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Items: 1 to 20 of 132

1.

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
2.

Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.

Tajima T, Fujieda K, Nakae J, Mikami A, Cutler GB Jr.

Endocr J. 1998 Aug;45(4):493-7.

3.

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
4.

Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan.

Shinagawa T, Horikawa R, Isojima T, Naiki Y, Tanaka T, Katsumata N.

Endocr J. 2007 Dec;54(6):1021-5. Epub 2007 Nov 30.

5.

Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.

Dain LB, Buzzalino ND, Oneto A, Belli S, Stivel M, Pasqualini T, Minutolo C, Charreau EH, Alba LG.

Clin Endocrinol (Oxf). 2002 Feb;56(2):239-45.

PMID:
11874416
6.

Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.

Rumsby G, Avey CJ, Conway GS, Honour JW.

Clin Endocrinol (Oxf). 1998 Jun;48(6):707-11.

PMID:
9713558
7.

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
9.

A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.

Kapelari K, Ghanaati Z, Wollmann H, Ventz M, Ranke MB, Kofler R, Peters H.

Hum Mutat. 1999;13(6):505.

PMID:
10408786
10.

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.

Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.

J Clin Res Pediatr Endocrinol. 2009;1(3):116-28. doi: 10.4008/jcrpe.v1i3.49. Epub 2009 Feb 2.

11.

Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.

Pasqualini T, Alonso G, Tomasini R, Galich AM, Buzzalino N, Fernandez C, Minutolo C, Alba L, Dain L.

Medicina (B Aires). 2007;67(3):253-61.

PMID:
17628913
12.

Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.

Bachega TA, Brenlha EM, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB.

J Clin Endocrinol Metab. 2002 Feb;87(2):786-90.

PMID:
11836321
13.

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
14.

Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.

Vakili R, Baradaran-Heravi A, Barid-Fatehi B, Gholamin M, Ghaemi N, Abbaszadegan MR.

Horm Res. 2005;63(3):119-24. Epub 2005 Mar 17.

PMID:
15775714
15.

Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants.

Nordenström A, Wedell A, Hagenfeldt L, Marcus C, Larsson A.

Pediatrics. 2001 Oct;108(4):E68.

PMID:
11581476
16.

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.

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

J Clin Endocrinol Metab. 2000 Mar;85(3):1059-65.

PMID:
10720040
17.

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.

18.

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.

19.

Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.

Patócs A, Tóth M, Barta C, Sasvári-Székely M, Varga I, Szücs N, Jakab C, Gláz E, Rácz K.

Eur J Endocrinol. 2002 Sep;147(3):349-55.

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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