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Journal Abstract Search

164 related items for PubMed ID: 38282074

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  • 2. ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
    Awamleh Z, Choufani S, Cytrynbaum C, Alkuraya FS, Scherer S, Fernandes S, Rosas C, Louro P, Dias P, Neves MT, Sousa SB, Weksberg R.
    Hum Mol Genet; 2023 Apr 20; 32(9):1429-1438. PubMed ID: 36440975
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  • 5. 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 20; 24(5):652-9. PubMed ID: 26306646
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  • 9. Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
    Arbogast T, Iacono G, Chevalier C, Afinowi NO, Houbaert X, van Eede MC, Laliberte C, Birling MC, Linda K, Meziane H, Selloum M, Sorg T, Nadif Kasri N, Koolen DA, Stunnenberg HG, Henkelman RM, Kopanitsa M, Humeau Y, De Vries BBA, Herault Y.
    PLoS Genet; 2017 Jul 20; 13(7):e1006886. PubMed ID: 28704368
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  • 13. Koolen-de Vries syndrome associated with continuous spike-wave in sleep.
    Khan AQ, Coorg RK, Gill D, Marini C, Myers KA.
    Epileptic Disord; 2022 Oct 01; 24(5):928-933. PubMed ID: 35811432
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  • 14. Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
    Brand F, Vijayananth A, Hsieh TC, Schmidt A, Peters S, Mangold E, Cremer K, Bender T, Sivalingam S, Hundertmark H, Knaus A, Engels H, Krawitz PM, Perne C.
    Hum Mutat; 2022 Nov 01; 43(11):1659-1665. PubMed ID: 36104871
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  • 17.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Koolen DA, Morgan A, de Vries BBA.
    ; 1993 Nov 01. PubMed ID: 20301783
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  • 18. Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
    Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M.
    J Med Genet; 2022 Feb 01; 59(2):189-195. PubMed ID: 33361104
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  • 19. Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
    Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N.
    Autophagy; 2022 Feb 01; 18(2):423-442. PubMed ID: 34286667
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