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Items: 1 to 20 of 149

1.

High frequency of nonclassical steroid 21-hydroxylase deficiency.

Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI.

Am J Hum Genet. 1985 Jul;37(4):650-67.

2.

A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency.

Sherman SL, Aston CE, Morton NE, Speiser PW, New MI.

Am J Hum Genet. 1988 Jun;42(6):830-8.

3.

An update on the frequency of nonclassic deficiency of adrenal 21-hydroxylase in the Yugoslav population.

Dumić M, Brkljacić L, Speiser PW, Wood E, Crawford C, Plavsić V, Baniceviác M, Radmanović S, Radica A, Kastelan A, et al.

Acta Endocrinol (Copenh). 1990 Jun;122(6):703-10.

PMID:
2375234
4.

Basic and clinical aspects of congenital adrenal hyperplasia.

New MI.

J Steroid Biochem. 1987;27(1-3):1-7. Review.

PMID:
3320531
5.

HLA-B14 and nonclassical 21-hydroxylase deficiency in a heterogeneous New York population.

Levine LS.

Ann N Y Acad Sci. 1985;458:65-70. No abstract available.

PMID:
3879132
6.

TaqI HLA-B and -DRB RFLP analysis can predict disease in siblings of affected children with 21-hydroxylase deficiency.

Olerup O, Luthman H, Ritzén EM, Haglund-Stengler B.

Hum Genet. 1990 Oct;85(5):467-72.

PMID:
1977680
7.
8.

HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency.

Pollack MS, Levine LS, O'Neill GJ, Pang S, Lorenzen F, Kohn B, Rondanini GF, Chiumello G, New MI, Dupont B.

Am J Hum Genet. 1981 Jul;33(4):540-50.

9.

An update of congenital adrenal hyperplasia.

New MI.

Ann N Y Acad Sci. 2004 Dec;1038:14-43.

PMID:
15838095
10.

21-Hydroxylase deficiency: from molecular genetics to clinical presentation.

Trakakis E, Laggas D, Salamalekis E, Creatsas G.

J Endocrinol Invest. 2005 Feb;28(2):187-92. Review.

PMID:
15887869
11.

[A genetic and hormonal study of 5 patients with the nonclassical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

Velasco FJ, Picó AM, Muñoz C, Mauri M, de la Sen ML.

Med Clin (Barc). 1992 Jun 13;99(3):81-6. Spanish.

PMID:
1321317
12.

Late-onset type of 21-hydroxylase deficiency in childhood.

Roitman A, Stivel M, Zamir R, Kaufman H, Pertzelan A, Laron Z.

Isr J Med Sci. 1982 Jul;18(7):763-8.

PMID:
6980865
13.

Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia.

Kohn B, Levine LS, Pollack MS, Pang S, Lorenzen F, Levy D, Lerner AJ, Rondanini GF, Dupont B, New MI.

J Clin Endocrinol Metab. 1982 Nov;55(5):817-27.

PMID:
6288753
14.

Distribution of the V281L mutation of the CYP21 gene in Israeli congenital adrenal hyperplasia patients and its association with HLA- B14.

Israel S, Weinrib L, Weintrob N, Miller K, Brautbar C.

Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:447-50. Erratum in: Pediatr Endocrinol Rev. 2007 Sep;5(1):470.

PMID:
17551464
15.

The biochemical basis for genotyping 21-hydroxylase deficiency.

New MI, Dupont B, Pollack MS, Levine LS.

Hum Genet. 1981;58(1):123-7.

PMID:
6269988
16.

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
17.

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.

Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B, Zappulla F.

Clin Endocrinol (Oxf). 2000 Jul;53(1):117-25.

PMID:
10931088
19.

Genetics of adrenal steroid 21-hydroxylase deficiency.

New MI, Speiser PW.

Endocr Rev. 1986 Aug;7(3):331-49. Review.

PMID:
3527688
20.

[Genetic of the 21 hydroxylase deficiency].

Boué A, Couillin P, Pomarède R, Rappaport R, Boué J.

Ann Endocrinol (Paris). 1982;43(1):3-14. French.

PMID:
6982657
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