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4. The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency. Gao Y; Lu L; Yu B; Mao J; Wang X; Nie M; Wu X J Clin Endocrinol Metab; 2020 Jul; 105(7):. PubMed ID: 32291442 [TBL] [Abstract][Full Text] [Related]
5. Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X. Kolli V; Kim H; Rao H; Lao Q; Gaynor A; Milner JD; Merke DP BMC Res Notes; 2019 Oct; 12(1):711. PubMed ID: 31666125 [TBL] [Abstract][Full Text] [Related]
9. Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome. Marino R; Moresco A; Perez Garrido N; Ramirez P; Belgorosky A Front Endocrinol (Lausanne); 2022; 13():803226. PubMed ID: 35282436 [TBL] [Abstract][Full Text] [Related]
10. A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. Lao Q; Mallappa A; Rueda Faucz F; Joyal E; Veeraraghavan P; Chen W; Merke DP Mol Genet Genomic Med; 2021 Feb; 9(2):e1556. PubMed ID: 33332743 [TBL] [Abstract][Full Text] [Related]
11. Congenital adrenal hyperplasia with a Ivo CR; Fitas AL; Madureira I; Diamantino C; Gomes S; Gonçalves J; Lopes L J Pediatr Endocrinol Metab; 2023 Jan; 36(1):81-85. PubMed ID: 36259452 [TBL] [Abstract][Full Text] [Related]
12. 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]
14. High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. Lao Q; Brookner B; Merke DP J Mol Diagn; 2019 Sep; 21(5):924-931. PubMed ID: 31229653 [TBL] [Abstract][Full Text] [Related]
15. Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module. Lee HH Mol Genet Metab; 2005 Jan; 84(1):4-8. PubMed ID: 15639189 [TBL] [Abstract][Full Text] [Related]
16. Response to Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia". Marino R; Perez Garrido N; Ramirez P; Belgorosky A J Clin Endocrinol Metab; 2021 Jun; 106(7):e2837-e2838. PubMed ID: 33901286 [No Abstract] [Full Text] [Related]
17. Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clirnical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia". Lao Q; Merke DP J Clin Endocrinol Metab; 2021 Jun; 106(7):e2835-e2836. PubMed ID: 33901292 [No Abstract] [Full Text] [Related]
18. Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency. Paragliola RM; Perrucci A; Foca L; Urbani A; Concolino P J Clin Med; 2022 Jul; 11(13):. PubMed ID: 35807105 [TBL] [Abstract][Full Text] [Related]
19. The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects. Chen W; Kim MS; Shanbhag S; Arai A; VanRyzin C; McDonnell NB; Merke DP Am J Med Genet A; 2009 Dec; 149A(12):2803-8. PubMed ID: 19921645 [TBL] [Abstract][Full Text] [Related]
20. Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome. Morissette R; Merke DP; McDonnell NB Eur J Med Genet; 2014 Feb; 57(2-3):95-102. PubMed ID: 24380766 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]