126 related articles for article (PubMed ID: 21532487)
21. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
Leccese A; Longo V; Dimatteo C; De Girolamo G; Trunzo R; D'Andrea G; Bafunno V; Margaglione M; Santacroce R
Clin Chim Acta; 2014 Nov; 437():48-51. PubMed ID: 25025300
[TBL] [Abstract][Full Text] [Related]
22. Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
Forouzanfar K; Seifi M; Hashemi-Gorji F; Karimi N; Estiar MA; Karimoei M; Sakhinia E; Karimipour M; Ghergherehchi R
Cell Mol Biol (Noisy-le-grand); 2015 Aug; 61(4):51-5. PubMed ID: 26278268
[TBL] [Abstract][Full Text] [Related]
23. A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
Doleschall M; Luczay A; Koncz K; Hadzsiev K; Erhardt É; Szilágyi Á; Doleschall Z; Németh K; Török D; Prohászka Z; Gereben B; Fekete G; Gláz E; Igaz P; Korbonits M; Tóth M; Rácz K; Patócs A
Eur J Hum Genet; 2017 Jun; 25(6):702-710. PubMed ID: 28401898
[TBL] [Abstract][Full Text] [Related]
24. A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.
Parajes S; Quinterio C; Domínguez F; Loidi L
Clin Chem; 2007 Sep; 53(9):1577-84. PubMed ID: 17634211
[TBL] [Abstract][Full Text] [Related]
25. Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
Baumgartner-Parzer SM; Fischer G; Vierhapper H
J Clin Endocrinol Metab; 2007 Mar; 92(3):1164-7. PubMed ID: 17164306
[TBL] [Abstract][Full Text] [Related]
26. Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives.
Anastasovska V; Kocova M
Prilozi; 2010; 31(2):71-82. PubMed ID: 21258279
[TBL] [Abstract][Full Text] [Related]
27. 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; Domínguez F; Loidi L
PLoS One; 2008 May; 3(5):e2138. PubMed ID: 18478071
[TBL] [Abstract][Full Text] [Related]
28. Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia.
Jang JH; Jin DK; Kim JH; Tan HK; Kim JW; Lee SY; Ki CS; Park HD
Ann Clin Lab Sci; 2011; 41(1):44-7. PubMed ID: 21325254
[TBL] [Abstract][Full Text] [Related]
29. High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.
Campos VC; Pereira RM; Torres N; Castro Md; Aguiar-Oliveira MH
Arq Bras Endocrinol Metabol; 2009 Feb; 53(1):40-6. PubMed ID: 19347184
[TBL] [Abstract][Full Text] [Related]
30. Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia.
Cantürk C; Baade U; Salazar R; Storm N; Pörtner R; Höppner W
Clin Chem; 2011 Mar; 57(3):511-7. PubMed ID: 21148302
[TBL] [Abstract][Full Text] [Related]
31. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
Concolino P; Mello E; Toscano V; Ameglio F; Zuppi C; Capoluongo E
Clin Chim Acta; 2009 Apr; 402(1-2):164-70. PubMed ID: 19263525
[TBL] [Abstract][Full Text] [Related]
32. Analysis of the CYP21A1P pseudogene: indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes.
Tsai LP; Cheng CF; Chuang SH; Lee HH
Anal Biochem; 2011 Jun; 413(2):133-41. PubMed ID: 21324303
[TBL] [Abstract][Full Text] [Related]
33. High carrier frequency of 21-hydroxylase deficiency in Cyprus.
Phedonos AA; Shammas C; Skordis N; Kyriakides TC; Neocleous V; Phylactou LA
Clin Genet; 2013 Dec; 84(6):585-8. PubMed ID: 23600966
[TBL] [Abstract][Full Text] [Related]
34. Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia.
Tsai LP; Cheng CF; Hsieh JP; Teng MS; Lee HH
Clin Chim Acta; 2009 Dec; 410(1-2):48-53. PubMed ID: 19778530
[TBL] [Abstract][Full Text] [Related]
35. Multiplex ligation-dependent probe amplification analysis is useful for diagnosing congenital adrenal hyperplasia but requires a deep knowledge of CYP21A2 genetics.
Concolino P; Mello E; Minucci A; Zuppi C; Capoluongo E
Clin Chem; 2011 Jul; 57(7):1079-80. PubMed ID: 21507910
[No Abstract] [Full Text] [Related]
36. Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P.
Lee HH; Tsai FJ; Lee YJ; Yang YC
Mol Genet Metab; 2006 Aug; 88(4):372-7. PubMed ID: 16684614
[TBL] [Abstract][Full Text] [Related]
37. Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
Chang SF; Lee HH
Genet Test Mol Biomarkers; 2011; 15(1-2):35-42. PubMed ID: 21117955
[TBL] [Abstract][Full Text] [Related]
38. Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.
Skordis N; Kyriakou A; Tardy V; Ioannou YS; Varvaresou A; Dracopoulou-Vabouli M; Patsalis PC; Shammas C; Neocleous V; Phylactou LA
Horm Res Paediatr; 2011; 75(3):180-6. PubMed ID: 20838032
[TBL] [Abstract][Full Text] [Related]
39. [A molecular method of diagnosis of congenital adrenal hyperplasia].
Israel S; Brautbar C
Harefuah; 2000 Dec; 139(11-12):429-33, 494. PubMed ID: 11341187
[TBL] [Abstract][Full Text] [Related]
40. [Molecular and clinical study on homozygous or heterozygous large deletion of
Gao YJ; Yu BQ; Lu L; Tong AL; Chen S; Mao JF; Wang X; Wu XY; Nie M
Zhonghua Yi Xue Za Zhi; 2019 Mar; 99(12):912-917. PubMed ID: 30917440
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]