BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 22670137)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 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. 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]  

  • 12. 5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings.
    Park SM; Kim JM; Kim GW; Kim HS; Kim BS; Kim MB; Ko HC
    Pediatr Dermatol; 2017 Mar; 34(2):156-159. PubMed ID: 28297145
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
    Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Genetic analysis of a case with MEF2C deletion in association with 5q14.3 microdeletion syndrome].
    Zhou T; Su W; Liang D; Xu Y; Luo Y; Tong G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Aug; 38(8):779-782. PubMed ID: 34365624
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Clinical phenotype and genetic analysis of a case of 5q14.3 microdeletion syndrome].
    Xu X; Li H; Zhang L; Lu F; Tang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1127-1131. PubMed ID: 34729758
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.
    Ehmke N; Karge S; Buchmann J; Korinth D; Horn D; Reis O; Häßler F
    Am J Med Genet A; 2017 May; 173(5):1251-1256. PubMed ID: 28345786
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.