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Items: 1 to 20 of 104

1.

A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes.

Rabbani B, Mahdieh N, Sayarifar F, Ashtiani MT, New M, Parsa A, Akbari MT, Rabbani A.

Clin Lab. 2012;58(9-10):1063-6.

PMID:
23163125
2.

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.

3.

A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.

Concolino P, Minucci A, Mello E, Zuppi C, Capoluongo E.

Clin Chem Lab Med. 2009;47(7):824-5. doi: 10.1515/CCLM.2009.195.

PMID:
19499972
4.

CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.

Concolino P, Mello E, Zuppi C, Toscano V, Capoluongo E.

Diagn Mol Pathol. 2013 Mar;22(1):48-51. doi: 10.1097/PDM.0b013e31825df903.

PMID:
23370425
5.

Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.

Larizza D, Cuccia M, Martinetti M, Maghnie M, Dondi E, Salvaneschi L, Severi F.

Clin Endocrinol (Oxf). 1994 Jan;40(1):39-45.

PMID:
8306479
6.

Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.

Baradaran-Heravi A, Vakili R, Robins T, Carlsson J, Ghaemi N, A'rabi A, Abbaszadegan MR.

Clin Endocrinol (Oxf). 2007 Sep;67(3):335-41. Epub 2007 Jun 15.

PMID:
17573904
7.

Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.

Maciel-Guerra AT, Guerra G Jr, Marini SH, Matias Baptista MT, Marques-de-Faria AP.

Clin Genet. 1997 May;51(5):351-3.

PMID:
9212186
8.

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.

9.

Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.

Torres N, Mello MP, Germano CM, Elias LL, Moreira AC, Castro M.

Braz J Med Biol Res. 2003 Oct;36(10):1311-8. Epub 2003 Sep 16.

10.

Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.

Ma D, Chen Y, Sun Y, Yang B, Cheng J, Huang M, Zhang J, Zhang J, Hu P, Lin Y, Jiang T, Xu Z.

Clin Biochem. 2014 Apr;47(6):455-63. doi: 10.1016/j.clinbiochem.2014.01.019. Epub 2014 Feb 3.

PMID:
24503005
11.

Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.

Choi JH, Jin HY, Lee BH, Ko JM, Lee JJ, Kim GH, Jung CW, Lee J, Yoo HW.

Exp Clin Endocrinol Diabetes. 2012 Jan;120(1):23-7. doi: 10.1055/s-0031-1287789. Epub 2011 Oct 21.

PMID:
22020670
12.

Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.

Neocleous V, Ioannou YS, Bartsota M, Costi C, Skordis N, Phylactou LA.

Clin Biochem. 2009 Sep;42(13-14):1363-7. doi: 10.1016/j.clinbiochem.2009.05.015. Epub 2009 Jun 6.

PMID:
19501079
13.

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 Fall;41(1):44-7.

PMID:
21325254
14.

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.

Concolino P, Mello E, Zuppi C, Capoluongo E.

Clin Chem Lab Med. 2010 Aug;48(8):1057-62. doi: 10.1515/CCLM.2010.239. Review.

PMID:
20482300
15.

A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.

Menabò S, Balsamo A, Baldazzi L, Barbaro M, Nicoletti A, Conti V, Pirazzoli P, Wedell A, Cicognani A.

J Endocrinol Invest. 2012 Mar;35(3):298-305. doi: 10.3275/7680. Epub 2011 Apr 26.

PMID:
21521936
16.

Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.

Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB.

Clin Chem. 2012 Feb;58(2):421-30. doi: 10.1373/clinchem.2011.174037. Epub 2011 Dec 7.

17.
18.

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.

Toraman B, Ökten A, Kalay E, Karagüzel G, Dinçer T, Açıkgöz EG, Karagüzel A.

Gene. 2013 Jan 15;513(1):202-8. doi: 10.1016/j.gene.2012.10.059. Epub 2012 Nov 7.

PMID:
23142378
19.

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. doi: 10.1159/000320040. Epub 2010 Sep 14.

PMID:
20838032
20.

Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.

Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A.

Clin Endocrinol (Oxf). 2011 Oct;75(4):427-35. doi: 10.1111/j.1365-2265.2011.04123.x.

PMID:
21609351

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