These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 33180036)

  • 21. 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]  

  • 22. 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]  

  • 23. Co-Occurrence of a Pathogenic
    Mellone S; Bertelli E; Roviglione B; Vurchio D; Ronzani S; Secco A; Felici E; Strozzi MM; Schena F; Giordano M
    Genes (Basel); 2022 Nov; 13(12):. PubMed ID: 36553457
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.
    Burckhardt MA; Udhane SS; Marti N; Schnyder I; Tapia C; Nielsen JE; Mullis PE; Rajpert-De Meyts E; Flück CE
    Eur J Endocrinol; 2015 Nov; 173(5):K1-K12. PubMed ID: 26290012
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
    Pang S; Carbunaru G; Haider A; Copeland KC; Chang YT; Lutfallah C; Mason JI
    Clin Endocrinol (Oxf); 2003 Mar; 58(3):323-31. PubMed ID: 12608938
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.
    Takasawa K; Ono M; Hijikata A; Matsubara Y; Katsumata N; Takagi M; Morio T; Ohara O; Kashimada K; Mizutani S
    Clin Endocrinol (Oxf); 2014 Jun; 80(6):782-9. PubMed ID: 24372086
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia.
    Li Z; Liang Y; Du C; Yu X; Hou L; Wu W; Ying Y; Luo X
    BMC Endocr Disord; 2021 Nov; 21(1):237. PubMed ID: 34823514
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Infant with 3β-hydroxy-Δ(5)-C27 steroid dehydrogenase deficiency: report of two cases and literatures review].
    Li X; Huang Z; Wang H
    Zhonghua Er Ke Za Zhi; 2015 May; 53(5):360-5. PubMed ID: 26080666
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Adrenarche unmasks compound heterozygous 3β-hydroxysteroid dehydrogenase deficiency: c.244G>A (p.Ala82Thr) and the novel 931C>T (p.Gln311*) variant in a non-salt wasting, severely undervirilised 46XY.
    Teasdale SL; Morton A
    J Pediatr Endocrinol Metab; 2017 Mar; 30(3):355-360. PubMed ID: 28207417
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.
    Donadille B; Houang M; Netchine I; Siffroi JP; Christin-Maitre S
    Endocr Connect; 2018 Mar; 7(3):395-402. PubMed ID: 29420188
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity.
    Shehab MA; Mahmood T; Hasanat MA; Fariduddin M; Ahsan N; Hossain MS; Hossain MS; Jahan S
    Endocrinol Diabetes Metab Case Rep; 2018 Oct; 2018(1):18-0108. PubMed ID: 30328339
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
    Al Alawi AM; Nordenström A; Falhammar H
    Endocrine; 2019 Mar; 63(3):407-421. PubMed ID: 30719691
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency.
    Pan Y; Zhong S; Hu RM; Gong W
    Mol Med Rep; 2012 Dec; 6(6):1305-8. PubMed ID: 23026940
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.