1 | DEL5Q14, MEF2C
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| The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
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| Zweier M, Rauch A.
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| Mol Syndromol 2(3-5):164-170. Epub 2012 Apr 16.
2012
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2 | DEL5Q14, MEF2C
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| Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less.
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| Tonk V, Kyhm JH, Gibson CE, Wilson GN.
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| Am J Med Genet A 155(6):1437-41. doi: 10.1002/ajmg.a.34012. Epub 2011 May 12.
2011
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3 | DEL5Q14, MEF2C
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| De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
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| Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matasumoto N.
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| Am J Med Genet A 155(11):2879-84. doi: 10.1002/ajmg.a.34289. Epub 2011 Oct 11.
2011
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4 | CPLM, DEL5Q14, MEF2C, RASA1
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| 5q14.3 neurocutaneous syndrome: a novel contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
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| Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA.
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| Am J Med Genet A 155A(7):1640-5. doi: 10.1002/ajmg.a.34059. Epub 2011 May 27. 2011
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5 | DEL5Q14, MEF2C
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| MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
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| Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D.
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| J Med Genet 47(1):22-9. Epub 2009 Jul 9.
2010
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6 | DEL5Q14, MEF2C
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| Refining the phenotype associated with MEF2C haploinsufficiency.
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| Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Bernardina BD, Zuffardi O, Van Esch H.
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| Clin Genet lin Genet. 2010 Apr 14. [Epub ahead of print]PMID: 20412115 2010
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7 | DEL5Q14, MEF2C
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| Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
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| Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P.
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| Am J Med Genet B Neuropsychiatr Genet m J Med Genet B Neuropsychiatr Genet. 2010 Mar 23. [Epub ahead of print]PMID: 20333642 2010
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8 | DEL5Q14, MEF2C
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| Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
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| Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV; Cornelia Kraus, Ekici AB, Reis A, Rauch A.
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| Hum Mutat 31(6):722-33.
2010
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9 | DEL5Q14
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| Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
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| Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R.
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| Neurology 72(9):784-92. Epub 2008 Dec 10.
2009
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10 | DEL5Q14
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| Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
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| Sobreira N, Walsh MF, Batista D, Wang T.
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| Am J Med Genet A 149A(11):2581-3. No abstract available.
2009
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11 | ADGRV1, CETN3, DEL5Q14, LYSMD3, POLR3G
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| A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
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| Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A.
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| Eur J Hum Genet 17(12):1592-9. Epub 2009 May 27. 2009
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