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Results: 1 to 20 of 95

1.

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.

PMID:
19592390
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14).

Toral-López J, Buentello-Volante B, Balderas-Minor MM, Amezcua-Herrera C, Valdes-Miranda JM, González-Huerta LM, Gudiño M, Cuevas-Covarrubias SA, Zenteno JC.

Am J Med Genet A. 2012 Apr;158A(4):942-6. doi: 10.1002/ajmg.a.35262. Epub 2012 Mar 14. No abstract available.

PMID:
22419405
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

The MEF2C gene-microdeletion 5q14.3 dilemma and three axioms for molecular syndromology.

Wilson GN.

Am J Med Genet A. 2013 Apr;161A(4):916-7. doi: 10.1002/ajmg.a.35785. Epub 2013 Mar 12. No abstract available.

PMID:
23495102
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
15.

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

Basel-Vanagaite L, Goldberg-Stern H, Mimouni-Bloch A, Shkalim V, Böhm D, Kohlhase J.

J Child Neurol. 2011 Jan;26(1):113-6. doi: 10.1177/0883073810377658.

PMID:
21212457
[PubMed - indexed for MEDLINE]
16.

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

Tyson C, McGillivray B, Chijiwa C, Rajcan-Separovic E.

Am J Med Genet A. 2004 Sep 1;129A(3):254-60.

PMID:
15326624
[PubMed - indexed for MEDLINE]
17.

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation.

Ghebranious N, Giampietro PF, Wesbrook FP, Rezkalla SH.

Am J Med Genet A. 2007 Jul 1;143A(13):1462-71.

PMID:
17568417
[PubMed - indexed for MEDLINE]
18.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.

J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902.

PMID:
20522426
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

Lesca G, Till M, Labalme A, Vallee D, Hugonenq C, Philip N, Edery P, Sanlaville D.

Am J Med Genet A. 2011 Jul;155A(7):1706-11. doi: 10.1002/ajmg.a.34004. Epub 2011 May 27.

PMID:
21626670
[PubMed - indexed for MEDLINE]

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