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ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M. Yates TM, et al. Among authors: sival da. Hum Mutat. 2020 May;41(5):1042-1050. doi: 10.1002/humu.24001. Epub 2020 Mar 5. Hum Mutat. 2020. PMID: 32097528 Free article.
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Wijnen IGM, Veenstra-Knol HE, Vansenne F, Gerkes EH, de Koning T, Vos YJ, Tijssen MAJ, Sival D, Darin N, Vanhoutte EK, Oosterloo M, Pennings M, van de Warrenburg BP, Kamsteeg EJ. Wijnen IGM, et al. Eur J Hum Genet. 2020 Jun;28(6):763-769. doi: 10.1038/s41431-020-0600-5. Epub 2020 Mar 10. Eur J Hum Genet. 2020. PMID: 32157189 Free PMC article.
De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
Powis Z, Petrik I, Cohen JS, Escolar D, Burton J, van Ravenswaaij-Arts CMA, Sival DA, Stegmann APA, Kleefstra T, Pfundt R, Chikarmane R, Begtrup A, Huether R, Tang S, Shinde DN. Powis Z, et al. Among authors: sival da. Clin Genet. 2018 May;93(5):1030-1038. doi: 10.1111/cge.13198. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29251763
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.
van Egmond ME, Kuiper A, Eggink H, Sinke RJ, Brouwer OF, Verschuuren-Bemelmans CC, Sival DA, Tijssen MA, de Koning TJ. van Egmond ME, et al. Among authors: sival da. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81. doi: 10.1136/jnnp-2014-309106. Epub 2014 Nov 13. J Neurol Neurosurg Psychiatry. 2015. PMID: 25395479 Review.
Reliability of phenotypic early-onset ataxia assessment: a pilot study.
Lawerman TF, Brandsma R, van Geffen JT, Lunsing RJ, Burger H, Tijssen MA, de Vries JJ, de Koning TJ, Sival DA. Lawerman TF, et al. Among authors: sival da. Dev Med Child Neurol. 2016 Jan;58(1):70-6. doi: 10.1111/dmcn.12804. Epub 2015 May 21. Dev Med Child Neurol. 2016. PMID: 25995073 Free article.
102 results