486 related articles for article (PubMed ID: 23337727)
1. Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
Krone N; Rose IT; Willis DS; Hodson J; Wild SH; Doherty EJ; Hahner S; Parajes S; Stimson RH; Han TS; Carroll PV; Conway GS; Walker BR; MacDonald F; Ross RJ; Arlt W;
J Clin Endocrinol Metab; 2013 Feb; 98(2):E346-54. PubMed ID: 23337727
[TBL] [Abstract][Full Text] [Related]
2. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
Dumic KK; Grubic Z; Yuen T; Wilson RC; Kusec V; Barisic I; Stingl K; Sansovic I; Skrabic V; Dumic M; New MI
J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):51-56. PubMed ID: 27041116
[TBL] [Abstract][Full Text] [Related]
3. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Finkielstain GP; Chen W; Mehta SP; Fujimura FK; Hanna RM; Van Ryzin C; McDonnell NB; Merke DP
J Clin Endocrinol Metab; 2011 Jan; 96(1):E161-72. PubMed ID: 20926536
[TBL] [Abstract][Full Text] [Related]
4. Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
Jayakrishnan R; Lao Q; Adams SD; Ward WW; Merke DP
Gene; 2019 Mar; 687():30-34. PubMed ID: 30419250
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.
Khajuria R; Walia R; Bhansali A; Prasad R
Clin Chim Acta; 2017 Jan; 464():189-194. PubMed ID: 27890570
[TBL] [Abstract][Full Text] [Related]
7. Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C; Jia W; Cheng X; Ying H; Chen J; Xu J; Guan Q; Zhou X; Zheng D; Li G; Zhao J
Mol Genet Genomic Med; 2019 Jun; 7(6):e671. PubMed ID: 30968594
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
Mouritsen A; Jørgensen N; Main KM; Schwartz M; Juul A
Int J Androl; 2010 Jun; 33(3):521-7. PubMed ID: 19531083
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
Santos-Silva R; Cardoso R; Lopes L; Fonseca M; Espada F; Sampaio L; Brandão C; Antunes A; Bragança G; Coelho R; Bernardo T; Vieira P; Morais R; Leite AL; Ribeiro L; Carvalho B; Grangeia A; Oliveira R; Oliveira MJ; Rey V; Rosmaninho-Salgado J; Marques B; Garcia AM; Meireles A; Carvalho J; Sequeira A; Mirante A; Borges T;
Horm Res Paediatr; 2019; 91(1):33-45. PubMed ID: 30889569
[TBL] [Abstract][Full Text] [Related]
13. Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
Milacic I; Barac M; Milenkovic T; Ugrin M; Klaassen K; Skakic A; Jesic M; Joksic I; Mitrovic K; Todorovic S; Vujovic S; Pavlovic S; Stojiljkovic M
J Endocrinol Invest; 2015 Nov; 38(11):1199-210. PubMed ID: 26233337
[TBL] [Abstract][Full Text] [Related]
14. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
Grigorescu Sido A; Weber MM; Grigorescu Sido P; Clausmeyer S; Heinrich U; Schulze E
J Clin Endocrinol Metab; 2005 Oct; 90(10):5769-73. PubMed ID: 16046588
[TBL] [Abstract][Full Text] [Related]
15. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
Khattab A; Yuen T; Al-Malki S; Yau M; Kazmi D; Sun L; Harbison M; Haider S; Zaidi M; New MI
Ann N Y Acad Sci; 2016 Jan; 1364(1):5-10. PubMed ID: 26291314
[TBL] [Abstract][Full Text] [Related]
16. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
de Carvalho DF; Miranda MC; Gomes LG; Madureira G; Marcondes JA; Billerbeck AE; Rodrigues AS; Presti PF; Kuperman H; Damiani D; Mendonca BB; Bachega TA
Eur J Endocrinol; 2016 Aug; 175(2):107-16. PubMed ID: 27185867
[TBL] [Abstract][Full Text] [Related]
17. Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.
Aycan Z; Keskin M; Lafcı NG; Savaş-Erdeve Ş; Baş F; Poyrazoğlu Ş; Öztürk P; Parlak M; Ercan O; Güran T; Hatipoğlu N; Uçaktürk SA; Çatlı G; Akyürek N; Önder A; Kılınç S; Çetinkaya S
Eur J Med Genet; 2022 Dec; 65(12):104654. PubMed ID: 36343887
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
Barbaro M; Soardi FC; Östberg LJ; Persson B; de Mello MP; Wedell A; Lajic S
Clin Endocrinol (Oxf); 2015 Jan; 82(1):37-44. PubMed ID: 24953648
[TBL] [Abstract][Full Text] [Related]
20. Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
Essawi M; Mazen I; Fawaz L; Hassan H; ElBagoury N; Peter M; Gaafar K; Amer M; Nabil W; Hohmann G; Soliman H; Sippell W
J Pediatr Endocrinol Metab; 2020 Jul; 33(7):893-900. PubMed ID: 32614782
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
