BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 28794905)

  • 1. 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]  

  • 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. The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
    Zweier M; Rauch A
    Mol Syndromol; 2012 Apr; 2(3-5):164-170. PubMed ID: 22670137
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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. PubMed ID: 23832106
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations.
    Wan L; Liu X; Hu L; Chen H; Sun Y; Li Z; Wang Z; Lin Z; Zou L; Yang G
    Front Pediatr; 2021; 9():664449. PubMed ID: 34055696
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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. PubMed ID: 26161356
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
    Ehret JK; Engels H; Cremer K; Becker J; Zimmermann JP; Wohlleber E; Grasshoff U; Rossier E; Bonin M; Mangold E; Bevot A; Schön S; Heilmann-Heimbach S; Dennert N; Mathieu-Dramard M; Lacaze E; Plessis G; de Broca A; Jedraszak G; Röthlisberger B; Miny P; Filges I; Dufke A; Andrieux J; Lee JA; Zink AM
    Mol Cytogenet; 2015; 8():72. PubMed ID: 26421060
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.