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Items: 1 to 20 of 219

1.

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, Grüters A, Schnabel D, Krude H, Morel Y.

J Clin Endocrinol Metab. 2000 Dec;85(12):4562-7.

PMID:
11134109
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.
4.

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.

5.

Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.

Tajima T, Fujieda K, Nakae J, Toyoura T, Shimozawa K, Kusuda S, Goji K, Nagashima T, Cutler GB Jr.

J Clin Endocrinol Metab. 1997 Jul;82(7):2350-6.

PMID:
9215318
6.

Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.

Blanché H, Vexiau P, Clauin S, Le Gall I, Fiet J, Mornet E, Dausset J, Bellanné-Chantelot C.

Hum Genet. 1997 Nov;101(1):56-60.

PMID:
9385370
7.

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
8.

CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA.

J Clin Endocrinol Metab. 2003 Aug;88(8):3852-9.

PMID:
12915679
9.
10.

A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia.

Kharrat M, Tardy V, M'rad R, Maazoul F, Morel Y, Chaabouni H.

Diagn Mol Pathol. 2005 Dec;14(4):250-2.

PMID:
16319697
11.

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.

13.
15.

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
16.

H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency.

Lau IF, Soardi FC, Lemos-Marini SH, Guerra Jr G Jr, Baptista MT, De Mello MP.

J Clin Endocrinol Metab. 2001 Dec;86(12):5877-80.

PMID:
11739456
17.

Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency.

Krone N, Roscher AA, Schwarz HP, Braun A.

Clin Chem. 1998 Oct;44(10):2075-82.

18.

21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.

Jeske YW, McGown IN, Harris M, Bowling FG, Choong CS, Cowley DM, Cotterill AM.

J Pediatr Endocrinol Metab. 2009 Feb;22(2):127-41.

PMID:
19449670
19.

Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency.

Owerbach D, Sherman L, Ballard AL, Azziz R.

Mol Endocrinol. 1992 Aug;6(8):1211-5.

PMID:
1406699
20.

The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.

Lee HH.

J Hum Genet. 2004;49(2):65-72. Epub 2004 Jan 17. Review.

PMID:
14730433

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