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Items: 1 to 20 of 87

1.

Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population.

Baumgartner-Parzer SM, Nowotny P, Heinze G, Waldhäusl W, Vierhapper H.

J Clin Endocrinol Metab. 2005 Feb;90(2):775-8. Epub 2004 Nov 30.

PMID:
15572419
2.

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. doi: 10.1111/cge.12153. Epub 2013 Apr 22.

PMID:
23600966
3.

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
4.

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, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T.

Eur J Endocrinol. 2005 Jul;153(1):99-106.

5.

Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia.

Marques CJ, Pignatelli D, Carvalho B, Barceló J, Almeida AC, Fernandes S, Witchel SF, Sousa M, Oliveira MJ, Freitas P, Fontoura M, Carvalho D, Barros A, Carvalho F.

Exp Clin Endocrinol Diabetes. 2010 Aug;118(8):505-12. doi: 10.1055/s-0029-1237363. Epub 2009 Oct 23.

PMID:
19856253
6.

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP.

J Clin Endocrinol Metab. 2011 Jan;96(1):E161-72. doi: 10.1210/jc.2010-0319. Epub 2010 Oct 6.

7.

Increased prevalence of heterozygous 21-OH germline mutations in patients with adrenal incidentalomas.

Baumgartner-Parzer SM, Pauschenwein S, Waldhäusl W, Pölzler K, Nowotny P, Vierhapper H.

Clin Endocrinol (Oxf). 2002 Jun;56(6):811-6.

PMID:
12072053
8.

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.

Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS, Carroll PV, Conway GS, Walker BR, MacDonald F, Ross RJ, Arlt W; United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)..

J Clin Endocrinol Metab. 2013 Feb;98(2):E346-54. doi: 10.1210/jc.2012-3343. Epub 2013 Jan 21.

9.

Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Chen W, Xu Z, Nishitani M, Van Ryzin C, McDonnell NB, Merke DP.

Hum Genet. 2012 Dec;131(12):1889-94. doi: 10.1007/s00439-012-1217-8. Epub 2012 Aug 12.

10.

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
11.

[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

Bachelot A, Touraine P.

Presse Med. 2014 Apr;43(4 Pt 1):428-37. doi: 10.1016/j.lpm.2013.10.006. Epub 2014 Mar 11. French.

PMID:
24630263
12.

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
13.

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
14.

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E.

J Clin Endocrinol Metab. 2005 Oct;90(10):5769-73. Epub 2005 Jul 26.

PMID:
16046588
15.

A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.

Mohamed S, El-Kholy S, Al-Juryyan N, Al-Nemri AM, Abu-Amero KK.

Saudi Med J. 2015 Jan;36(1):113-6. doi: 10.15537/smj.2015.1.9697.

16.

Non-functioning adrenal incidentalomas caused by 21-hydroxylase deficiency or carrier status?

Falhammar H.

Endocrine. 2014 Sep;47(1):308-14. doi: 10.1007/s12020-013-0162-1. Epub 2014 Jan 23.

PMID:
24452876
17.

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
18.

Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists.

Trakakis E, Loghis C, Kassanos D.

Obstet Gynecol Surv. 2009 Mar;64(3):177-89. doi: 10.1097/OGX.0b013e318193301b. Review.

PMID:
19228439
19.

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.

Barbat B, Bogyo A, Raux-Demay MC, Kuttenn F, Boué J, Simon-Bouy B, Serre JL, Mornet E.

Hum Mutat. 1995;5(2):126-30.

PMID:
7749410
20.

Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.

Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A.

Horm Res. 2000;53(2):77-82.

PMID:
10971093

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