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378 related items for PubMed ID: 31315586

  • 1. 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 17; 20(1):127. PubMed ID: 31315586
    [Abstract] [Full Text] [Related]

  • 2. De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome.
    Wang S, Lin Y, Liang P, Li Q, Li W, Wang Z, Wang J, Chen J, Zha D.
    ORL J Otorhinolaryngol Relat Spec; 2022 Jul 17; 84(5):417-424. PubMed ID: 35078197
    [Abstract] [Full Text] [Related]

  • 3. 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, Undiagnosed Diseases Network.
    Am J Med Genet A; 2021 Feb 17; 185(2):544-548. PubMed ID: 33184947
    [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 01; 576(2 Pt 2):776-81. PubMed ID: 26551301
    [Abstract] [Full Text] [Related]

  • 5. An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.
    Ogier JM, Arhatari BD, Carpinelli MR, McColl BK, Wilson MA, Burt RA.
    Sci Rep; 2018 Apr 03; 8(1):5482. PubMed ID: 29615807
    [Abstract] [Full Text] [Related]

  • 6. 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 03; 59(4):195-7. PubMed ID: 26921530
    [Abstract] [Full Text] [Related]

  • 7. Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.
    Boschann F, Kosmehl S, Bloching M, Grünhagen J, Hildebrand G, Horn D, Lyutenski S.
    Am J Med Genet A; 2023 Apr 03; 191(4):1128-1132. PubMed ID: 36708132
    [Abstract] [Full Text] [Related]

  • 8. 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 03; 99(10):E2138-43. PubMed ID: 25077900
    [Abstract] [Full Text] [Related]

  • 9. 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 30; 20(1):93. PubMed ID: 31146700
    [Abstract] [Full Text] [Related]

  • 10. 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 30; 74(12):1441-4. PubMed ID: 20943277
    [Abstract] [Full Text] [Related]

  • 11. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
    Hale CL, Niederriter AN, Green GE, Martin DM.
    Am J Med Genet A; 2016 Feb 30; 170A(2):344-354. PubMed ID: 26590800
    [Abstract] [Full Text] [Related]

  • 12. 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 30; 35(1):141-5. PubMed ID: 25553296
    [Abstract] [Full Text] [Related]

  • 13. 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 30; 78(2):303-14. PubMed ID: 16400610
    [Abstract] [Full Text] [Related]

  • 14. CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.
    Song MH, Cho HJ, Lee HK, Kwon TJ, Lee WS, Oh S, Bok J, Choi JY, Kim UK.
    PLoS One; 2011 Feb 30; 6(9):e24511. PubMed ID: 21931733
    [Abstract] [Full Text] [Related]

  • 15. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep 30; 35(8):1466-70. PubMed ID: 24979395
    [Abstract] [Full Text] [Related]

  • 16. Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.
    Lv Y, Gu J, Qiu H, Li H, Zhang Z, Yin S, Mao Y, Kong L, Liang B, Jiang H, Liu C.
    Mol Genet Genomic Med; 2019 Nov 30; 7(11):e967. PubMed ID: 31478598
    [Abstract] [Full Text] [Related]

  • 17. 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 30; 175(4):417-430. PubMed ID: 29178447
    [Abstract] [Full Text] [Related]

  • 18. Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report.
    Ganaha A, Tono T, Kaname T, Yanagi K, Higa T, Kondo S, Maeda H, Suzuki M.
    Otol Neurotol; 2017 Aug 30; 38(7):990-995. PubMed ID: 28609304
    [Abstract] [Full Text] [Related]

  • 19. A novel CHD7 variant in a chinese family with CHARGE syndrome.
    Shan Y, Yao L, Li L, Gao X, Jiang J.
    Genes Genomics; 2024 Mar 30; 46(3):379-387. PubMed ID: 37273125
    [Abstract] [Full Text] [Related]

  • 20. 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 25; 571(2):298-302. PubMed ID: 26187070
    [Abstract] [Full Text] [Related]

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