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6. Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome. Cheng J; Ma D; Wu Y; Luo C; Huang C; Hu P; Zhang J; Jiang T; Xu Z Gene; 2015 Oct; 571(2):298-302. PubMed ID: 26187070 [TBL] [Abstract][Full Text] [Related]
7. Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders. Bouazoune K; Kingston RE Proc Natl Acad Sci U S A; 2012 Nov; 109(47):19238-43. PubMed ID: 23134727 [TBL] [Abstract][Full Text] [Related]
8. Sema3a plays a role in the pathogenesis of CHARGE syndrome. Ufartes R; Schwenty-Lara J; Freese L; Neuhofer C; Möller J; Wehner P; van Ravenswaaij-Arts CMA; Wong MTY; Schanze I; Tzschach A; Bartsch O; Borchers A; Pauli S Hum Mol Genet; 2018 Apr; 27(8):1343-1352. PubMed ID: 29432577 [TBL] [Abstract][Full Text] [Related]
9. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Meisner JK; Martin DM Am J Med Genet C Semin Med Genet; 2020 Mar; 184(1):81-89. PubMed ID: 31833191 [TBL] [Abstract][Full Text] [Related]
10. Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome. Lee SJ; Chae JH; Lee JA; Cho SI; Seo SH; Park H; Seong MW; Park SS Ann Lab Med; 2015 Jan; 35(1):141-5. PubMed ID: 25553296 [TBL] [Abstract][Full Text] [Related]
11. A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. Sekiguchi K; Itonaga T; Maeda T; Fukami M; Yorifuji T; Ihara K Eur J Med Genet; 2018 Jun; 61(6):312-314. PubMed ID: 29355723 [TBL] [Abstract][Full Text] [Related]
12. CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon. Pisaneschi E; Sirleto P; Lepri FR; Genovese S; Dentici ML; Petrocchi S; Angioni A; Digilio MC; Dallapiccola B BMC Med Genet; 2015 Sep; 16():78. PubMed ID: 26334530 [TBL] [Abstract][Full Text] [Related]
13. CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development. Yao H; Hill SF; Skidmore JM; Sperry ED; Swiderski DL; Sanchez GJ; Bartels CF; Raphael Y; Scacheri PC; Iwase S; Martin DM JCI Insight; 2018 Feb; 3(4):. PubMed ID: 29467333 [TBL] [Abstract][Full Text] [Related]
14. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. Husu E; Hove HD; Farholt S; Bille M; Tranebjærg L; Vogel I; Kreiborg S Clin Genet; 2013 Feb; 83(2):125-34. PubMed ID: 22462537 [TBL] [Abstract][Full Text] [Related]
15. Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features. Khalifa OA; Walter CU; Rahbeeni ZA; Verloes A Eur J Med Genet; 2011; 54(2):173-6. PubMed ID: 21094707 [TBL] [Abstract][Full Text] [Related]
16. Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research. Kosaki K Congenit Anom (Kyoto); 2011 Mar; 51(1):12-5. PubMed ID: 21338411 [TBL] [Abstract][Full Text] [Related]
17. A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients. Brajadenta GS; Bilan F; Gilbert-Dussardier B; Kitzis A; Thoreau V Eur J Hum Genet; 2019 Nov; 27(11):1683-1691. PubMed ID: 31289371 [TBL] [Abstract][Full Text] [Related]
18. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. Granadillo JL; Wegner DJ; Paul AJ; Willing M; Sisco K; Tedder ML; Sadikovic B; Wambach JA; Baldridge D; Cole FS; Am J Med Genet A; 2021 Feb; 185(2):544-548. PubMed ID: 33184947 [TBL] [Abstract][Full Text] [Related]
19. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. Bergman JE; Janssen N; Hoefsloot LH; Jongmans MC; Hofstra RM; van Ravenswaaij-Arts CM J Med Genet; 2011 May; 48(5):334-42. PubMed ID: 21378379 [TBL] [Abstract][Full Text] [Related]
20. CHARGE: an association or a syndrome? Pampal A Int J Pediatr Otorhinolaryngol; 2010 Jul; 74(7):719-22. PubMed ID: 20363513 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]