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 *

201 related articles for article (PubMed ID: 18089695)

  • 1. Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
    Asakura Y; Toyota Y; Muroya K; Kurosawa K; Fujita K; Aida N; Kawame H; Kosaki K; Adachi M
    J Clin Endocrinol Metab; 2008 Mar; 93(3):920-4. PubMed ID: 18089695
    [TBL] [Abstract][Full Text] [Related]  

  • 2. CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.
    Pinto G; Abadie V; Mesnage R; Blustajn J; Cabrol S; Amiel J; Hertz-Pannier L; Bertrand AM; Lyonnet S; Rappaport R; Netchine I
    J Clin Endocrinol Metab; 2005 Oct; 90(10):5621-6. PubMed ID: 16030162
    [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]  

  • 4. CHARGE syndrome: an update.
    Sanlaville D; Verloes A
    Eur J Hum Genet; 2007 Apr; 15(4):389-99. PubMed ID: 17299439
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome.
    Adams ME; Hurd EA; Beyer LA; Swiderski DL; Raphael Y; Martin DM
    J Comp Neurol; 2007 Oct; 504(5):519-32. PubMed ID: 17701983
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
    Aramaki M; Udaka T; Kosaki R; Makita Y; Okamoto N; Yoshihashi H; Oki H; Nanao K; Moriyama N; Oku S; Hasegawa T; Takahashi T; Fukushima Y; Kawame H; Kosaki K
    J Pediatr; 2006 Mar; 148(3):410-4. PubMed ID: 16615981
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
    Jyonouchi S; McDonald-McGinn DM; Bale S; Zackai EH; Sullivan KE
    Pediatrics; 2009 May; 123(5):e871-7. PubMed ID: 19403480
    [TBL] [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. Radial aplasia in CHARGE syndrome: a new association.
    Wright EM; O'Connor R; Kerr BA
    Eur J Med Genet; 2009; 52(4):239-41. PubMed ID: 19375527
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Abnormal basiocciput development in CHARGE syndrome.
    Fujita K; Aida N; Asakura Y; Kurosawa K; Niwa T; Muroya K; Adachi M; Nishimura G; Inoue T
    AJNR Am J Neuroradiol; 2009 Mar; 30(3):629-34. PubMed ID: 19112063
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Immunological abnormalities in CHARGE syndrome.
    Writzl K; Cale CM; Pierce CM; Wilson LC; Hennekam RC
    Eur J Med Genet; 2007; 50(5):338-45. PubMed ID: 17684005
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. CHARGE syndrome.
    Blake KD; Prasad C
    Orphanet J Rare Dis; 2006 Sep; 1():34. PubMed ID: 16959034
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
    Legendre M; Abadie V; Attié-Bitach T; Philip N; Busa T; Bonneau D; Colin E; Dollfus H; Lacombe D; Toutain A; Blesson S; Julia S; Martin-Coignard D; Geneviève D; Leheup B; Odent S; Jouk PS; Mercier S; Faivre L; Vincent-Delorme C; Francannet C; Naudion S; Mathieu-Dramard M; Delrue MA; Goldenberg A; Héron D; Parent P; Touraine R; Layet V; Sanlaville D; Quélin C; Moutton S; Fradin M; Jacquette A; Sigaudy S; Pinson L; Sarda P; Guerrot AM; Rossi M; Masurel-Paulet A; El Chehadeh S; Piguel X; Rodriguez-Ballesteros M; Ragot S; Lyonnet S; Bilan F; Gilbert-Dussardier B
    Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):417-430. PubMed ID: 29178447
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.
    Glueckert R; Rask-Andersen H; Sergi C; Schmutzhard J; Mueller B; Beckmann F; Rittinger O; Hoefsloot LH; Schrott-Fischer A; Janecke AR
    Am J Med Genet A; 2010 Mar; 152A(3):665-73. PubMed ID: 20186814
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.