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Journal Abstract Search

220 related items for PubMed ID: 33025479

  • 1. Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.
    Lou G, Ke Y, Zhang Y, Liangjie G, Shama SA, Qi N, Qin L, Liao S, Zhao Y.
    J Mol Neurosci; 2021 May; 71(5):943-952. PubMed ID: 33025479
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  • 3. A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
    Koehler K, Schuelke M, Hell AK, Schittkowski M, Huebner A, Brockmann K.
    Am J Med Genet A; 2020 Mar; 182(3):570-575. PubMed ID: 31825161
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  • 4. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
    Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L.
    BMC Med Genet; 2017 Nov 17; 18(1):134. PubMed ID: 29149870
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  • 5. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
    Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K.
    Eur J Med Genet; 2020 Jan 17; 63(1):103610. PubMed ID: 30602132
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  • 7. Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.
    Alipour N, Salehpour S, Tonekaboni SH, Rostami M, Bahari S, Yassaee V, Miryounesi M, Ghafouri-Fard S.
    J Mol Neurosci; 2020 Jan 17; 70(1):21-25. PubMed ID: 31444703
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  • 8. Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome.
    Kaushik P, Mahajan N, Girimaji SC, Kumar A.
    J Mol Neurosci; 2020 Aug 17; 70(8):1225-1228. PubMed ID: 32170714
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  • 12. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
    Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L.
    BMC Med Genet; 2015 Jun 25; 16():41. PubMed ID: 26104215
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  • 16. [Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].
    Zhang W, Qi N, Guo L, Wang H, Gao Y, Hou Q, Lou G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug 10; 40(8):966-972. PubMed ID: 37532496
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  • 17. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
    Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC.
    J Biol Chem; 2011 Oct 28; 286(43):37665-75. PubMed ID: 21865173
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  • 19. Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome.
    Yang C, Hou M, Li Y, Sun D, Guo Y, Liu P, Liu Y, Song J, Zhang N, Wei W, Chen Z.
    Int J Dev Neurosci; 2018 Aug 28; 68():83-88. PubMed ID: 29758347
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