179 related articles for article (PubMed ID: 37324257)
1. The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Fanis P; Skordis N; Toumba M; Picolos M; Tanteles GA; Neocleous V; Phylactou LA
Front Endocrinol (Lausanne); 2023; 14():1156616. PubMed ID: 37324257
[TBL] [Abstract][Full Text] [Related]
2. A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
Doleschall M; Luczay A; Koncz K; Hadzsiev K; Erhardt É; Szilágyi Á; Doleschall Z; Németh K; Török D; Prohászka Z; Gereben B; Fekete G; Gláz E; Igaz P; Korbonits M; Tóth M; Rácz K; Patócs A
Eur J Hum Genet; 2017 Jun; 25(6):702-710. PubMed ID: 28401898
[TBL] [Abstract][Full Text] [Related]
3. Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
Kleinle S; Lang R; Fischer GF; Vierhapper H; Waldhauser F; Födinger M; Baumgartner-Parzer SM
J Clin Endocrinol Metab; 2009 Oct; 94(10):3954-8. PubMed ID: 19773403
[TBL] [Abstract][Full Text] [Related]
4. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
Fanis P; Skordis N; Phylactou LA; Neocleous V
Hormones (Athens); 2023 Mar; 22(1):71-77. PubMed ID: 36264454
[TBL] [Abstract][Full Text] [Related]
5. A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
Concolino P
Mol Biol Rep; 2020 Apr; 47(4):3049-3052. PubMed ID: 32185686
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
Saraf S; Srivastava P; Panigrahi I; Seenappa V; Kumar R; Yadav J; Daniel R; Dayal D
Indian J Pediatr; 2024 Feb; 91(2):137-142. PubMed ID: 35094236
[TBL] [Abstract][Full Text] [Related]
8. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
Leccese A; Longo V; Dimatteo C; De Girolamo G; Trunzo R; D'Andrea G; Bafunno V; Margaglione M; Santacroce R
Clin Chim Acta; 2014 Nov; 437():48-51. PubMed ID: 25025300
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
Li H; Zhu X; Yang Y; Wang W; Mao A; Li J; Bao S; Li J
Clin Chim Acta; 2023 Jul; 547():117419. PubMed ID: 37276943
[TBL] [Abstract][Full Text] [Related]
11. Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
Carrozza C; Foca L; De Paolis E; Concolino P
Front Endocrinol (Lausanne); 2021; 12():709758. PubMed ID: 34394006
[TBL] [Abstract][Full Text] [Related]
12. Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Chen W; Xu Z; Nishitani M; Van Ryzin C; McDonnell NB; Merke DP
Hum Genet; 2012 Dec; 131(12):1889-94. PubMed ID: 22886582
[TBL] [Abstract][Full Text] [Related]
13. [Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
Luo C; Jiang T; Zhang J; Li L; Sun Y; Liu G; Wang Y; Cheng J; Ma D; Xu Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):832-835. PubMed ID: 30512157
[TBL] [Abstract][Full Text] [Related]
14. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
Concolino P; Mello E; Toscano V; Ameglio F; Zuppi C; Capoluongo E
Clin Chim Acta; 2009 Apr; 402(1-2):164-70. PubMed ID: 19263525
[TBL] [Abstract][Full Text] [Related]
15. Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.
Bánlaki Z; Szabó JA; Szilágyi Á; Patócs A; Prohászka Z; Füst G; Doleschall M
Genome Biol Evol; 2013; 5(1):98-112. PubMed ID: 23241443
[TBL] [Abstract][Full Text] [Related]
16. Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
Prado MJ; de Castro SM; Kopacek C; de Mello MP; Rispoli T; Grandi T; da Silva CMD; Rossetti MLR
Mol Diagn Ther; 2017 Dec; 21(6):663-675. PubMed ID: 28819757
[TBL] [Abstract][Full Text] [Related]
17. Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia.
Wang W; Han R; Yang Z; Zheng S; Li H; Wan Z; Qi Y; Sun S; Ye L; Ning G
J Steroid Biochem Mol Biol; 2021 Jul; 211():105899. PubMed ID: 33864926
[TBL] [Abstract][Full Text] [Related]
18. Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Concolino P; Perrucci A; Carrozza C; Urbani A
Mol Diagn Ther; 2023 Sep; 27(5):621-630. PubMed ID: 37548905
[TBL] [Abstract][Full Text] [Related]
19. Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia.
Jang JH; Jin DK; Kim JH; Tan HK; Kim JW; Lee SY; Ki CS; Park HD
Ann Clin Lab Sci; 2011; 41(1):44-7. PubMed ID: 21325254
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]