1 | HSD3B2
|
| Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias.
|
| Codner E, Okuma C, Iniguez G, Boric MA, Avila A, Johnson MC, Cassorla FG.
|
| J Clin Endocrinol Metab 89(2):957-64. 2004
|
2 | HSD3B1, HSD3B2
|
| Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.
|
| Chang BL, Zheng SL, Hawkins GA, Isaacs SD, Wiley KE, Turner A, Carpten JD, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB, Xu J.
|
| Cancer Res 62(6):1784-9. 2002
|
3 | HSD3B2
|
| Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents.
|
| Nayak S, Lee PA, Witchel SF.
|
| Mol Genet Metab 64 : 184-192. 1998
|
4 | HSD3B2
|
| A new compound heterozygous frameshift mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causes salt-wasting 3beta-HSD deficiency congenital adrenal hyperplasia.
|
| Zhang L, et al.
|
| J Clin Endocrinol Metab 81 : 291-295. 1996
|
5 | HSD3B1, HSD3B2
|
| Human 3beta-hydroxysteroid dehydrogenase : genes and phenotypes.
|
| Sutcliffe RG, et al.
|
| J Mol Endocrinol 17 : 1-5. 1996
|
6 | HSD3B2
|
| Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3beta-hydroxysteroid dehydrogenase gene.
|
| Mˇbarki F, et al.
|
| J Clin Endocrinol Metab 80 : 2127-2134. 1995
|
7 | HSD3B1, HSD3B2
|
| The human 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene cluster on chromosome 1p13 contains a presumptive pseudogene ; 3beta-HSD and CYP17 do not segregate with dominantly inherited hirsutism.
|
| McBride MW, et al.
|
| J Mol Endocrinol 15 : 167-176. 1995
|
8 | HSD3B1, HSD3B2, HSD3BP1, HSD3BP2, HSD3BP3
|
| Structure-function relationships and molecular genetics of the 3beta-hydroxysteroid dehydrogenase gene family.
|
| Simard J, et al.
|
| J Steroid Biochem Mol Biol 55 : 489-505. 1995
|
9 | HSD3B2
|
| A novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase deficiency.
|
| Katsumata N, et al.
|
| Hum Mol Genet 4 : 745-746. 1995
|
10 | HSD3B1, HSD3B2
|
| No linkage to the 3beta-HSD gene cluster in a kindred affected with 3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency and early onset hepatic failure.
|
| Russell A, et al.
|
| Hum Genet 95 : 586-588. 1995
|
11 | HSD3B2
|
| Molecular analysis of type II 3beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3beta-hydroxysteroid dehydrogenase deficiency.
|
| Tajima T, et al.
|
| Hum Mol Genet 4 : 969-971. 1995
|
12 | HSD3B2
|
| Identification and characterization of the G15D mutation found in a male patient with 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency : alteration of the putative NAD-binding domain of type II 3beta-HSD.
|
| Rhˇaume E, et al.
|
| Biochemistry 34 : 2893-2900. 1995
|
13 | HSD3B1, HSD3B2
|
| Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3beta-hydroxysteroid dehydrogenase/delta5-delta4-isomerase close to D1S514 and the centromeric D1Z5 locus.
|
| Morissette J, et al.
|
| Cytogenet Cell Genet 69 : 59-62. 1995
|
14 | HSD3B2
|
| Dinucleotide repeat polymorphisms in the HSD3B2 gene.
|
| Verreault H, et al.
|
| Hum Mol Genet 3 : 384. 1994
|
15 | HSD3B2
|
| Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273deltaAA in type II 3beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin.
|
| Simard J, et al.
|
| Hum Mol Genet 3 : 327-330. 1994
|
16 | HSD3B2
|
| Detection and functional characterization of the novel missense mutation Y254D in type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene of a female patient with nonsalt-losing 3beta HSD deficiency.
|
| Sanchez R, et al.
|
| J Clin Endocrinol Metab 78 : 561-567. 1994
|
17 | HSD3B2
|
| Mutation in the human gene for 3beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss.
|
| Russell AJ, et al.
|
| J Mol Endocrinol 12 : 225-237. 1994
|
18 | HSD3B2
|
| Functional characterization of the novel L108W and P186L mutations detected in the type II 3beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.
|
| Sanchez R, et al.
|
| Hum Mol Genet 3 : 1639-1645. 1994
|
19 | HSD3B2
|
| Mutations in the type II 3beta- hydroxysteroid dehydrogenase gene in a patient with classic salt wasting 3beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia.
|
| Chang YT, et al.
|
| Pediatr Res 34 : 698-700. 1993
|
20 | HSD3B2
|
| Congenital adrenal hyperplasia due to point mutations in the type II 3beta-hydroxysteroid dehydrogenase gene.
|
| Rhˇaume E, et al.
|
| Nat Genet 1 : 239-245. 1992
|
21 | HSD3B2
|
| Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase (3beta-HSD) gene : adrenal and gonadal specificity.
|
| Lachance Y, et al.
|
| DNA Cell Biol 10 : 701-711. 1991
|