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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

299 related articles for article (PubMed ID: 26334530)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
    Lee B; Duz MB; Sagong B; Koparir A; Lee KY; Choi JY; Seven M; Yuksel A; Kim UK; Ozen M
    Gene; 2016 Feb; 576(2 Pt 2):776-81. PubMed ID: 26551301
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 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. 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]  

  • 8. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE; Huq FS; Emery SB; Mukherji SK; Martin DM
    Otol Neurotol; 2014 Sep; 35(8):1466-70. PubMed ID: 24979395
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
    Cappuccio G; Ginocchio VM; Maffè A; Ungari S; Andria G; Melis D
    Clin Genet; 2014 Feb; 85(2):201-2. PubMed ID: 23495722
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
    Aksel Kılıçarslan Ö; Ataman E; Gürsoy S; Hazan F; Randa C; Çankaya T; Erçal D; Ülgenalp A; Giray Bozkaya Ö
    Turk J Med Sci; 2018 Oct; 48(5):911-915. PubMed ID: 30384553
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
    Wincent J; Holmberg E; Strömland K; Soller M; Mirzaei L; Djureinovic T; Robinson K; Anderlid B; Schoumans J
    Clin Genet; 2008 Jul; 74(1):31-8. PubMed ID: 18445044
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 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. Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.
    Bilan F; Legendre M; Charraud V; Manière B; Couet D; Gilbert-Dussardier B; Kitzis A
    J Mol Diagn; 2012 Jan; 14(1):46-55. PubMed ID: 22033296
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
    Lalani SR; Safiullah AM; Fernbach SD; Harutyunyan KG; Thaller C; Peterson LE; McPherson JD; Gibbs RA; White LD; Hefner M; Davenport SL; Graham JM; Bacino CA; Glass NL; Towbin JA; Craigen WJ; Neish SR; Lin AE; Belmont JW
    Am J Hum Genet; 2006 Feb; 78(2):303-14. PubMed ID: 16400610
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
    Colin E; Bonneau D; Boussion F; Guichet A; Delorme B; Triau S; Gillard P; Kitzis A; Bilan F
    Prenat Diagn; 2012 Jul; 32(7):692-4. PubMed ID: 22517486
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.