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Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
Am J Hum Genet. 2005 Feb;76(2):227-36. doi: 10.1086/427563. Epub 2004 Dec 7.
Am J Hum Genet. 2005.
PMID: 15586325
Free PMC article.
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE.
Abidi FE, et al.
J Med Genet. 2008 Dec;45(12):787-93. doi: 10.1136/jmg.2008.058990. Epub 2008 Aug 12.
J Med Genet. 2008.
PMID: 18697827
Free PMC article.
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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
Rujirabanjerd S, Nelson J, Tarpey PS, Hackett A, Edkins S, Raymond FL, Schwartz CE, Turner G, Iwase S, Shi Y, Futreal PA, Stratton MR, Gecz J.
Rujirabanjerd S, et al.
Eur J Hum Genet. 2010 Mar;18(3):330-5. doi: 10.1038/ejhg.2009.175. Epub 2009 Oct 14.
Eur J Hum Genet. 2010.
PMID: 19826449
Free PMC article.
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A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.
Santos-Rebouças CB, Fintelman-Rodrigues N, Jensen LR, Kuss AW, Ribeiro MG, Campos M Jr, Santos JM, Pimentel MM.
Santos-Rebouças CB, et al.
Neurosci Lett. 2011 Jul 1;498(1):67-71. doi: 10.1016/j.neulet.2011.04.065. Epub 2011 May 6.
Neurosci Lett. 2011.
PMID: 21575681
Free article.
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DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M.
Guerra JVS, et al.
Eur J Med Genet. 2020 Mar;63(3):103737. doi: 10.1016/j.ejmg.2019.103737. Epub 2019 Aug 13.
Eur J Med Genet. 2020.
PMID: 31419599
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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B.
Levy MA, et al.
Hum Mutat. 2022 Nov;43(11):1609-1628. doi: 10.1002/humu.24446. Epub 2022 Aug 21.
Hum Mutat. 2022.
PMID: 35904121
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