125 related articles for article (PubMed ID: 10694926)
1. A novel homozygous nonsense mutations E135* in the type II 3beta-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia. Mutations in brief no. 168. Online.
Marui S; Torrealba IM; Russell AJ; Latronico AC; Sutcliffe RG; Mendonca BB
Hum Mutat; 1998; 12(2):139. PubMed ID: 10694926
[TBL] [Abstract][Full Text] [Related]
2. Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency.
Simard J; Moisan AM; Morel Y
Semin Reprod Med; 2002 Aug; 20(3):255-76. PubMed ID: 12428206
[TBL] [Abstract][Full Text] [Related]
3. A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.
Pang S; Wang W; Rich B; David R; Chang YT; Carbunaru G; Myers SE; Howie AF; Smillie KJ; Mason JI
J Clin Endocrinol Metab; 2002 Jun; 87(6):2556-63. PubMed ID: 12050213
[TBL] [Abstract][Full Text] [Related]
4. A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
Zhang L; Sakkal-Alkaddour H; Chang YT; Yang X; Pang S
J Clin Endocrinol Metab; 1996 Jan; 81(1):291-5. PubMed ID: 8550766
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia.
Chang YT; Kappy MS; Iwamoto K; Wang J; Yang X; Pang S
Pediatr Res; 1993 Nov; 34(5):698-700. PubMed ID: 8284113
[TBL] [Abstract][Full Text] [Related]
6. 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
Mol Endocrinol; 1993 May; 7(5):716-28. PubMed ID: 8316254
[TBL] [Abstract][Full Text] [Related]
7. Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.
Welzel M; Wüstemann N; Simic-Schleicher G; Dörr HG; Schulze E; Shaikh G; Clayton P; Grötzinger J; Holterhus PM; Riepe FG
J Clin Endocrinol Metab; 2008 Apr; 93(4):1418-25. PubMed ID: 18252794
[TBL] [Abstract][Full Text] [Related]
8. Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene.
Mébarki F; Sanchez R; Rhéaume E; Laflamme N; Simard J; Forest MG; Bey-Omar F; David M; Labrie F; Morel Y
J Clin Endocrinol Metab; 1995 Jul; 80(7):2127-34. PubMed ID: 7608265
[TBL] [Abstract][Full Text] [Related]
9. Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.
Lutfallah C; Wang W; Mason JI; Chang YT; Haider A; Rich B; Castro-Magana M; Copeland KC; David R; Pang S
J Clin Endocrinol Metab; 2002 Jun; 87(6):2611-22. PubMed ID: 12050224
[TBL] [Abstract][Full Text] [Related]
10. Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.
Rhéaume E; Simard J; Morel Y; Mebarki F; Zachmann M; Forest MG; New MI; Labrie F
Nat Genet; 1992 Jul; 1(4):239-45. PubMed ID: 1363812
[TBL] [Abstract][Full Text] [Related]
11. A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis.
Nordenström A; Forest MG; Wedell A
Horm Res; 2007; 68(4):204-8. PubMed ID: 17496421
[TBL] [Abstract][Full Text] [Related]
12. A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty.
Alos N; Moisan AM; Ward L; Desrochers M; Legault L; Leboeuf G; Van Vliet G; Simard J
J Clin Endocrinol Metab; 2000 May; 85(5):1968-74. PubMed ID: 10843183
[TBL] [Abstract][Full Text] [Related]
13. Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia.
Schneider G; Genel M; Bongiovanni AM; Goldman AS; Rosenfield RL
J Clin Invest; 1975 Apr; 55(4):681-90. PubMed ID: 164481
[TBL] [Abstract][Full Text] [Related]
14. Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency.
Johannsen TH; Mallet D; Dige-Petersen H; Müller J; Main KM; Morel Y; Forest MG
J Clin Endocrinol Metab; 2005 Apr; 90(4):2076-80. PubMed ID: 15671104
[TBL] [Abstract][Full Text] [Related]
15. Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.
Lusa LG; Lemos-Marini SH; Soardi FC; Ferraz LF; Guerra-Júnior G; Mello MP
Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):768-74. PubMed ID: 21340167
[TBL] [Abstract][Full Text] [Related]
16. Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency.
Rhéaume E; Sanchez R; Simard J; Chang YT; Wang J; Pang S; Labrie F
J Clin Endocrinol Metab; 1994 Oct; 79(4):1012-8. PubMed ID: 7962268
[TBL] [Abstract][Full Text] [Related]
17. 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; 1998 Jul; 64(3):184-92. PubMed ID: 9719627
[TBL] [Abstract][Full Text] [Related]
18. Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency.
Sanchez R; Rhéaume E; Laflamme N; Rosenfield RL; Labrie F; Simard J
J Clin Endocrinol Metab; 1994 Mar; 78(3):561-7. PubMed ID: 8126127
[TBL] [Abstract][Full Text] [Related]
19. Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder.
Zhang L; Mason JI; Naiki Y; Copeland KC; Castro-Magana M; Gordon-Walker TT; Chang YT; Pang S
J Clin Endocrinol Metab; 2000 Apr; 85(4):1678-85. PubMed ID: 10770215
[TBL] [Abstract][Full Text] [Related]
20. Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the
Fanis P; Neocleous V; Kosta K; Karipiadou A; Hartmann MF; Wudy SA; Karantaglis N; Papadimitriou DT; Skordis N; Tsikopoulos G; Phylactou LA; Roilides E; Papagianni M
J Pediatr Endocrinol Metab; 2021 Jan; 34(1):131-136. PubMed ID: 33180036
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
