BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

126 related articles for article (PubMed ID: 38746038)

  • 1. Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report.
    Herdean AM; Radulescu AM; Ilie IRP
    Med Pharm Rep; 2024 Apr; 97(2):234-238. PubMed ID: 38746038
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Kocova M; Anastasovska V; Falhammar H
    Endocrine; 2020 Aug; 69(2):262-277. PubMed ID: 32367336
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
    Tankoska M; Anastasovska V; Krstevska-Konstantinova M; Naydenov M; Kocova M
    J Pediatr Endocrinol Metab; 2019 May; 32(5):543-547. PubMed ID: 31026224
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Congenital adrenal hyperplasia].
    Stanić M; Nesović M
    Med Pregl; 1999; 52(11-12):447-54. PubMed ID: 10748766
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family.
    Kocova M; Anastasovska V; Bitovska I
    Eur J Med Res; 2019 Jun; 24(1):21. PubMed ID: 31217034
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Adrenomedullary function in patients with nonclassic congenital adrenal hyperplasia.
    Verma S; Green-Golan L; VanRyzin C; Drinkard B; Mehta SP; Weise M; Eisenhofer G; Merke DP
    Horm Metab Res; 2010 Jul; 42(8):607-12. PubMed ID: 20446239
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fertility in patients with congenital adrenal hyperplasia.
    Reichman DE; White PC; New MI; Rosenwaks Z
    Fertil Steril; 2014 Feb; 101(2):301-9. PubMed ID: 24355046
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
    New MI; Abraham M; Gonzalez B; Dumic M; Razzaghy-Azar M; Chitayat D; Sun L; Zaidi M; Wilson RC; Yuen T
    Proc Natl Acad Sci U S A; 2013 Feb; 110(7):2611-6. PubMed ID: 23359698
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.
    Schernthaner-Reiter MH; Baumgartner-Parzer S; Egarter HC; Krebs M; Kautzky-Willer A; Kirchheiner K; Luger A; Bayerle-Eder M
    J Sex Med; 2019 Oct; 16(10):1529-1540. PubMed ID: 31447379
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Saho R; Dolzan V; Zerjav Tansek M; Pastorakova A; Petrovic R; Knapkova M; Trebusak Podkrajsek K; Suput Omladic J; Bertok S; Avbelj Stefanija M; Kotnik P; Battelino T; Pribilincova Z; Groselj U
    Front Endocrinol (Lausanne); 2023; 14():1134133. PubMed ID: 37008950
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
    Lao Q; Burkardt DD; Kollender S; Faucz FR; Merke DP
    Mol Genet Genomic Med; 2023 Jul; 11(7):e2195. PubMed ID: 37157918
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency.
    Anastasovska V; Milenković T; Kocova M
    J Med Biochem; 2015 Jan; 34(1):52-57. PubMed ID: 28356824
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
    Marino R; Ramirez P; Galeano J; Perez Garrido N; Rocco C; Ciaccio M; Warman DM; Guercio G; Chaler E; Maceiras M; Bergadá I; Gryngarten M; Balbi V; Pardes E; Rivarola MA; Belgorosky A
    Clin Endocrinol (Oxf); 2011 Oct; 75(4):427-35. PubMed ID: 21609351
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Growth pattern of untreated boys with simple virilizing congenital adrenal hyperplasia indicates relative androgen insensitivity during the first six months of life.
    Bonfig W; Schwarz HP
    Horm Res Paediatr; 2011; 75(4):264-8. PubMed ID: 21196707
    [TBL] [Abstract][Full Text] [Related]  

  • 15. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
    Baş F; Kayserili H; Darendeliler F; Uyguner O; Günöz H; Yüksel Apak M; Atalar F; Bundak R; Wilson RC; New MI; Wollnik B; Saka N
    J Clin Res Pediatr Endocrinol; 2009; 1(3):116-28. PubMed ID: 21274396
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB; Turatti W; Elias PC; Elias LL; Martinelli CE; Moreira AC; Antonini SR; de Castro M
    Gene; 2013 Sep; 526(2):239-45. PubMed ID: 23570880
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.
    Krone N; Braun A; Roscher AA; Knorr D; Schwarz HP
    J Clin Endocrinol Metab; 2000 Mar; 85(3):1059-65. PubMed ID: 10720040
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with simple virilizing form of congenital adrenal hyperplasia.
    Jiang L; Song LL; Wang H; Wang JL; Wang PP; Zhou HB; Zhang XL
    J Endocrinol Invest; 2012 May; 35(5):485-9. PubMed ID: 21750395
    [TBL] [Abstract][Full Text] [Related]  

  • 19. How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
    L'Allemand D; Tardy V; Grüters A; Schnabel D; Krude H; Morel Y
    J Clin Endocrinol Metab; 2000 Dec; 85(12):4562-7. PubMed ID: 11134109
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.