-561
-
-
Oriola, J.1
Plensa, I.2
Machuca, I.3
Pavia, C.4
Rivera-Fillat, F.5
-
5
-
-
0026641101
-
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC: Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992; 90: 584-595.
-
(1992)
J Clin Invest
, vol.90
, pp. 584-595
-
-
Speiser, P.W.1
Dupont, J.2
Zhu, D.3
Serrat, J.4
Buegeleisen, M.5
Tusie-Luna, M.T.6
Lesser, M.7
New, M.I.8
White, P.C.9
-
6
-
-
0030901649
-
Mutation- haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Omplications for the population history of defective alleles
-
Levo A, Partanen J: Mutation- haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Omplications for the population history of defective alleles. Hum Genet 1997; 99: 488-497
-
(1997)
Hum Genet
, vol.99
, pp. 488-497
-
-
Levo, A.1
Partanen, J.2
-
7
-
-
0034452971
-
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 Endocr Metab 2000; 85: 1059-1065.
-
(2000)
J Clin Endocr Metab
, vol.85
, pp. 1059-1065
-
-
Krone, N.1
Braun, A.2
Roscher, A.A.3
Knorr, D.4
Schwarz, H.P.5
-
8
-
-
0033305757
-
Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia
-
Ferenczi A, Garami M, Kiss E, Pek M., Sasvari-Sekely M, Barta C, Staub M, Solyom J, Fekete G: Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia. J Clin Endocr Metab 1999; 84: 2369-2372.
-
(1999)
J Clin Endocr Metab
, vol.84
, pp. 2369-2372
-
-
Ferenczi, A.1
Garami, M.2
Kiss, E.3
Pek, M.4
Sasvari-Sekely, M.5
Barta, C.6
Staub, M.7
Solyom, J.8
Fekete, G.9
-
9
-
-
0028208951
-
Mutational spectrum of steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
-
Wedell A, Thilén A, Ritzén EM, Stengler B, Luthman H: Mutational spectrum of steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation. J Clin Endocr Metab 1994; 78: 1145-1151.
-
(1994)
J Clin Endocr Metab
, vol.78
, pp. 1145-1151
-
-
Wedell, A.1
Thilén, A.2
Ritzén, E.M.3
Stengler, B.4
Luthman, H.5
-
10
-
-
0029075631
-
Analysis of steroid 21-hydroxylase gene mutations in the Spanish population
-
Ezquieta B, Oliver A, Garcia R, Gancedo PG: Analysis of steroid 21-hydroxylase gene mutations in the Spanish population. Hum Genet 1995; 96: 98-204.
-
(1995)
Hum Genet
, vol.96
, pp. 98-204
-
-
Ezquieta, B.1
Oliver, A.2
Garcia, R.3
Gancedo, P.G.4
-
11
-
-
0141704649
-
Mutations spectrum of 21-hydroxylase gene in Egypt
-
Fawaz L, Peter M, Ghaly I, Hafez M, Sippel WG: Mutations spectrum of 21-hydroxylase gene in Egypt. Horm. Res 1997; 48 (suppl 2): 97.
-
(1997)
Horm Res
, vol.48
, Issue.SUPPL. 2
, pp. 97
-
-
Fawaz, L.1
Peter, M.2
Ghaly, I.3
Hafez, M.4
Sippel, W.G.5
-
12
-
-
0344085885
-
Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations and in vitro analysis
-
Ohlsson G, Muller J, Skakkbaek NE, Schwartz M: Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations and in vitro analysis. Hum Mutat 1999; 13 (6): 482-486.
-
(1999)
Hum Mutat
, vol.13
, Issue.6
, pp. 482-486
-
-
Ohlsson, G.1
Muller, J.2
Skakkbaek, N.E.3
Schwartz, M.4
-
13
-
-
0029858384
-
Point mutations in Italian patients with classic, non-classic and cryptic forms of steroid 21-hydroxylase deficiency
-
Carrera P, Bordone L, Azzani T, Brunelli V, Garancini MP, Chiumello G, Ferrari M: Point mutations in Italian patients with classic, non-classic and cryptic forms of steroid 21-hydroxylase deficiency. Hum Genet 1996; 98: 662-665.
-
(1996)
Hum Genet
, vol.98
, pp. 662-665
-
-
Carrera, P.1
Bordone, L.2
Azzani, T.3
Brunelli, V.4
Garancini, M.P.5
Chiumello, G.6
Ferrari, M.7
-
14
-
-
0035117969
-
Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Mathur R, Menon PS, Kabra M, Goyal RK, Verma IC: Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J Pediatr Endocrinol. Metab 2001; 14: 27-35
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, pp. 27-35
-
-
Mathur, R.1
Menon, P.S.2
Kabra, M.3
Goyal, R.K.4
Verma, I.C.5
-
15
-
-
0032861688
-
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
-
Asanuma A, Ohura T, Ogawa E, Sato S, Igarashi Y, Matsubara Y, Linuma K: Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency. J Hum Genet 1999; 44: 312-317.
-
(1999)
J Hum Genet
, vol.44
, pp. 312-317
-
-
Asanuma, A.1
Ohura, T.2
Ogawa, E.3
Sato, S.4
Igarashi, Y.5
Matsubara, Y.6
Linuma, K.7
-
16
-
-
0034454685
-
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency in Chinese
-
Lee HH, Kuo JM, Chao HT, Lee YJ, Chang JG, Tsai CH, Chung BC: Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency in Chinese. J Clin Endocr Metab 2000; 85: 597-600.
-
(2000)
J Clin Endocr Metab
, vol.85
, pp. 597-600
-
-
Lee, H.H.1
Kuo, J.M.2
Chao, H.T.3
Lee, Y.J.4
Chang, J.G.5
Tsai, C.H.6
Chung, B.C.7
-
17
-
-
0031910562
-
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): Implications for diagnosis, prognosis and treatment
-
Wedell A: Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. Acta Paediatr 1998; 87: 159-164
-
(1998)
Acta Paediatr
, vol.87
, pp. 159-164
-
-
Wedell, A.1
-
18
-
-
0032452471
-
Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency
-
Bachega TA, Billerbeck AE, Madueira G, Marcondes JA, Longui CA, Leite MV, Arnhold IJ, Mendonca BB: Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency. J Clin Endocr Metab 1998; 83: 4416-4419.
-
(1998)
J Clin Endocr Metab
, vol.83
, pp. 4416-4419
-
-
Bachega, T.A.1
Billerbeck, A.E.2
Madueira, G.3
Marcondes, J.A.4
Longui, C.A.5
Leite, M.V.6
Arnhold, I.J.7
Mendonca, B.B.8
-
19
-
-
0028934494
-
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
-
Barbat B, Bogyo A, Roux-Demay MC, Kuttenn F, Boue D, Simon-Bouy B, Serre JL, Mornet E: Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency. Hum. Mutat 1995; 5: 126-130.
-
(1995)
Hum Mutat
, vol.5
, pp. 126-130
-
-
Barbat, B.1
Bogyo, A.2
Roux-Demay, M.C.3
Kuttenn, F.4
Boue, D.5
Simon-Bouy, B.6
Serre, J.L.7
Mornet, E.8
-
20
-
-
0030983249
-
Mutations of the steroid 21-hydroxylase in argentinian population of 36 patients with classical congenital adrenal hyperplasia
-
Dardis A, Bergada I, Bergada C, Rivarola A, Belgorsky A: Mutations of the steroid 21-hydroxylase in argentinian population of 36 patients with classical congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 1997; 10: 55-61.
-
(1997)
J Pediatr Endocrinol Metab
, vol.10
, pp. 55-61
-
-
Dardis, A.1
Bergada, I.2
Bergada, C.3
Rivarola, A.4
Belgorsky, A.5
-
21
-
-
0031772706
-
Salt-Wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population
-
Fardella CE, Poggi H, Pineda P, Soto J, Torrealba I, Cattani A, Oestreicher E, Foradori A: Salt-Wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population. J Clin Endocr Metab 1998; 83: 3357-3360.
-
(1998)
J Clin Endocr Metab
, vol.83
, pp. 3357-3360
-
-
Fardella, C.E.1
Poggi, H.2
Pineda, P.3
Soto, J.4
Torrealba, I.5
Cattani, A.6
Oestreicher, E.7
Foradori, A.8
-
22
-
-
0033028438
-
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
-
Lako M, Ramsden S, Campbell RD, Strachan T: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis. J Med Genet 1999; 36: 119-124.
-
(1999)
J Med Genet
, vol.36
, pp. 119-124
-
-
Lako, M.1
Ramsden, S.2
Campbell, R.D.3
Strachan, T.4
-
23
-
-
2642651108
-
Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in Mexican population: Identification of possible new mutations and high prevalence of apparent germ-line mutations
-
Ordonez-Sanchez, ML., Ramirez-Jimenez SR, Gutierrez, AU, Riba L, Gamboa-Cardiel S, Hinojosa MC, Altamirano-Bustamante N, Calzada-Leon R, Robles-Valdes C, Mendoza-Morfin F, Tusie-Luna MT: Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations. Hum Genet 1998; 102: 170-177.
-
(1998)
Hum Genet
, vol.102
, pp. 170-177
-
-
Ordonez-Sanchez, M.L.1
Ramirez-Jimenez, S.R.2
Gutierrez, A.U.3
Riba, L.4
Gamboa-Cardiel, S.5
Hinojosa, M.C.6
Altamirano-Bustamante, N.7
Calzada-Leon, R.8
Robles-Valdes, C.9
Mendoza-Morfin, F.10
Tusie-Luna, M.T.11
-
24
-
-
0029034192
-
Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene
-
Wilson RC, Wei J, Cheng KC, Mercado AB, New MI: Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin. Endocrinol Metab 1995; 80: 1635-1640.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1635-1640
-
-
Wilson, R.C.1
Wei, J.2
Cheng, K.C.3
Mercado, A.B.4
New, M.I.5
-
25
-
-
0141704648
-
Sequence specific PCR approach for CYP21 gene conversion detection in patients with P30L mutation and severe form of congenital adrenal hyperplasia
-
September 13-17
-
Stopar-Obreza, M, Dolzan, V, Zerjav-Tansek, M, Breskvar, K, Krzisnik, C, Battelino, T: Sequence specific PCR approach for CYP21 gene conversion detection in patients with P30L mutation and severe form of congenital adrenal hyperplasia. Proceedings of the 2nd Congress of Genetic Society Slovenia, September 13-17, 2000; 142-143
-
(2000)
Proceedings of the 2nd Congress of Genetic Society Slovenia
, pp. 142-143
-
-
Stopar-Obreza, M.1
Dolzan, V.2
Zerjav-Tansek, M.3
Breskvar, K.4
Krzisnik, C.5
Battelino, T.6
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