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Journal Abstract Search

165 related items for PubMed ID: 32126561

  • 1. A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
    Kim HH, Kim AR, Kim NKD, Ahn SY, Sung SI, Park WS, Lee C, Chang YS, Park WY.
    Neonatology; 2020; 117(3):374-379. PubMed ID: 32126561
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  • 2. 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; 185(2):544-548. PubMed ID: 33184947
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  • 5. 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; 46(3):379-387. PubMed ID: 37273125
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  • 6. 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
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  • 7. Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.
    Xu YP, Shi LP, Zhu J.
    BMC Pediatr; 2018 Jun 26; 18(1):203. PubMed ID: 29945602
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  • 9. 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 26; 74(12):1441-4. PubMed ID: 20943277
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  • 13. Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.
    Bai T, Shen Y, Yang Y, Dai S, Liu H.
    Am J Med Genet A; 2024 Apr 26; 194(4):e63491. PubMed ID: 38057991
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  • 15. 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 26; 175(4):417-430. PubMed ID: 29178447
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  • 17. CHARGE syndrome and CHD7 gene mutation.
    de Arriba Muñoz A, Monge Galindo L, López Pisón J, Lafuente Hidalgo M, Pérez Delgado R, Domínguez Cajal M, Rebage V.
    Neurologia; 2011 May 26; 26(4):255. PubMed ID: 21196067
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  • 20. 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 May 26; 6(9):e24511. PubMed ID: 21931733
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