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.
339 related articles for article (PubMed ID: 20453063)
1. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Batsukh T; Pieper L; Koszucka AM; von Velsen N; Hoyer-Fender S; Elbracht M; Bergman JE; Hoefsloot LH; Pauli S Hum Mol Genet; 2010 Jul; 19(14):2858-66. PubMed ID: 20453063 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
7. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. Batsukh T; Schulz Y; Wolf S; Rabe TI; Oellerich T; Urlaub H; Schaefer IM; Pauli S PLoS One; 2012; 7(12):e52640. PubMed ID: 23285124 [TBL] [Abstract][Full Text] [Related]
9. New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene. Holak HM; Kohlhase J; Holak SA; Holak NH Ophthalmic Genet; 2008 Jun; 29(2):79-84. PubMed ID: 18484313 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Wincent J; Schulze A; Schoumans J Eur J Med Genet; 2009; 52(4):271-2. PubMed ID: 19248844 [TBL] [Abstract][Full Text] [Related]