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Items: 1 to 20 of 108

1.

Microdeletion 5q14.3 and anomalies of brain development.

Hotz A, Hellenbroich Y, Sperner J, Linder-Lucht M, Tacke U, Walter C, Caliebe A, Nagel I, Saunders DE, Wolff G, Martin P, Morris-Rosendahl DJ.

Am J Med Genet A. 2013 Sep;161A(9):2124-33. doi: 10.1002/ajmg.a.36020. Epub 2013 Jul 4.

PMID:
23824879
2.

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
3.

De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum.

Shimojima K, Okumura A, Mori H, Abe S, Ikeno M, Shimizu T, Yamamoto T.

Am J Med Genet A. 2012 Sep;158A(9):2272-6. doi: 10.1002/ajmg.a.35490. Epub 2012 Jul 27.

PMID:
22848023
4.

MEF2C deletions and mutations versus duplications: a clinical comparison.

Novara F, Rizzo A, Bedini G, Girgenti V, Esposito S, Pantaleoni C, Ciccone R, Sciacca FL, Achille V, Della Mina E, Gana S, Zuffardi O, Estienne M.

Eur J Med Genet. 2013 May;56(5):260-5. doi: 10.1016/j.ejmg.2013.01.011. Epub 2013 Feb 10.

PMID:
23402836
5.

Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.

Tanteles GA, Alexandrou A, Evangelidou P, Gavatha M, Anastasiadou V, Sismani C.

Am J Med Genet A. 2015 Mar;167A(3):664-9. doi: 10.1002/ajmg.a.36945. Review.

PMID:
25691421
6.

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
7.

Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.

Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T.

Eur J Med Genet. 2013 Sep;56(9):475-83. doi: 10.1016/j.ejmg.2013.06.009. Epub 2013 Jul 5.

PMID:
23832106
8.

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

Cesaretti C, Spaccini L, Righini A, Parazzini C, Conte G, Crosti F, Redaelli S, Bulfamante G, Avagliano L, Rustico M.

Am J Med Genet A. 2016 May;170A(5):1352-7. doi: 10.1002/ajmg.a.37594. Epub 2016 Feb 10.

PMID:
26864752
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.

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.

11.

The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.

Zweier M, Rauch A.

Mol Syndromol. 2012 Apr;2(3-5):164-170. Epub 2012 Apr 16.

12.

5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.

Ilari R, Agosta G, Bacino C.

Am J Med Genet A. 2016 Mar;170(3):688-93. doi: 10.1002/ajmg.a.37472. Epub 2016 Jan 15.

PMID:
26774077
13.

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

Rocha H, Sampaio M, Rocha R, Fernandes S, Leão M.

Eur J Med Genet. 2016 Sep;59(9):478-82. doi: 10.1016/j.ejmg.2016.05.017. Epub 2016 May 31. Review.

PMID:
27255693
14.

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
15.

Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding.

Al-Shehhi M, Betts D, Mc Ardle L, Donoghue V, Reardon W.

Clin Dysmorphol. 2016 Jan;25(1):23-6. doi: 10.1097/MCD.0000000000000102. No abstract available.

PMID:
26426104
16.

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z.

Am J Med Genet A. 2013 Oct;161A(10):2604-8. doi: 10.1002/ajmg.a.36108. Epub 2013 Aug 15.

PMID:
23950017
17.

Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy.

Yang YJ, Yao X, Guo J, Zhao R, He XY, Zhao L, Tu M, Zhu YM.

Am J Med Genet A. 2015 Apr;167A(4):866-71. doi: 10.1002/ajmg.a.36991. Epub 2015 Feb 23.

PMID:
25706510
18.

MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report.

Shim JS, Min K, Lee SH, Park JE, Park SH, Kim M, Shim SH.

Ann Rehabil Med. 2015 Jun;39(3):482-7. doi: 10.5535/arm.2015.39.3.482. Epub 2015 Jun 30.

19.

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.

20.

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.

Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D.

Am J Med Genet A. 2012 Jun;158A(6):1395-9. doi: 10.1002/ajmg.a.35361. Epub 2012 May 14.

PMID:
22585544

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