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PUBMED FOR HANDHELDS

Journal Abstract Search


521 related items for PubMed ID: 25646853

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  • 23. Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.
    Dou Y, Yang X, Li Z, Wang S, Zhang Z, Ye AY, Yan L, Yang C, Wu Q, Li J, Zhao B, Huang AY, Wei L.
    Hum Mutat; 2017 Aug; 38(8):1002-1013. PubMed ID: 28503910
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  • 24. Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
    Callaghan DB, Rogic S, Tan PPC, Calli K, Qiao Y, Baldwin R, Jacobson M, Belmadani M, Holmes N, Yu C, Li Y, Li Y, Kurtzke FE, Kuzeljevic B, Yu AY, Hudson M, Mcaughton AJM, Xu Y, Dionne-Laporte A, Girard S, Liang P, Separovic ER, Liu X, Rouleau G, Pavlidis P, Lewis MES.
    Clin Genet; 2019 Sep; 96(3):199-206. PubMed ID: 31038196
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  • 25. Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder.
    Wang Y, Picard M, Gu Z.
    PLoS Genet; 2016 Oct; 12(10):e1006391. PubMed ID: 27792786
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  • 26. An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.
    Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL, Zoghbi HY.
    Mol Psychiatry; 2020 Oct; 25(10):2534-2555. PubMed ID: 30610205
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  • 27. [Autism spectrum disorder/development delay in siblings with SCN2A mutations caused by germline mosaicism].
    Zhang P, Gao Z, Jia J, Chen Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov 10; 38(11):1097-1100. PubMed ID: 34729751
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  • 28. 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 10; 25(3):376-380. PubMed ID: 28051072
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  • 29. Contribution of SHANK3 mutations to autism spectrum disorder.
    Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW.
    Am J Hum Genet; 2007 Dec 10; 81(6):1289-97. PubMed ID: 17999366
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  • 30. Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.
    D'Abate L, Walker S, Yuen RKC, Tammimies K, Buchanan JA, Davies RW, Thiruvahindrapuram B, Wei J, Brian J, Bryson SE, Dobkins K, Howe J, Landa R, Leef J, Messinger D, Ozonoff S, Smith IM, Stone WL, Warren ZE, Young G, Zwaigenbaum L, Scherer SW.
    Nat Commun; 2019 Dec 05; 10(1):5519. PubMed ID: 31801954
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  • 32. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.
    Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE.
    Orphanet J Rare Dis; 2015 Aug 27; 10():105. PubMed ID: 26306707
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  • 35. A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder.
    Huang J, Liu J, Tian R, Liu K, Zhuang P, Sherman HT, Budjan C, Fong M, Jeong MS, Kong XJ.
    Cells; 2021 Dec 21; 11(1):. PubMed ID: 35011571
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  • 38. Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.
    Rahman MM, Uddin KF, Al Jezawi NK, Karuvantevida N, Akter H, Dity NJ, Rahaman MA, Begum M, Rahaman MA, Baqui MA, Salwa Z, Islam S, Woodbury-Smith M, Basiruzzaman M, Uddin M.
    Mol Genet Genomic Med; 2019 Oct 21; 7(10):e00954. PubMed ID: 31475484
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