407 related articles for article (PubMed ID: 20333642)
1. 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. PubMed ID: 20333642
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 19592390
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 21990267
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 21626678
[TBL] [Abstract][Full Text] [Related]
5. 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; ; Ekici AB; Reis A; Rauch A
Hum Mutat; 2010 Jun; 31(6):722-33. PubMed ID: 20513142
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 23402836
[TBL] [Abstract][Full Text] [Related]
7. Refining the phenotype associated with MEF2C point mutations.
Bienvenu T; Diebold B; Chelly J; Isidor B
Neurogenetics; 2013 Feb; 14(1):71-5. PubMed ID: 23001426
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 22848023
[TBL] [Abstract][Full Text] [Related]
9. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.
Aradhya S; Manning MA; Splendore A; Cherry AM
Am J Med Genet A; 2007 Jul; 143A(13):1431-41. PubMed ID: 17568414
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 21567930
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 27255693
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 23824879
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 20412115
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 22031302
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 26864752
[TBL] [Abstract][Full Text] [Related]
16. Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.
Nowakowska B; Stankiewicz P; Obersztyn E; Ou Z; Li J; Chinault AC; Smyk M; Borg K; Mazurczak T; Cheung SW; Bocian E
Am J Med Genet A; 2008 Sep; 146A(18):2361-9. PubMed ID: 18698622
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 25691421
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 22419405
[No Abstract] [Full Text] [Related]
19. Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.
Chen CP; Lin SP; Su YN; Chern SR; Su JW; Lee CC; Wang W
Genet Couns; 2012; 23(4):447-55. PubMed ID: 23431743
[TBL] [Abstract][Full Text] [Related]
20. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
Caliebe A; Kroes HY; van der Smagt JJ; Martin-Subero JI; Tönnies H; van 't Slot R; Nievelstein RA; Muhle H; Stephani U; Alfke K; Stefanova I; Hellenbroich Y; Gillessen-Kaesbach G; Hochstenbach R; Siebert R; Poot M
Eur J Med Genet; 2010; 53(4):179-85. PubMed ID: 20382278
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]