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Items: 1 to 20 of 67

1.

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.

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.

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
4.

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

Vrečar I, Innes J, Jones EA, Kingston H, Reardon W, Kerr B, Clayton-Smith J, Douzgou S.

J Pediatr Genet. 2017 Sep;6(3):129-141. doi: 10.1055/s-0037-1601335. Epub 2017 Apr 12. Review.

PMID:
28794905
5.

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.

6.

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
7.

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
8.

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
9.

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
10.

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
11.

5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings.

Park SM, Kim JM, Kim GW, Kim HS, Kim BS, Kim MB, Ko HC.

Pediatr Dermatol. 2017 Mar;34(2):156-159. doi: 10.1111/pde.13088.

PMID:
28297145
12.

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
13.

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
14.

Refining the phenotype associated with MEF2C point mutations.

Bienvenu T, Diebold B, Chelly J, Isidor B.

Neurogenetics. 2013 Feb;14(1):71-5. doi: 10.1007/s10048-012-0344-7. Epub 2012 Sep 23.

PMID:
23001426
15.

Chromosome 15q24 microdeletion syndrome.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Review.

16.

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

DeSanto C, D'Aco K, Araujo GC, Shannon N; DDD Study, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M.

J Med Genet. 2015 Nov;52(11):754-61. doi: 10.1136/jmedgenet-2015-103069. Epub 2015 Aug 11.

PMID:
26264232
17.

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC.

Orphanet J Rare Dis. 2007 Oct 24;2:42. Review.

18.

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
19.

ADGRV1 is implicated in myoclonic epilepsy.

Myers KA, Nasioulas S, Boys A, McMahon JM, Slater H, Lockhart P, Sart DD, Scheffer IE.

Epilepsia. 2018 Feb;59(2):381-388. doi: 10.1111/epi.13980. Epub 2017 Dec 20.

PMID:
29266188
20.

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.

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