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 *

214 related articles for article (PubMed ID: 29088513)

  • 21. Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.
    Yu T; Meiners LC; Danielsen K; Wong MT; Bowler T; Reinberg D; Scambler PJ; van Ravenswaaij-Arts CM; Basson MA
    Elife; 2013 Dec; 2():e01305. PubMed ID: 24368733
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Role of Chd7 in zebrafish: a model for CHARGE syndrome.
    Patten SA; Jacobs-McDaniels NL; Zaouter C; Drapeau P; Albertson RC; Moldovan F
    PLoS One; 2012; 7(2):e31650. PubMed ID: 22363697
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Sema3E is required for migration of cranial neural crest cells in zebrafish: Implications for the pathogenesis of CHARGE syndrome.
    Liu ZZ; Guo J; Lu Y; Liu W; Fu X; Yao T; Zhou Y; Xu HA
    Int J Exp Pathol; 2019 Aug; 100(4):234-243. PubMed ID: 31464029
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome.
    Cloney K; Steele SL; Stoyek MR; Croll RP; Smith FM; Prykhozhij SV; Brown MM; Midgen C; Blake K; Berman JN
    FEBS J; 2018 Jun; 285(11):2125-2140. PubMed ID: 29660852
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
    Layman WS; McEwen DP; Beyer LA; Lalani SR; Fernbach SD; Oh E; Swaroop A; Hegg CC; Raphael Y; Martens JR; Martin DM
    Hum Mol Genet; 2009 Jun; 18(11):1909-23. PubMed ID: 19279158
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
    Chen X; Yan K; Gao Y; Wang H; Chen G; Wu B; Qin Q; Yang L; Zhou W
    BMC Med Genet; 2019 May; 20(1):93. PubMed ID: 31146700
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.
    Balow SA; Pierce LX; Zentner GE; Conrad PA; Davis S; Sabaawy HE; McDermott BM; Scacheri PC
    Dev Biol; 2013 Oct; 382(1):57-69. PubMed ID: 23920116
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. 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]  

  • 35. 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]  

  • 36. Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors.
    Chai M; Sanosaka T; Okuno H; Zhou Z; Koya I; Banno S; Andoh-Noda T; Tabata Y; Shimamura R; Hayashi T; Ebisawa M; Sasagawa Y; Nikaido I; Okano H; Kohyama J
    Genes Dev; 2018 Jan; 32(2):165-180. PubMed ID: 29440260
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Generation of a human iPSC line (FDCHi009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C).
    Peng T; Cheng Y; Xiong M; Cheng G
    Stem Cell Res; 2023 Feb; 66():102996. PubMed ID: 36502621
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.
    Wells C; Loundon N; Garabedian N; Wiener-Vacher S; Cordier-Bouvier MD; Goudeffroye G; Attié-Bitach T; Marlin S
    Eur J Med Genet; 2016 Apr; 59(4):195-7. PubMed ID: 26921530
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
    Siavrienė E; Petraitytė G; Mikštienė V; Rančelis T; Maldžienė Ž; Morkūnienė A; Byčkova J; Utkus A; Kučinskas V; Preikšaitienė E
    BMC Med Genet; 2019 Jul; 20(1):127. PubMed ID: 31315586
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.