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Results: 1 to 20 of 106

1.

Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB.

J Clin Endocrinol Metab. 1996 Nov;81(11):4081-8.

PMID:
8923864
[PubMed - indexed for MEDLINE]
2.

Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.

Witchel SS, Lee PA, Trucco M.

Am J Med Genet. 1996 Jan 2;61(1):2-9.

PMID:
8741909
[PubMed - indexed for MEDLINE]
3.

CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.

Witchel SF, Smith R, Crivellaro CE, Della Manna T, Dichtchekenian V, Setian N, Damiani D.

Hum Genet. 2000 Apr;106(4):414-9.

PMID:
10830908
[PubMed - indexed for MEDLINE]
4.

[CYP21 gene point mutations study in 21-hydroxylase deficiency patients].

Liao XY, Zhang YF, Gu XF.

Zhonghua Er Ke Za Zhi. 2003 Sep;41(9):670-4. Chinese.

PMID:
14733808
[PubMed - indexed for MEDLINE]
5.

An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.

Lajic S, Wedell A.

Hum Genet. 1996 Aug;98(2):182-4.

PMID:
8698338
[PubMed - indexed for MEDLINE]
6.

Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis.

Witchel SF, Nayak S, Suda-Hartman M, Lee PA.

J Pediatr. 1997 Aug;131(2):328-31.

PMID:
9290628
[PubMed - indexed for MEDLINE]
7.

Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance.

Chin D, Speiser PW, Imperato-McGinley J, Dixit N, Uli N, David R, Oberfield SE.

J Clin Endocrinol Metab. 1998 Jun;83(6):1940-5.

PMID:
9626123
[PubMed - indexed for MEDLINE]
8.

Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese.

Lee HH, Chao HT, Lee YJ, Shu SG, Chao MC, Kuo JM, Chung BC.

Hum Genet. 1998 Sep;103(3):304-10.

PMID:
9799085
[PubMed - indexed for MEDLINE]
9.

Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.

Kohn B, Day D, Alemzadeh R, Enerio D, Patel SV, Pelczar JV, Speiser PW.

Am J Med Genet. 1995 Jul 3;57(3):450-4.

PMID:
7677150
[PubMed - indexed for MEDLINE]
10.

Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.

Loke KY, Lee YS, Lee WW, Poh LK.

Horm Res. 2001;55(4):179-84.

PMID:
11598371
[PubMed - indexed for MEDLINE]
11.

Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.

Schulze E, Scharer G, Rogatzki A, Priebe L, Lewicka S, Bettendorf M, Hoepffner W, Heinrich UE, Schwabe U.

Endocr Res. 1995 Feb-May;21(1-2):359-64.

PMID:
7588399
[PubMed - indexed for MEDLINE]
12.

Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.

Witchel SF, Lee PA.

Am J Med Genet. 1998 Apr 1;76(4):337-42.

PMID:
9545098
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.

Mathur R, Menon PS, Kabra M, Goyal RK, Verma IC.

J Pediatr Endocrinol Metab. 2001 Jan;14(1):27-35.

PMID:
11220701
[PubMed - indexed for MEDLINE]
15.

Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

Simard J, Rhéaume E, Sanchez R, Laflamme N, de Launoit Y, Luu-The V, van Seters AP, Gordon RD, Bettendorf M, Heinrich U, et al.

Mol Endocrinol. 1993 May;7(5):716-28.

PMID:
8316254
[PubMed - indexed for MEDLINE]
16.

Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes.

Bormann M, Kochhan L, Knorr D, Bidlingmaier F, Olek K.

Acta Endocrinol (Copenh). 1992 Jan;126(1):7-9.

PMID:
1736550
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel.

Siegel SF, Hoffman EP, Trucco M.

Biochem Med Metab Biol. 1994 Feb;51(1):66-73.

PMID:
8192919
[PubMed - indexed for MEDLINE]
19.
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
[PubMed - indexed for MEDLINE]

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