These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
203 related articles for article (PubMed ID: 23142376)
1. 8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature. Palumbo O; Palumbo P; Stallone R; Palladino T; Zelante L; Carella M Gene; 2013 Jan; 513(1):209-13. PubMed ID: 23142376 [TBL] [Abstract][Full Text] [Related]
2. Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly. Luo H; Xie L; Wang SZ; Chen JL; Huang C; Wang J; Yang JF; Zhang WZ; Yang YF; Tan ZP Eur J Med Genet; 2012 Nov; 55(11):646-9. PubMed ID: 22902603 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Lehman AM; Friedman JM; Chai D; Zahir FR; Marra MA; Prisman L; Tsang E; Eydoux P; Armstrong L Eur J Med Genet; 2009; 52(6):436-9. PubMed ID: 19772954 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome. Michelucci A; Ghirri P; Iacopetti P; Conidi ME; Fogli A; Baldinotti F; Lunardi S; Forli F; Moscuzza F; Berrettini S; Boldrini A; Simi P; Pellegrini S Int J Pediatr Otorhinolaryngol; 2010 Dec; 74(12):1441-4. PubMed ID: 20943277 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Vissers LE; van Ravenswaaij CM; Admiraal R; Hurst JA; de Vries BB; Janssen IM; van der Vliet WA; Huys EH; de Jong PJ; Hamel BC; Schoenmakers EF; Brunner HG; Veltman JA; van Kessel AG Nat Genet; 2004 Sep; 36(9):955-7. PubMed ID: 15300250 [TBL] [Abstract][Full Text] [Related]
9. Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. Wessels K; Bohnhorst B; Luhmer I; Morlot S; Bohring A; Jonasson J; Epplen JT; Gadzicki D; Glaser S; Göhring G; Mälzer M; Hein A; Arslan-Kirchner M; Stuhrmann M; Schmidtke J; Pabst B Eur J Med Genet; 2010; 53(5):280-5. PubMed ID: 20624498 [TBL] [Abstract][Full Text] [Related]
10. Mutation update on the CHD7 gene involved in CHARGE syndrome. Janssen N; Bergman JE; Swertz MA; Tranebjaerg L; Lodahl M; Schoots J; Hofstra RM; van Ravenswaaij-Arts CM; Hoefsloot LH Hum Mutat; 2012 Aug; 33(8):1149-60. PubMed ID: 22461308 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. Jongmans MC; Admiraal RJ; van der Donk KP; Vissers LE; Baas AF; Kapusta L; van Hagen JM; Donnai D; de Ravel TJ; Veltman JA; Geurts van Kessel A; De Vries BB; Brunner HG; Hoefsloot LH; van Ravenswaaij CM J Med Genet; 2006 Apr; 43(4):306-14. PubMed ID: 16155193 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. Marcos S; Sarfati J; Leroy C; Fouveaut C; Parent P; Metz C; Wolczynski S; Gérard M; Bieth E; Kurtz F; Verier-Mine O; Perrin L; Archambeaud F; Cabrol S; Rodien P; Hove H; Prescott T; Lacombe D; Christin-Maitre S; Touraine P; Hieronimus S; Dewailly D; Young J; Pugeat M; Hardelin JP; Dodé C J Clin Endocrinol Metab; 2014 Oct; 99(10):E2138-43. PubMed ID: 25077900 [TBL] [Abstract][Full Text] [Related]
15. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. Sanlaville D; Etchevers HC; Gonzales M; Martinovic J; Clément-Ziza M; Delezoide AL; Aubry MC; Pelet A; Chemouny S; Cruaud C; Audollent S; Esculpavit C; Goudefroye G; Ozilou C; Fredouille C; Joye N; Morichon-Delvallez N; Dumez Y; Weissenbach J; Munnich A; Amiel J; Encha-Razavi F; Lyonnet S; Vekemans M; Attié-Bitach T J Med Genet; 2006 Mar; 43(3):211-217. PubMed ID: 16169932 [TBL] [Abstract][Full Text] [Related]
16. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. Pauli S; von Velsen N; Burfeind P; Steckel M; Mänz J; Buchholz A; Borozdin W; Kohlhase J Clin Genet; 2012 Mar; 81(3):234-9. PubMed ID: 21554267 [TBL] [Abstract][Full Text] [Related]
17. Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH. Kaliakatsos M; Giannakopoulos A; Fryssira H; Kanariou M; Skiathitou AV; Siahanidou T; Giannikou K; Makrythanasis P; Kanavakis E; Tzetis M J Hum Genet; 2010 Nov; 55(11):761-3. PubMed ID: 20686492 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Bergman JE; Janssen N; van der Sloot AM; de Walle HE; Schoots J; Rendtorff ND; Tranebjaerg L; Hoefsloot LH; van Ravenswaaij-Arts CM; Hofstra RM Hum Mutat; 2012 Aug; 33(8):1251-60. PubMed ID: 22539353 [TBL] [Abstract][Full Text] [Related]
20. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Legendre M; Gonzales M; Goudefroye G; Bilan F; Parisot P; Perez MJ; Bonnière M; Bessières B; Martinovic J; Delezoide AL; Jossic F; Fallet-Bianco C; Bucourt M; Tantau J; Loget P; Loeuillet L; Laurent N; Leroy B; Salhi H; Bigi N; Rouleau C; Guimiot F; Quélin C; Bazin A; Alby C; Ichkou A; Gesny R; Kitzis A; Ville Y; Lyonnet S; Razavi F; Gilbert-Dussardier B; Vekemans M; Attié-Bitach T J Med Genet; 2012 Nov; 49(11):698-707. PubMed ID: 23024289 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]