-
1
-
-
0022219639
-
High frequency of nonclassical steroid 21-hydroxylase deficiency
-
Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985, 37: 650-67.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 650-667
-
-
Speiser, P.W.1
Dupont, B.2
Rubinstein, P.3
Piazza, A.4
Kastelan, A.5
New, M.I.6
-
2
-
-
33947592785
-
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
-
Wilson RC, Nimkarn 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
Nimkarn, S.2
Dumic, M.3
-
3
-
-
0020296241
-
Late-Onset Steroid 21- Hydroxylase Deficiency: A Variant of Classical Congenital Adrenal Hyperplasia
-
Kohn B, Levine LS, Pollack MS, et al. Late-Onset Steroid 21- Hydroxylase Deficiency: A Variant of Classical Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab 1982, 55: 817-27.
-
(1982)
J Clin Endocrinol Metab
, vol.55
, pp. 817-827
-
-
Kohn, B.1
Levine, L.S.2
Pollack, M.S.3
-
4
-
-
62449126738
-
Nonclassic adrenal hyperplasia
-
Speiser PW. Nonclassic adrenal hyperplasia. Rev Endocr Metab Disord 2009, 10: 77-82.
-
(2009)
Rev Endocr Metab Disord
, vol.10
, pp. 77-82
-
-
Speiser, P.W.1
-
5
-
-
0033597231
-
Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascinTNX (the RCCX module). A mechanism for gene deletions and disease associations
-
Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY. Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascinTNX (the RCCX module). A mechanism for gene deletions and disease associations. J Biol Chem 1999, 274: 12147-56.
-
(1999)
J Biol Chem
, vol.274
, pp. 12147-12156
-
-
Yang, Z.1
Mendoza, A.R.2
Welch, T.R.3
Zipf, W.B.4
Yu, C.Y.5
-
6
-
-
0042901202
-
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
-
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. Proc Natl Acad Sci U S A 1986, 83: 2841-5.
-
(1986)
Proc Natl Acad Sci U S A
, vol.83
, pp. 2841-2845
-
-
Higashi, Y.1
Yoshioka, H.2
Yamane, M.3
Gotoh, O.4
Fujii-Kuriyama, Y.5
-
8
-
-
0036738455
-
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect
-
Billerbeck AE, Mendonca BB, Pinto EM, Madureira G, Arnhold IJ, Bachega TA. Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect. J Clin Endocrinol Metab 2002, 87: 4314-7.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4314-4317
-
-
Billerbeck, A.E.1
Mendonca, B.B.2
Pinto, E.M.3
Madureira, G.4
Arnhold, I.J.5
Bachega, T.A.6
-
9
-
-
0035022439
-
CYP21 mutations and congenital adrenal hyperplasia
-
Lee HH. CYP21 mutations and congenital adrenal hyperplasia. Clin Genet 2001, 59: 293-301.
-
(2001)
Clin Genet
, vol.59
, pp. 293-301
-
-
Lee, H.H.1
-
10
-
-
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: 245-91.
-
(2000)
Endocr Rev
, vol.21
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
12
-
-
0035144892
-
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Deneux C, Tardy V, Dib A, et al. Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2001, 86: 207-13.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 207-213
-
-
Deneux, C.1
Tardy, V.2
Dib, A.3
-
13
-
-
66149126549
-
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members
-
Bidet M, Bellanné-Chantelot C, Galand-Portier MB, et al. Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. J Clin Endocrinol Metab 2009, 94: 1570-8.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1570-1578
-
-
Bidet, M.1
Bellanné-Chantelot, C.2
Galand-Portier, M.B.3
-
14
-
-
0028934494
-
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
-
Barbat B, Bogyo A, Raux-Demay MC, et al. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency. Hum Mutat 1995, 5: 126-30.
-
(1995)
Hum Mutat
, vol.5
, pp. 126-130
-
-
Barbat, B.1
Bogyo, A.2
Raux-Demay, M.C.3
-
15
-
-
0029858384
-
Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency
-
Carrera P, Bordone L, Azzani T, et al. Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency. Hum Genet 1996, 98: 662-5.
-
(1996)
Hum Genet
, vol.98
, pp. 662-665
-
-
Carrera, P.1
Bordone, L.2
Azzani, T.3
-
16
-
-
0032452471
-
Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency
-
Bachega TA, Billerbeck AE, Madureira G, et al. Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1998, 83: 4416-9.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 4416-4419
-
-
Bachega, T.A.1
Billerbeck, A.E.2
Madureira, G.3
-
17
-
-
0033799619
-
Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency
-
Weintrob N, Brautbar C, Pertzelan A, et al. Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency. Eur J Endocrinol 2000, 143: 397-403.
-
(2000)
Eur J Endocrinol
, vol.143
, pp. 397-403
-
-
Weintrob, N.1
Brautbar, C.2
Pertzelan, A.3
-
18
-
-
33646473251
-
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions
-
Friães A, Rêgo AT, Aragüés JM, et al. CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions. Mol Genet Metab 2006, 88: 58-65.
-
(2006)
Mol Genet Metab
, vol.88
, pp. 58-65
-
-
Friães, A.1
Rêgo, A.T.2
Aragüés, J.M.3
-
19
-
-
22744441059
-
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
-
20
-
-
18744420304
-
Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations
-
Kotaska K, Prusa R. Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations. Med Princ Pract 2003, 12: 243-7.
-
(2003)
Med Princ Pract
, vol.12
, pp. 243-247
-
-
Kotaska, K.1
Prusa, R.2
-
21
-
-
0042884459
-
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: Six novel mutations and a specific cluster of four mutations
-
Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and 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
Otten, B.J.4
Hermus, A.R.5
Sistermans, E.A.6
-
22
-
-
0042524563
-
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: A novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease
-
Dolzan V, Stopar-Obreza M, Zerjav-Tansek M, Breskvar K, Krzisnik C, Battelino T. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. Eur J Endocrinol 2003, 149: 137-44.
-
(2003)
Eur J Endocrinol
, vol.149
, pp. 137-144
-
-
Dolzan, V.1
Stopar-Obreza, M.2
Zerjav-Tansek, M.3
Breskvar, K.4
Krzisnik, C.5
Battelino, T.6
-
23
-
-
2442421781
-
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene 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 CYP21 gene 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
-
24
-
-
84882299078
-
Impact of molecular genetics on congenital adrenal hyperplasia management
-
Balsamo A, Baldazzi L, Menabò S, Cicognani A. Impact of molecular genetics on congenital adrenal hyperplasia management. Sex Dev 2010, 4: 233-48.
-
(2010)
Sex Dev
, vol.4
, pp. 233-248
-
-
Balsamo, A.1
Baldazzi, L.2
Menabò, S.3
Cicognani, A.4
-
25
-
-
0033846590
-
CYP21 analysis and phenotype/ genotype relationship in the screened population of the Italian Emilia-Romagna region
-
Balsamo A, Cacciari E, Baldazzi L, et al. CYP21 analysis and phenotype/ genotype relationship in the screened population of the Italian Emilia-Romagna region. Clin Endocrinol 2000, 53: 117-25.
-
(2000)
Clin Endocrinol
, vol.53
, pp. 117-125
-
-
Balsamo, A.1
Cacciari, E.2
Baldazzi, L.3
-
26
-
-
33748747485
-
A systematic analysis of disease-associated variants in the 3′ regulatory regions of human proteincoding genes II: The importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants
-
Chen J, Férec C, Cooper DN. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human proteincoding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants. Hum Genet 2006, 120: 301-33.
-
(2006)
Hum Genet
, vol.120
, pp. 301-333
-
-
Chen, J.1
Férec, C.2
Cooper, D.N.3
-
27
-
-
33644750115
-
miRBase: MicroRNA sequences, targets and gene nomenclature
-
Griffiths-Jones S, Grocock RJ, van Dongen S, Bateman A, Enright AJ. miRBase: microRNA sequences, targets and gene nomenclature. Nucleic Acids Res 2006, 34: D140-4.
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Griffiths-Jones, S.1
Grocock, R.J.2
Van Dongen, S.3
Bateman, A.4
Enright, A.J.5
-
28
-
-
14044251458
-
Human MicroRNA targets
-
John B, Enright AJ, Aravin A, Tuschl T, Sander C, Marks DS. Human MicroRNA targets. PLoS Biol 2004, 2: e363.
-
(2004)
PLoS Biol
, vol.2
-
-
John, B.1
Enright, A.J.2
Aravin, A.3
Tuschl, T.4
Sander, C.5
Marks, D.S.6
-
29
-
-
0346094457
-
Prediction of mammalian microRNA targets
-
Lewis BP, Shih IH, Jones-Rhoades MW, Bartel DP, Burge CB. Prediction of mammalian microRNA targets. Cell 2003, 115: 787-98.
-
(2003)
Cell
, vol.115
, pp. 787-798
-
-
Lewis, B.P.1
Shih, I.H.2
Jones-Rhoades, M.W.3
Bartel, D.P.4
Burge, C.B.5
-
30
-
-
20944450160
-
Combinatorial microRNA target predictions
-
Krek A, Grün D, Poy MN, et al. Combinatorial microRNA target predictions. Nat Genet 2005, 37: 495-500.
-
(2005)
Nat Genet
, vol.37
, pp. 495-500
-
-
Krek, A.1
Grün, D.2
Poy, M.N.3
-
31
-
-
2442672918
-
A combined computational- experimental approach predicts human microRNA targets
-
Kiriakidou M, Nelson PT, Kouranov A, et al. A combined computational- experimental approach predicts human microRNA targets. Genes Dev 2004, 18: 1165-78.
-
(2004)
Genes Dev
, vol.18
, pp. 1165-1178
-
-
Kiriakidou, M.1
Nelson, P.T.2
Kouranov, A.3
-
32
-
-
0030957748
-
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
-
Lajic S, Levo A, Nikoshkov A, Lundberg Y, Partanen J, Wedell A. A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction. Hum Genet 1997, 99: 704-9.
-
(1997)
Hum Genet
, vol.99
, pp. 704-709
-
-
Lajic, S.1
Levo, A.2
Nikoshkov, A.3
Lundberg, Y.4
Partanen, J.5
Wedell, A.6
-
33
-
-
0031023169
-
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency
-
Nikoshkov A, Lajic S, Holst M, Wedell A, Luthman H. Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 1997, 82: 194-9.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 194-199
-
-
Nikoshkov, A.1
Lajic, S.2
Holst, M.3
Wedell, A.4
Luthman, H.5
-
34
-
-
0036075282
-
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity
-
Giwercman YL, Nordenskjöld A, Ritzén EM, et al. An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity. J Clin Endocrinol Metab 2002, 87: 2623-8.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2623-2628
-
-
Giwercman, Y.L.1
Nordenskjöld, A.2
Ritzén, E.M.3
-
35
-
-
33845393018
-
Gene duplications in 21-hydroxylase deficiency: The importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis
-
Ezquieta B, Beneyto M, Muñoz-Pacheco R, et al. Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis. Prenat Diagn 2006, 26: 1172-8.
-
(2006)
Prenat Diagn
, vol.26
, pp. 1172-1178
-
-
Ezquieta, B.1
Beneyto, M.2
Muñoz-Pacheco, R.3
-
36
-
-
0036341785
-
Non-classical 21-hydroxylase deficiency in children: Association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations
-
Ezquieta B, Cueva E, Varela J, Oliver A, Fernández J, Jariego C. Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations. Acta Paediatr 2002, 91: 892-8.
-
(2002)
Acta Paediatr
, vol.91
, pp. 892-898
-
-
Ezquieta, B.1
Cueva, E.2
Varela, J.3
Oliver, A.4
Fernández, J.5
Jariego, C.6
-
37
-
-
0034129253
-
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Bachega TA, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB. Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol 2000, 52: 601-7.
-
(2000)
Clin Endocrinol
, vol.52
, pp. 601-607
-
-
Bachega, T.A.1
Billerbeck, A.E.2
Marcondes, J.A.3
Madureira, G.4
Arnhold, I.J.5
Mendonca, B.B.6
-
38
-
-
33745728414
-
A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: General principles and overview
-
Chen J, Férec C, Cooper D. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet 2006, 120: 1-21.
-
(2006)
Hum Genet
, vol.120
, pp. 1-21
-
-
Chen, J.1
Férec, C.2
Cooper, D.3
-
39
-
-
0033119454
-
mRNAs have greater negative folding free energies than shuffled or codon choice randomized sequences
-
Seffens W, Digby D. mRNAs have greater negative folding free energies than shuffled or codon choice randomized sequences. Nucleic Acids Res 1999, 27: 1578-84.
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 1578-1584
-
-
Seffens, W.1
Digby, D.2
-
40
-
-
0036037061
-
The beta-globin C → G mutation at 6 bp 3′ to the termination codon causes beta-thalassaemia by decreasing the mRNA level
-
Sgourou A, Papachatzopoulou A, Psiouri L, et al. The beta-globin C → G mutation at 6 bp 3′ to the termination codon causes beta-thalassaemia by decreasing the mRNA level. Br J Haematol 2002, 118: 671-6.
-
(2002)
Br J Haematol
, vol.118
, pp. 671-676
-
-
Sgourou, A.1
Papachatzopoulou, A.2
Psiouri, L.3
-
41
-
-
33646841046
-
Hyperandrogenism in carriers of CYP21 mutations: The role of genotype
-
Oxf
-
Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y. Hyperandrogenism in carriers of CYP21 mutations: the role of genotype. Clin Endocrinol (Oxf) 2006, 64: 645-51.
-
(2006)
Clin Endocrinol
, vol.64
, pp. 645-651
-
-
Admoni, O.1
Israel, S.2
Lavi, I.3
Gur, M.4
Tenenbaum-Rakover, Y.5
-
42
-
-
0033799619
-
Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency
-
Weintrob N, Brautbar C, Pertzelan A, et al. Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency. Eur J Endocrinol 2000, 143: 397-403.
-
(2000)
Eur J Endocrinol
, vol.143
, pp. 397-403
-
-
Weintrob, N.1
Brautbar, C.2
Pertzelan, A.3
-
43
-
-
0032053606
-
Identification of heterozygotic carriers of 21-hydroxylase deficiency: Sensitivity of ACTH stimulation tests
-
Witchel SF, Lee PA. Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests. Am J Med Genet 1998, 76: 337-42.
-
(1998)
Am J Med Genet
, vol.76
, pp. 337-342
-
-
Witchel, S.F.1
Lee, P.A.2
-
44
-
-
33751529747
-
Extensive clinical experience: Nonclassical 21-hydroxylase deficiency
-
New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006, 91: 4205-14.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4205-4214
-
-
New, M.I.1
|