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Items: 1 to 20 of 102

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
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
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
5.

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
6.

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
7.

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
8.

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
9.

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
10.
11.

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
12.

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
13.

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
15.

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
17.

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
18.

de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings.

Tajima T, Fujieda K, Fujii-Kuriyama Y.

J Clin Endocrinol Metab. 1993 Jul;77(1):86-9.

PMID:
8325964
19.

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
20.

Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.

Bobba A, Iolascon A, Giannattasio S, Albrizio M, Sinisi A, Prisco F, Schettini F, Marra E.

J Med Genet. 1997 Mar;34(3):223-8.

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