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Journal Abstract Search

129 related items for PubMed ID: 36134573

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  • 4. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature.
    Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X.
    BMC Med Genomics; 2018 Oct 23; 11(1):92. PubMed ID: 30352594
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  • 6. Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome.
    Yamada M, Uehara T, Suzuki H, Takenouchi T, Kosaki K.
    Am J Med Genet A; 2020 Nov 23; 182(11):2709-2714. PubMed ID: 32851780
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  • 8. Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.
    Miao M, Wang J, Guo C, Su X, Sun L, Lu S.
    Gene; 2024 Mar 01; 897():148092. PubMed ID: 38110042
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  • 15. Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
    Zhao JJ, Halvardson J, Zander CS, Zaghlool A, Georgii-Hemming P, Månsson E, Brandberg G, Sävmarker HE, Frykholm C, Kuchinskaya E, Thuresson AC, Feuk L.
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jan 01; 177(1):10-20. PubMed ID: 28990276
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  • 17. Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.
    Baum E, Huang W, Vincent-Delorme C, Brunelle P, Antebi A, Dafsari HS.
    Int J Mol Sci; 2024 Feb 08; 25(4):. PubMed ID: 38396730
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  • 18. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
    Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N.
    Am J Hum Genet; 2013 Nov 07; 93(5):798-811. PubMed ID: 24140112
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  • 19. Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
    Gu Y, Xiang B, Zhu L, Ma X, Chen X, Cai T.
    BMC Med Genet; 2020 May 11; 21(1):99. PubMed ID: 32393352
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