160 related articles for article (PubMed ID: 21990267)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
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; ; Ekici AB; Reis A; Rauch A
Hum Mutat; 2010 Jun; 31(6):722-33. PubMed ID: 20513142
[TBL] [Abstract][Full Text] [Related]
7. Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.
Yauy K; Schneider A; Ng BL; Gaillard JB; Sati S; Coubes C; Wells C; Tournaire M; Guignard T; Bouret P; Geneviève D; Puechberty J; Pellestor F; Gatinois V
BMC Med Genomics; 2019 Aug; 12(1):116. PubMed ID: 31375103
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).
Saitsu H; Osaka H; Sugiyama S; Kurosawa K; Mizuguchi T; Nishiyama K; Nishimura A; Tsurusaki Y; Doi H; Miyake N; Harada N; Kato M; Matsumoto N
Am J Med Genet A; 2012 Jan; 158A(1):199-205. PubMed ID: 22106086
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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):222-224. PubMed ID: 20729728
[No Abstract] [Full Text] [Related]
14. 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]
15. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
[TBL] [Abstract][Full Text] [Related]
16. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Halgren C; Kjaergaard S; Bak M; Hansen C; El-Schich Z; Anderson CM; Henriksen KF; Hjalgrim H; Kirchhoff M; Bijlsma EK; Nielsen M; den Hollander NS; Ruivenkamp CA; Isidor B; Le Caignec C; Zannolli R; Mucciolo M; Renieri A; Mari F; Anderlid BM; Andrieux J; Dieux A; Tommerup N; Bache I
Clin Genet; 2012 Sep; 82(3):248-55. PubMed ID: 21801163
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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. PubMed ID: 29266188
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 23495102
[No Abstract] [Full Text] [Related]
20. The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.
Bhalla K; Phillips HA; Crawford J; McKenzie OLD; Mulley JC; Eyre H; Gardner AE; Kremmidiotis G; Callen DF
J Hum Genet; 2004; 49(6):308-311. PubMed ID: 15148587
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
