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Items: 1 to 20 of 101

1.

Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.

Szabó JA, Szilágyi Á, Doleschall Z, Patócs A, Farkas H, Prohászka Z, Rácz K, Füst G, Doleschall M.

PLoS One. 2013 Nov 29;8(11):e81977. doi: 10.1371/journal.pone.0081977. eCollection 2013.

2.

Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.

Bánlaki Z, Szabó JA, Szilágyi Á, Patócs A, Prohászka Z, Füst G, Doleschall M.

Genome Biol Evol. 2013;5(1):98-112. doi: 10.1093/gbe/evs121.

3.

Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.

Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM.

J Clin Endocrinol Metab. 2009 Oct;94(10):3954-8. doi: 10.1210/jc.2009-0487. Epub 2009 Sep 22.

PMID:
19773403
4.

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. Epub 2006 Dec 12.

PMID:
17164306
5.

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.

Koppens PF, Hoogenboezem T, Degenhart HJ.

Hum Genet. 2002 Oct;111(4-5):405-10. Epub 2002 Sep 7.

PMID:
12384784
6.

Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.

Doleschall M, Szabó JA, Pázmándi J, Szilágyi Á, Koncz K, Farkas H, Tóth M, Igaz P, Gláz E, Prohászka Z, Korbonits M, Rácz K, Füst G, Patócs A.

PLoS One. 2014 Sep 11;9(9):e107244. doi: 10.1371/journal.pone.0107244. eCollection 2014.

7.

A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE Jr, Moreira AC, Antonini SR, de Castro M.

Gene. 2013 Sep 10;526(2):239-45. doi: 10.1016/j.gene.2013.03.082. Epub 2013 Apr 6.

8.

Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.

Manfras BJ, Swinyard M, Rudert WA, Ball EJ, Lee PA, Kühnl P, Trucco M, Böhm BO.

Hum Genet. 1993 Aug;92(1):33-9.

PMID:
8365724
9.

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 14;3(5):e2138. doi: 10.1371/journal.pone.0002138.

11.

Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.

Lekarev O, Tafuri K, Lane AH, Zhu G, Nakamoto JM, Buller-Burckle AM, Wilson TA, New MI.

J Perinatol. 2013 Jan;33(1):76-8. doi: 10.1038/jp.2012.5.

PMID:
23269230
12.

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.

Concolino P, Mello E, Minucci A, Giardina E, Zuppi C, Toscano V, Capoluongo E.

BMC Med Genet. 2009 Jul 22;10:72. doi: 10.1186/1471-2350-10-72.

14.

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

Coeli FB, Soardi FC, Bernardi RD, de Araújo M, Paulino LC, Lau IF, Petroli RJ, de Lemos-Marini SH, Baptista MT, Guerra-Júnior G, de-Mello MP.

BMC Med Genet. 2010 Jun 29;11:104. doi: 10.1186/1471-2350-11-104.

15.

Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.

Vrzalová Z, Hrubá Z, Hrabincová ES, Vrábelová S, Votava F, Koloušková S, Fajkusová L.

Eur J Med Genet. 2011 Mar-Apr;54(2):112-7. doi: 10.1016/j.ejmg.2010.10.005. Epub 2010 Oct 21.

PMID:
20970527
16.

Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.

Vrzalová Z, Hrubá Z, St'ahlová Hrabincová E, Pouchlá S, Votava F, Kolousková S, Fajkusová L.

Int J Mol Med. 2010 Oct;26(4):595-603.

PMID:
20818501
18.

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 15;413(2):133-41. doi: 10.1016/j.ab.2011.02.016. Epub 2011 Feb 13.

PMID:
21324303
19.

[From gene to disease: adrenogenital syndrome and the CYP21A2 gene].

Claahsen-van der Grinten HL, Hoefsloot LH.

Ned Tijdschr Geneeskd. 2007 May 26;151(21):1174-7. Review. Dutch.

PMID:
17557757
20.

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