181 related articles for article (PubMed ID: 31950145)
1. Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.
Guran T; Kara C; Yildiz M; Bitkin EC; Haklar G; Lin JC; Keskin M; Barnard L; Anik A; Catli G; Guven A; Kirel B; Tutunculer F; Onal H; Turan S; Akcay T; Atay Z; Yilmaz GC; Mamadova J; Akbarzade A; Sirikci O; Storbeck KH; Baris T; Chung BC; Bereket A
J Clin Endocrinol Metab; 2020 Mar; 105(3):. PubMed ID: 31950145
[TBL] [Abstract][Full Text] [Related]
2. A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.
Baquedano MS; Ciaccio M; Marino R; Perez Garrido N; Ramirez P; Maceiras M; Turjanski A; Defelipe LA; Rivarola MA; Belgorosky A
J Clin Endocrinol Metab; 2015 Jan; 100(1):E191-6. PubMed ID: 25322271
[TBL] [Abstract][Full Text] [Related]
3. Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
Mermejo LM; Elias LL; Marui S; Moreira AC; Mendonca BB; de Castro M
J Clin Endocrinol Metab; 2005 Mar; 90(3):1287-93. PubMed ID: 15585552
[TBL] [Abstract][Full Text] [Related]
4. Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
Ladjouze A; Donaldson M; Plotton I; Djenane N; Mohammedi K; Tardy-Guidollet V; Mallet D; Boulesnane K; Bouzerar Z; Morel Y; Roucher-Boulez F
Front Endocrinol (Lausanne); 2022; 13():867073. PubMed ID: 35757411
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. [A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts].
Huang Y; Zheng J; Xie T; Xiao Q; Lu S; Li X; Cheng J; Chen L; Liu L
Zhonghua Er Ke Za Zhi; 2014 Dec; 52(12):948-51. PubMed ID: 25619355
[TBL] [Abstract][Full Text] [Related]
8. Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Benkert AR; Young M; Robinson D; Hendrickson C; Lee PA; Strauss KA
J Clin Endocrinol Metab; 2015 Aug; 100(8):E1105-15. PubMed ID: 26079780
[TBL] [Abstract][Full Text] [Related]
9. Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.
Panzer K; Ekhaguere OA; Darbro B; Cook J; Shchelochkov OA
J Clin Res Pediatr Endocrinol; 2017 Mar; 9(1):70-73. PubMed ID: 27796263
[TBL] [Abstract][Full Text] [Related]
10. New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM; Ricketts ML; Tardy V; Desrochers M; Mébarki F; Chaussain JL; Cabrol S; Raux-Demay MC; Forest MG; Sippell WG; Peter M; Morel Y; Simard J
J Clin Endocrinol Metab; 1999 Dec; 84(12):4410-25. PubMed ID: 10599696
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency.
Jeandron DD; Sahakitrungruang T
Horm Res Paediatr; 2012; 77(5):334-8. PubMed ID: 22343390
[TBL] [Abstract][Full Text] [Related]
13. The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.
Dundar A; Bayramov R; Onal MG; Akkus M; Dogan ME; Kenanoglu S; Cerrah Gunes M; Kazimli U; Ozbek MN; Ercan O; Yildirim R; Celmeli G; Parlak M; Dundar I; Hatipoglu N; Unluhizarci K; Akalin H; Ozkul Y; Saatci C; Dundar M
Mol Biol Rep; 2019 Aug; 46(4):3677-3690. PubMed ID: 31006099
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Three cases of 3β-hydroxysteroid dehydrogenase deficiency: Clinical analysis.
Chen L; Huang H; Zhang H; Zhu G; Zhu M
Adv Clin Exp Med; 2021 Mar; 30(3):289-299. PubMed ID: 33757164
[TBL] [Abstract][Full Text] [Related]
16. Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.
Nicola AG; Carsote M; Gheorghe AM; Petrova E; Popescu AD; Staicu AN; Țuculină MJ; Petcu C; Dascălu IT; Tircă T
Diagnostics (Basel); 2022 Sep; 12(9):. PubMed ID: 36140569
[TBL] [Abstract][Full Text] [Related]
17. 3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.
Leka-Emiri S; Taibi L; Mavroeidi V; Vlachopapadopoulou EA; Kafetzi M; Michalacos S; de Roux N
Sex Dev; 2022; 16(1):64-69. PubMed ID: 34628416
[TBL] [Abstract][Full Text] [Related]
18. 3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.
Araújo VG; Oliveira RS; Gameleira KP; Cruz CB; Lofrano-Porto A
Arq Bras Endocrinol Metabol; 2014 Aug; 58(6):650-5. PubMed ID: 25211449
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone.
Baquedano MS; Guercio G; Costanzo M; Marino R; Rivarola MA; Belgorosky A
Vitam Horm; 2018; 108():75-123. PubMed ID: 30029738
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
