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Page 1
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R. Awamleh Z, et al. Among authors: nadif kasri n. Eur J Hum Genet. 2024 Mar;32(3):324-332. doi: 10.1038/s41431-024-01538-6. Epub 2024 Jan 29. Eur J Hum Genet. 2024. PMID: 38282074 Free PMC article.
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R. Awamleh Z, et al. Among authors: nadif kasri n. Eur J Hum Genet. 2024 Mar;32(3):366. doi: 10.1038/s41431-024-01561-7. Eur J Hum Genet. 2024. PMID: 38355964 Free PMC article. No abstract available.
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. Koolen DA, et al. Among authors: nadif kasri n. Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306646 Free PMC article.
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. Arbogast T, et al. Among authors: nadif kasri n. PLoS Genet. 2017 Jul 13;13(7):e1006886. doi: 10.1371/journal.pgen.1006886. eCollection 2017 Jul. PLoS Genet. 2017. PMID: 28704368 Free PMC article.
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. Linda K, et al. Among authors: nadif kasri n. Autophagy. 2022 Feb;18(2):423-442. doi: 10.1080/15548627.2021.1936777. Epub 2021 Jul 21. Autophagy. 2022. PMID: 34286667 Free PMC article.
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BB. Ba W, et al. Among authors: nadif kasri n. Hum Mol Genet. 2016 Mar 1;25(5):892-902. doi: 10.1093/hmg/ddv618. Epub 2015 Dec 31. Hum Mol Genet. 2016. PMID: 26721934 Free PMC article.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Teunissen MWA, Lewerissa E, van Hugte EJH, Wang S, Ockeloen CW, Koolen DA, Pfundt R, Marcelis CLM, Brilstra E, Howe JL, Scherer SW, Le Guillou X, Bilan F, Primiano M, Roohi J, Piton A, de Saint Martin A, Baer S, Seiffert S, Platzer K, Jamra RA, Syrbe S, Doering JH, Lakhani S, Nangia S, Gilissen C, Vermeulen RJ, Rouhl RPW, Brunner HG, Willemsen MH, Nadif Kasri N. Teunissen MWA, et al. Among authors: nadif kasri n. Hum Mol Genet. 2023 Jul 4;32(14):2373-2385. doi: 10.1093/hmg/ddad081. Hum Mol Genet. 2023. PMID: 37195288 Free PMC article.
Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons.
Klein Gunnewiek TM, Verboven AHA, Pelgrim I, Hogeweg M, Schoenmaker C, Renkema H, Beyrath J, Smeitink J, de Vries BBA, Hoen PAC', Kozicz T, Nadif Kasri N. Klein Gunnewiek TM, et al. Among authors: nadif kasri n. Stem Cell Reports. 2021 Sep 14;16(9):2197-2212. doi: 10.1016/j.stemcr.2021.07.002. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329596 Free PMC article.
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H. Iqbal Z, et al. Among authors: nadif kasri n. Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704603 Free PMC article.
78 results