120 related articles for article (PubMed ID: 34184825)
1. Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
Cooley Coleman JA; Sarasua SM; Boccuto L; Moore HW; Skinner SA; DeLuca JM
Am J Med Genet A; 2021 Dec; 185(12):3884-3894. PubMed ID: 34184825
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Clinical findings from the landmark MEF2C-related disorders natural history study.
Cooley Coleman JA; Sarasua SM; Moore HW; Boccuto L; Cowan CW; Skinner SA; DeLuca JM
Mol Genet Genomic Med; 2022 Jun; 10(6):e1919. PubMed ID: 35416405
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20333642
[TBL] [Abstract][Full Text] [Related]
5. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Raviglione F; Douzgou S; Scala M; Mingarelli A; D'Arrigo S; Freri E; Darra F; Giglio S; Bonaglia MC; Pantaleoni C; Mastrangelo M; Epifanio R; Elia M; Saletti V; Morlino S; Vari MS; De Liso P; Pavaine J; Spaccini L; Cattaneo E; Gardella E; Møller RS; Marchese F; Colonna C; Gandioli C; Gobbi G; Ram D; Palumbo O; Carella M; Germano M; Tonduti D; De Angelis D; Caputo D; Bergonzini P; Novara F; Zuffardi O; Verrotti A; Orsini A; Bonuccelli A; De Muto MC; Trivisano M; Vigevano F; Granata T; Bernardina BD; Tranchina A; Striano P
Seizure; 2021 May; 88():60-72. PubMed ID: 33831796
[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. 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]
8. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Paciorkowski AR; Traylor RN; Rosenfeld JA; Hoover JM; Harris CJ; Winter S; Lacassie Y; Bialer M; Lamb AN; Schultz RA; Berry-Kravis E; Porter BE; Falk M; Venkat A; Vanzo RJ; Cohen JS; Fatemi A; Dobyns WB; Shaffer LG; Ballif BC; Marsh ED
Neurogenetics; 2013 May; 14(2):99-111. PubMed ID: 23389741
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation.
Morisada N; Ishida Y; Tokumoto S; Maruyama A; Iijima K
Pediatr Int; 2021 Dec; 63(12):1536-1538. PubMed ID: 34449120
[No Abstract] [Full Text] [Related]
11. 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]
12. 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. PubMed ID: 28794905
[TBL] [Abstract][Full Text] [Related]
13. MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review.
Borlot F; Whitney R; Cohn RD; Weiss SK
Seizure; 2019 Apr; 67():86-90. PubMed ID: 30922778
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients.
Barrus K; Rego S; Yip T; Martin PM; Glen OA; Van Ziffle J; Slavotinek AM
Am J Med Genet A; 2020 Dec; 182(12):2959-2963. PubMed ID: 32902921
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
Montgomery ND; Turcott CM; Tepperberg JH; McDonald MT; Aylsworth AS
Am J Med Genet A; 2013 Jan; 161A(1):198-202. PubMed ID: 23239541
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
