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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

273 related items for PubMed ID: 36182950

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  • 2. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
    Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R.
    Clin Epigenetics; 2019 Jul 16; 11(1):103. PubMed ID: 31311581
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  • 4. A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
    Yasin H, Gibson WT, Langlois S, Stowe RM, Tsang ES, Lee L, Poon J, Tran G, Tyson C, Wong CK, Marra MA, Friedman JM, Zahir FR.
    J Hum Genet; 2019 Apr 16; 64(4):271-280. PubMed ID: 30670789
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  • 9. The clinical presentation caused by truncating CHD8 variants.
    Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S, Deciphering Developmental Disorders StudyWellcome Sanger Institute, Cambridge, UK., Banka S.
    Clin Genet; 2019 Jul 16; 96(1):72-84. PubMed ID: 31001818
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  • 12. Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
    Wu H, Li H, Bai T, Han L, Ou J, Xun G, Zhang Y, Wang Y, Duan G, Zhao N, Chen B, Du X, Yao M, Zou X, Zhao J, Hu Z, Eichler EE, Guo H, Xia K.
    Clin Genet; 2020 Feb 16; 97(2):338-346. PubMed ID: 31674007
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  • 18. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
    Sorrentino U, Boesch S, Doummar D, Ravelli C, Serranova T, Indelicato E, Winkelmann J, Burglen L, Jech R, Zech M.
    J Neurol; 2024 May 16; 271(5):2859-2865. PubMed ID: 38441608
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  • 19. Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
    Smyk M, Poluha A, Jaszczuk I, Bartnik M, Bernaciak J, Nowakowska B.
    Am J Med Genet A; 2016 May 16; 170A(5):1325-9. PubMed ID: 26834018
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