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PUBMED FOR HANDHELDS

Journal Abstract Search

323 related items for PubMed ID: 32505691

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  • 3. 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; 63(1):103610. PubMed ID: 30602132
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  • 4. 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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  • 5. 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; 70(8):1225-1228. PubMed ID: 32170714
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  • 6. 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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  • 12. Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.
    Zhao S, Luo Z, Xiao Z, Li L, Zhao R, Yang Y, Zhong Y.
    BMC Med Genet; 2019 Nov 21; 20(1):187. PubMed ID: 31752730
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  • 14. 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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  • 15. Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
    Nasser F, Kurtenbach A, Biskup S, Weidensee S, Kohl S, Zrenner E.
    Acta Ophthalmol; 2020 May 28; 98(3):e316-e321. PubMed ID: 31580008
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  • 17. Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
    Duplomb L, Rivière J, Jego G, Da Costa R, Hammann A, Racine J, Schmitt A, Droin N, Capron C, Gougerot-Pocidalo MA, Dubrez L, Aral B, Lafon A, Edery P, Ghoumid J, Blair E, El Chehadeh-Djebbar S, Carmignac V, Thevenon J, Guy J, Girodon F, Bastie JN, Delva L, Faivre L, Thauvin-Robinet C, Solary E.
    J Mol Med (Berl); 2019 May 28; 97(5):633-645. PubMed ID: 30843084
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  • 18. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
    Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.
    Clin Exp Ophthalmol; 2015 Mar 28; 43(2):132-8. PubMed ID: 25060287
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  • 19. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
    Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F.
    Eur J Hum Genet; 2010 Oct 28; 18(10):1133-40. PubMed ID: 20461111
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