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Items: 1 to 20 of 29

1.

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.

Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177.

PMID:
22031302
2.

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.

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.

Am J Med Genet A. 2011 Nov;155A(11):2879-84. doi: 10.1002/ajmg.a.34289. Epub 2011 Oct 11.

PMID:
21990267
3.

5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.

Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA.

Am J Med Genet A. 2011 Jul;155A(7):1640-5. doi: 10.1002/ajmg.a.34059. Epub 2011 May 27.

PMID:
21626678
4.

Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less.

Tonk V, Kyhm JH, Gibson CE, Wilson GN.

Am J Med Genet A. 2011 Jun;155A(6):1437-41. doi: 10.1002/ajmg.a.34012. Epub 2011 May 12.

PMID:
21567930
5.

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.

Berland S, Houge G.

Clin Dysmorphol. 2010 Oct;19(4):222-4. doi: 10.1097/MCD.0b013e32833dc589. No abstract available.

PMID:
20729728
6.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

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.

Hum Mutat. 2010 Jun;31(6):722-33. doi: 10.1002/humu.21253.

PMID:
20513142
7.

Fragile X mental retardation protein is required for synapse elimination by the activity-dependent transcription factor MEF2.

Pfeiffer BE, Zang T, Wilkerson JR, Taniguchi M, Maksimova MA, Smith LN, Cowan CW, Huber KM.

Neuron. 2010 Apr 29;66(2):191-7. doi: 10.1016/j.neuron.2010.03.017.

8.

Refining the phenotype associated with MEF2C haploinsufficiency.

Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Dalla Bernardina B, Zuffardi O, Van Esch H.

Clin Genet. 2010 Nov;78(5):471-7. doi: 10.1111/j.1399-0004.2010.01413.x.

PMID:
20412115
9.

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

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.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):1042-51. doi: 10.1002/ajmg.b.31071.

PMID:
20333642
10.

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.

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.

J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9.

11.

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

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.

Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 27.

12.

Regulation of lymphoid versus myeloid fate 'choice' by the transcription factor Mef2c.

Stehling-Sun S, Dade J, Nutt SL, DeKoter RP, Camargo FD.

Nat Immunol. 2009 Mar;10(3):289-96. doi: 10.1038/ni.1694. Epub 2009 Jan 25.

PMID:
19169261
13.

Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection.

Flavell SW, Kim TK, Gray JM, Harmin DA, Hemberg M, Hong EJ, Markenscoff-Papadimitriou E, Bear DM, Greenberg ME.

Neuron. 2008 Dec 26;60(6):1022-38. doi: 10.1016/j.neuron.2008.11.029.

14.

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

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.

Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10.

PMID:
19073947
15.

Identifying autism loci and genes by tracing recent shared ancestry.

Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA.

Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657. Erratum in: Science. 2010 Dec 24;330(6012):1746.

16.

MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function.

Barbosa AC, Kim MS, Ertunc M, Adachi M, Nelson ED, McAnally J, Richardson JA, Kavalali ET, Monteggia LM, Bassel-Duby R, Olson EN.

Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9391-6. doi: 10.1073/pnas.0802679105. Epub 2008 Jul 1.

17.

Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo.

Li H, Radford JC, Ragusa MJ, Shea KL, McKercher SR, Zaremba JD, Soussou W, Nie Z, Kang YJ, Nakanishi N, Okamoto S, Roberts AJ, Schwarz JJ, Lipton SA.

Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9397-402. doi: 10.1073/pnas.0802876105. Epub 2008 Jul 1.

18.

Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells.

Li Z, McKercher SR, Cui J, Nie Z, Soussou W, Roberts AJ, Sallmen T, Lipton JH, Talantova M, Okamoto S, Lipton SA.

J Neurosci. 2008 Jun 25;28(26):6557-68. doi: 10.1523/JNEUROSCI.0134-08.2008.

19.

MeCP2, a key contributor to neurological disease, activates and represses transcription.

Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY.

Science. 2008 May 30;320(5880):1224-9. doi: 10.1126/science.1153252.

20.

MEF2: a central regulator of diverse developmental programs.

Potthoff MJ, Olson EN.

Development. 2007 Dec;134(23):4131-40. Epub 2007 Oct 24. Review.

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