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Journal Abstract Search

143 related items for PubMed ID: 28960266

  • 1. Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
    Lebrun N, Parent P, Gendras J, Billuart P, Poirier K, Bienvenu T.
    Clin Genet; 2017 Dec; 92(6):669-670. PubMed ID: 28960266
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  • 5. Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
    Nemirovsky SI, Córdoba M, Zaiat JJ, Completa SP, Vega PA, González-Morón D, Medina NM, Fabbro M, Romero S, Brun B, Revale S, Ogara MF, Pecci A, Marti M, Vazquez M, Turjanski A, Kauffman MA.
    PLoS One; 2015 Dec; 10(2):e0116358. PubMed ID: 25646853
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  • 7. Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
    Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, des Portes V, Lemke JR, Sanlaville D, Lesca G.
    Eur J Hum Genet; 2017 Feb; 25(3):376-380. PubMed ID: 28051072
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  • 8. Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
    Reis VN, Kitajima JP, Tahira AC, Feio-Dos-Santos AC, Fock RA, Lisboa BC, Simões SN, Krepischi AC, Rosenberg C, Lourenço NC, Passos-Bueno MR, Brentani H.
    PLoS One; 2017 Feb; 12(1):e0170386. PubMed ID: 28118382
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  • 9. Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.
    van der Werf IM, Van Dijck A, Reyniers E, Helsmoortel C, Kumar AA, Kalscheuer VM, de Brouwer AP, Kleefstra T, van Bokhoven H, Mortier G, Janssens S, Vandeweyer G, Kooy RF.
    Gene; 2017 Mar 20; 605():92-98. PubMed ID: 27993705
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  • 10. The Contribution of Mosaic Variants to Autism Spectrum Disorder.
    Freed D, Pevsner J.
    PLoS Genet; 2016 Sep 20; 12(9):e1006245. PubMed ID: 27632392
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  • 11. Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission.
    Pan N, Chen S, Cai X, Li J, Yu T, Huang HF, Zhang J, Xu C.
    Mol Genet Genomic Med; 2021 Sep 20; 9(9):e1763. PubMed ID: 34296532
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  • 12. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
    Kharrat M, Triki C, Ben Isaa A, Bouchaala W, Alila O, Chouchen J, Ghouliya Y, Kamoun F, Tlili A, Fakhfakh F.
    J Hum Genet; 2024 Jul 20; 69(7):291-299. PubMed ID: 38467738
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  • 13. A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.
    Barington M, Risom L, Ek J, Uldall P, Ostergaard E.
    Eur J Hum Genet; 2018 Sep 20; 26(9):1388-1391. PubMed ID: 29795476
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  • 14. Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
    Jongmans MC, Hoefsloot LH, van der Donk KP, Admiraal RJ, Magee A, van de Laar I, Hendriks Y, Verheij JB, Walpole I, Brunner HG, van Ravenswaaij CM.
    Am J Med Genet A; 2008 Jan 01; 146A(1):43-50. PubMed ID: 18074359
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  • 15. MED13L-related intellectual disability due to paternal germinal mosaicism.
    Bessenyei B, Balogh I, Mokánszki A, Ujfalusi A, Pfundt R, Szakszon K.
    Cold Spring Harb Mol Case Stud; 2022 Jan 01; 8(1):. PubMed ID: 34654706
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  • 16. Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children.
    Wang J, Liu J, Gao Y, Wang K, Jiang K.
    BMC Pediatr; 2018 Oct 30; 18(1):338. PubMed ID: 30376831
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  • 17. Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.
    Alvarez-Mora MI, Corominas J, Gilissen C, Sanchez A, Madrigal I, Rodriguez-Revenga L.
    Genes (Basel); 2021 Apr 12; 12(4):. PubMed ID: 33921338
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  • 18. Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
    Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, Rivière JB, Fombonne E, O'Roak BJ.
    Am J Hum Genet; 2017 Sep 07; 101(3):369-390. PubMed ID: 28867142
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  • 19. The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family.
    Orrico A, Galli L, Rossi M, Cortesi A, Mazzi M, Caterino E.
    Neuropediatrics; 2021 Apr 07; 52(2):138-141. PubMed ID: 33374027
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  • 20. Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.
    Johnson TB, Mechels K, Anderson RH, Cain JT, Sturdevant DA, Braddock S, Pinz H, Wilson MA, Landsverk M, Roux KJ, Weimer JM.
    Sci Rep; 2018 Nov 01; 8(1):16161. PubMed ID: 30385778
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