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Journal Abstract Search

261 related items for PubMed ID: 28704368

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  • 2. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
    Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB.
    Eur J Hum Genet; 2016 May; 24(5):652-9. PubMed ID: 26306646
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  • 6. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
    Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G.
    Nat Genet; 2012 Apr 29; 44(6):636-8. PubMed ID: 22544367
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  • 8. Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
    Pascolini G, Gaudioso F, Fadda MT, Laino L, Ferraris A, Grammatico P.
    Am J Med Genet A; 2021 Mar 29; 185(3):978-981. PubMed ID: 33314579
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  • 14. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
    Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB.
    Nat Genet; 2012 Apr 29; 44(6):639-41. PubMed ID: 22544363
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  • 15. Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.
    Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M.
    Gene; 2012 Jan 15; 492(1):319-24. PubMed ID: 22037486
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