-
1
-
-
58849091731
-
Is there a significant trend in prevalence of consanguineous marriage in Tehran a review of three generations
-
Akrami SM, Montazeri V, Shomali SR, et al. (2009) Is there a significant trend in prevalence of consanguineous marriage in Tehran? A review of three generations. J Genet Couns 18:82-86.
-
(2009)
J. Genet. Couns.
, vol.18
, pp. 82-86
-
-
Akrami, S.M.1
Montazeri, V.2
Shomali, S.R.3
-
2
-
-
0010430717
-
Mapping of steroid 21-Hydroxylase genes adjacent to complement component c4 genes in hla the major histocompatibility complex in man
-
USA
-
Carroll MC, Campbell RD, Porter RR (1985) Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. Proc Natl Acad Sci USA 82:521-525.
-
(1985)
Proc. Natl. Acad. Sci.
, vol.82
, pp. 521-525
-
-
Carroll, M.C.1
Campbell, R.D.2
Porter, R.R.3
-
3
-
-
0029101053
-
Difference in transcriptional activity of two homologous CYP21A genes
-
Chang SF, Chung BC (1995) Difference in transcriptional activity of two homologous CYP21A genes. Mol Endocrinol 9:1330-1336.
-
(1995)
Mol. Endocrinol.
, vol.9
, pp. 1330-1336
-
-
Chang, S.F.1
Chung, B.C.2
-
4
-
-
66249120367
-
Human splicing finder: An online bioinformatics tool to predict splicing signals
-
Desmet FO, Hamroun D, Lalande M, et al. (2009) Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67.
-
(2009)
Nucleic. Acids Res.
, vol.37
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
-
5
-
-
53949094126
-
Genetic counseling in southern Iran: Consanguinity and reason for referral
-
Fathzadeh M, Babaie Bigi MA, Bazrgar M, et al. (2008) Genetic counseling in southern Iran: consanguinity and reason for referral. J Genet Couns 17:472-479.
-
(2008)
J. Genet. Couns.
, vol.17
, pp. 472-479
-
-
Fathzadeh, M.1
Babaie Bigi, M.A.2
Bazrgar, M.3
-
6
-
-
34547228303
-
Congenital adrenal hyperplasia: Focus on the molecular basis of 21-hydroxylase deficiency
-
Goncalves J, Friaes A, Moura L (2007) Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency. Expert Rev Mol Med 9:1-23.
-
(2007)
Expert. Rev. Mol. Med.
, vol.9
, pp. 1-23
-
-
Goncalves, J.1
Friaes, A.2
Moura, L.3
-
7
-
-
55549148729
-
HLA typing of patients with 21-Hydroxylase deficiency in Iranian children with congenital adrenal hyperplasia
-
Haghi Ashtiani MT, Rabbani A, Mostafavi F, et al. (2008) HLA typing of patients with 21-hydroxylase deficiency in Iranian children with congenital adrenal hyperplasia. Biochem Genet 46:712-719.
-
(2008)
Biochem. Genet.
, vol.46
, pp. 712-719
-
-
Haghi Ashtiani, M.T.1
Rabbani, A.2
Mostafavi, F.3
-
8
-
-
0025941723
-
Haplotypes of the steroid 21-Hydroxylase gene region encoding mild steroid 21-Hydroxylase deficiency
-
USA
-
Haglund-Stengler B, Martin Ritzen E, Gustafsson J, Luthman H (1991) Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 88:8352-8356.
-
(1991)
Proc. Natl. Acad. Sci.
, vol.88
, pp. 8352-8356
-
-
Haglund-Stengler, B.1
Martin Ritzen, E.2
Gustafsson, J.3
Luthman, H.4
-
9
-
-
0042901202
-
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
-
USA
-
Higashi Y, Yoshioka H, Yamane M, et al. (1986) Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA 83:2841-2845.
-
(1986)
Proc. Natl. Acad. Sci.
, vol.83
, pp. 2841-2845
-
-
Higashi, Y.1
Yoshioka, H.2
Yamane, M.3
-
10
-
-
85063962590
-
Defects of adrenal steroidogenesis
-
Wajnjajch MP New MI eds Saunders Company-Elsevier Boston MA
-
Jameson JL, De Groot LJ (2010) Defects of adrenal steroidogenesis. In: Wajnjajch MP, New MI (eds) Endocrinology: Adult and Pediatric. Saunders Company-Elsevier, Boston, MA, pp 1897-1920.
-
(2010)
Endocrinology: Adult and Pediatric
, pp. 1897-1920
-
-
Jameson, J.L.1
De Groot, L.J.2
-
11
-
-
0032920031
-
Single-nucleotide polymorphisms in intron 2 of cyp21p: Evidence for a higher rate of mutation at cpg dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia
-
Jiddou RR, Wei WL, Sane KS, Killeen AA (1999) Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia. Clin Chem 45: 625-629.
-
(1999)
Clin. Chem.
, vol.45
, pp. 625-629
-
-
Jiddou, R.R.1
Wei, W.L.2
Sane, K.S.3
Killeen, A.A.4
-
12
-
-
0842269752
-
Molecular genetic analysis of tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novelmutations and high prevalence of q318x mutation
-
KharratM,Tardy V,M'RadR, et al. (2004)Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novelmutations and high prevalence of Q318X mutation. J Clin Endocrinol Metab 89:368-374.
-
(2004)
J. Clin. Endocrinol. Metab.
, vol.89
, pp. 368-374
-
-
Kharrat, M.1
Tardy, V.M.2
Rad, R.3
-
13
-
-
0036821001
-
Duplication of the cyp21a2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes
-
Koppens PF, Hoogenboezem T, Degenhart HJ (2002) Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes. Hum Genet 111:405-410.
-
(2002)
Hum. Genet.
, vol.111
, pp. 405-410
-
-
Koppens, P.F.1
Hoogenboezem, T.2
Degenhart, H.J.3
-
14
-
-
0026442325
-
Family studies of the steroid 21-hydroxylase and complement c4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in the netherlands
-
Koppens PF, Hoogenboezem T, Halley DJ, et al. (1992) Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands. Eur J Pediatr 151:885-892.
-
(1992)
Eur. J. Pediatr.
, vol.151
, pp. 885-892
-
-
Koppens, P.F.1
Hoogenboezem, T.2
Halley, D.J.3
-
15
-
-
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, et al. (2000) Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 85:1059-1065.
-
(2000)
J. Clin. Endocrinol. Metab.
, vol.85
, pp. 1059-1065
-
-
Krone, N.1
Braun, A.2
Roscher, A.A.3
-
16
-
-
0028862514
-
Constitutive human steroid 21-hydroxylase promoter gene and pseudogene activity in steroidogenic and nonsteroidogenic cells with the luciferase gene as a reporter
-
Kyllo JH, Collins MM, Donohoue PA (1995) Constitutive human steroid 21-hydroxylase promoter gene and pseudogene activity in steroidogenic and nonsteroidogenic cells with the luciferase gene as a reporter. Endocr Res 21:777-791.
-
(1995)
Endocr. Res.
, vol.21
, pp. 777-791
-
-
Kyllo, J.H.1
Collins, M.M.2
Donohoue, P.A.3
-
17
-
-
0034486847
-
How a patient homozygous for a 30-Kb deletion of the c4-Cyp 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency
-
L'Allemand D, Tardy V, Gruters A, et al. (2000) How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency. J Clin Endocrinol Metab 85:4562-4567.
-
(2000)
J. Clin. Endocrinol. Metab.
, vol.85
, pp. 4562-4567
-
-
L'Allemand, D.1
Tardy, V.2
Gruters, A.3
-
18
-
-
1642545469
-
The chimeric cyp21p/cyp21 gene and 21- Hydroxylase deficiency
-
Lee HH (2004) The chimeric CYP21P/CYP21 gene and 21- hydroxylase deficiency. J Hum Genet 49:65-72.
-
(2004)
J. Hum. Genet.
, vol.49
, pp. 65-72
-
-
Lee, H.H.1
-
19
-
-
0034113650
-
Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-Hydroxylase deficiency
-
Lee HH, Chang JG, Tsai CH, et al. (2000) Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency. Clin Chem 46:606-611.
-
(2000)
Clin. Chem.
, vol.46
, pp. 606-611
-
-
Lee, H.H.1
Chang, J.G.2
Tsai, C.H.3
-
20
-
-
0038579167
-
Mutation of IVS2-12A/ C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency
-
Lee HH, Chang SF, Tsai FJ, et al. (2003) Mutation of IVS2-12A/ C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 88:2726-2729.
-
(2003)
J. Clin. Endocrinol. Metab.
, vol.88
, pp. 2726-2729
-
-
Lee, H.H.1
Chang, S.F.2
Tsai, F.J.3
-
21
-
-
0031658966
-
Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese
-
Lee HH, Chao HT, Lee YJ, et al. (1998) Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese. Hum Genet 103:304-310.
-
(1998)
Hum. Genet.
, vol.103
, pp. 304-310
-
-
Lee, H.H.1
Chao, H.T.2
Lee, Y.J.3
-
22
-
-
1842665123
-
PCR-based detection of the cyp21 deletion and tnxa/tnxb hybrid in the rccx module
-
Lee HH, Lee YJ, Lin CY (2004) PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module. Genomics 83:944-950.
-
(2004)
Genomics
, vol.83
, pp. 944-950
-
-
Lee, H.H.1
Lee, Y.J.2
Lin, C.Y.3
-
23
-
-
0018141091
-
Genetic mapping of the 21-hydroxylase-deficiency gene within the hla linkage group
-
Levine LS, Zachmann M, New MI, et al. (1978) Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group. N Engl J Med 299:911-915.
-
(1978)
N. Engl. J. Med.
, vol.299
, pp. 911-915
-
-
Levine, L.S.1
Zachmann, M.2
New, M.I.3
-
24
-
-
0031901932
-
High variability of cyp21 gene rearrangements in spanish patients with classic form of congenital adrenal hyperplasia
-
Lobato MN, Aledo R, Meseguer A (1998) High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia. Hum Hered 48:216-225.
-
(1998)
Hum. Hered.
, vol.48
, pp. 216-225
-
-
Lobato, M.N.1
Aledo, R.2
Meseguer, A.3
-
25
-
-
70350502856
-
Statistical study of 35delg mutation of gjb2 gene: A meta-analysis of carrier frequency
-
Mahdieh N, Rabbani B (2009) Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency. Int J Audiol 48:363-370.
-
(2009)
Int. J. Audiol.
, vol.48
, pp. 363-370
-
-
Mahdieh, N.1
Rabbani, B.2
-
26
-
-
0024284028
-
A simple salting out procedure for extracting dna from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
-
(1988)
Nucleic. Acids. Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
27
-
-
79959278236
-
Report of 285 patients with congenital adrenal hyperplasia and evaluation of approximate prevalence of the disease in Iran
-
Moayeri H, Rabbani A (1999) Report of 285 patients with congenital adrenal hyperplasia and evaluation of approximate prevalence of the disease in Iran. Acta Med Iran 37:102-105.
-
(1999)
Acta. Med. Iran
, vol.37
, pp. 102-105
-
-
Moayeri, H.1
Rabbani, A.2
-
28
-
-
1342331347
-
Consanguinity genetic disorders and malformations in the Iranian population
-
Mokhtari R, Bagga A (2003) Consanguinity, genetic disorders and malformations in the Iranian population. Acta Biol Szeged 47:47-50.
-
(2003)
Acta. Biol. Szeged
, vol.47
, pp. 47-50
-
-
Mokhtari, R.1
Bagga, A.2
-
29
-
-
33751529747
-
Extensive clinical experience: Nonclassical 21- Hydroxylase deficiency
-
New MI (2006) Extensive clinical experience: nonclassical 21- hydroxylase deficiency. J Clin Endocrinol Metab 91:4205-4214.
-
(2006)
J. Clin. Endocrinol. Metab.
, vol.91
, pp. 4205-4214
-
-
New, M.I.1
-
30
-
-
0033607164
-
Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess
-
USA
-
New MI, Wilson RC (1999) Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA 96:12790-12797.
-
(1999)
Proc. Natl. Acad. Sci.
, vol.96
, pp. 12790-12797
-
-
New, M.I.1
Wilson, R.C.2
-
31
-
-
0023903807
-
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-Hydroxylase deficiency
-
Pang SY, Wallace MA, Hofman L, et al. (1988) Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81:866-874.
-
(1988)
Pediatrics
, vol.81
, pp. 866-874
-
-
Pang, S.Y.1
Wallace, M.A.2
Hofman, L.3
-
32
-
-
47749118384
-
High frequency of copy number variations and sequence variants at cyp21a2 locus: Implication for the genetic diagnosis of 21- hydroxylase deficiency
-
Parajes S, Quinteiro C, Dominguez F, Loidi L (2008) High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21- hydroxylase deficiency. PLoS One 3:e2138.
-
(2008)
PLoS One
, vol.3
-
-
Parajes, S.1
Quinteiro, C.2
Dominguez, F.3
Loidi, L.4
-
33
-
-
78651044643
-
The syndrome of male pseudohermaphrodism in congenital adrenocortical hyperplasia without overproduction of androgens adrenal male pseudohermaphrodism
-
Prader A, Gurtner HP (1955) [The syndrome of male pseudohermaphrodism in congenital adrenocortical hyperplasia without overproduction of androgens (adrenal male pseudohermaphrodism)]. Helv Paediatr Acta 10:397-412.
-
(1955)
Helv. Paediatr. Acta.
, vol.10
, pp. 397-412
-
-
Prader, A.1
Gurtner, H.P.2
-
34
-
-
46549088104
-
Characterization of minor bands of str amplification reaction of fviii gene by pcr cloning
-
Rabbani B, Khanahmad H, Bagheri R, et al. (2008) Characterization of minor bands of STR amplification reaction of FVIII gene by PCR cloning. Clin Chim Acta 394:114-115.
-
(2008)
Clin. Chim. Acta.
, vol.394
, pp. 114-115
-
-
Rabbani, B.1
Khanahmad, H.2
Bagheri, R.3
-
35
-
-
38349050416
-
The frequency of eight common point mutations in cyp21 gene in iranian patients with congenital adrenal hyperplasia
-
Ramazani A, Kahrizi K, Razaghiazar M, et al. (2008) The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia. Iran Biomed J 12:49-53.
-
(2008)
Iran Biomed. J.
, vol.12
, pp. 49-53
-
-
Ramazani, A.1
Kahrizi, K.2
Razaghiazar, M.3
-
38
-
-
0026641101
-
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-Hydroxylase deficiency
-
Speiser PW, Dupont J, Zhu D, et al. (1992) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90:584-595.
-
(1992)
J. Clin. Invest.
, vol.90
, pp. 584-595
-
-
Speiser, P.W.1
Dupont, J.2
Zhu, D.3
-
39
-
-
0035028353
-
Newborn screening for congenital adrenal hyperplasia
-
Therrell BL (2001) Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin N Am 30:15-30.
-
(2001)
Endocrinol. Metab. Clin. N Am.
, vol.30
, pp. 15-30
-
-
Therrell, B.L.1
-
40
-
-
9144256791
-
A novel semiquantitative polymerase chain reaction/enzyme digestion-Based method for detection of large scale deletions/conversions of the cyp21 gene and mutation screening in turkish families with 21-hydroxylase deficiency
-
Tukel T, Uyguner O, Wei JQ, et al. (2003) A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency. J Clin Endocrinol Metab 88:5893-5897.
-
(2003)
J. Clin. Endocrinol. Metab.
, vol.88
, pp. 5893-5897
-
-
Tukel, T.1
Uyguner, O.2
Wei, J.Q.3
-
41
-
-
18744364711
-
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, et al. (2005) Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran. Horm Res 63:119-124.
-
(2005)
Horm. Res.
, vol.63
, pp. 119-124
-
-
Vakili, R.1
Baradaran-Heravi, A.2
Barid-Fatehi, B.3
-
42
-
-
0036206069
-
Guidelines for human gene nomenclature
-
Wain HM, Bruford EA, Lovering RC, et al. (2002) Guidelines for human gene nomenclature. Genomics 79:464-470.
-
(2002)
Genomics
, vol.79
, pp. 464-470
-
-
Wain, H.M.1
Bruford, E.A.2
Lovering, R.C.3
-
43
-
-
0028235314
-
Characterization of mutations on the rare duplicated c4/cyp21 haplotype in steroid 21-hydroxylase deficiency
-
Wedell A, Stengler B, Luthman H (1994) Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency. Hum Genet 94: 50-54.
-
(1994)
Hum. Genet.
, vol.94
, pp. 50-54
-
-
Wedell, A.1
Stengler, B.2
Luthman, H.3
-
45
-
-
0034454269
-
Congenital adrenal hyperplasia due to 21-Hydroxylase deficiency
-
White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245-291.
-
(2000)
Endocr. Rev.
, vol.21
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
46
-
-
0033621465
-
Transcriptional regulatory elements of the human gene for cytochrome p450c21 steroid 21-hydroxylase lie within intron 35 of the linked c4b gene
-
Wijesuriya SD, Zhang G, Dardis A, Miller WL (1999) Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene. J Biol Chem 274:38097-38106.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 38097-38106
-
-
Wijesuriya, S.D.1
Zhang, G.2
Dardis, A.3
Miller, W.L.4
-
48
-
-
0029034192
-
Rapid deoxyribonucleic acid analysis by allele-Specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene
-
Wilson RC, Wei JQ, Cheng KC, et al. (1995b) Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab 80:1635-1640.
-
(1995)
J. Clin. Endocrinol. Metab.
, vol.80
, pp. 1635-1640
-
-
Wilson, R.C.1
Wei, J.Q.2
Cheng, K.C.3
-
49
-
-
58549084981
-
Variations in the promoter of cyp21a2 gene identified in a chinese patient with simple virilizing form of 21-hydroxylase deficiency
-
Zhang HJ, Yang J, Zhang MN, et al. (2009) Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency. Clin Endocrinol (Oxf) 70:201-207.
-
(2009)
Clin. Endocrinol. Oxf.
, vol.70
, pp. 201-207
-
-
Zhang, H.J.1
Yang, J.2
Zhang, M.N.3
|