BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 21567930)

  • 21. 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]  

  • 22. [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]  

  • 23. Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.
    Cellamare A; Coccaro N; Nuzzi MC; Casieri P; Tampoia M; Maggiolini FAM; Gentile M; Ficarella R; Ponzi E; Conserva MR; Cardarelli L; Panarese A; Antonacci F; Gesario A
    Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34200357
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. MEF2C is activated by multiple mechanisms in a subset of T-acute lymphoblastic leukemia cell lines.
    Nagel S; Meyer C; Quentmeier H; Kaufmann M; Drexler HG; MacLeod RA
    Leukemia; 2008 Mar; 22(3):600-7. PubMed ID: 18079734
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
    Kurtas N; Arrigoni F; Errichiello E; Zucca C; Maghini C; D'Angelo MG; Beri S; Giorda R; Bertuzzo S; Delledonne M; Xumerle L; Rossato M; Zuffardi O; Bonaglia MC
    J Med Genet; 2018 Apr; 55(4):269-277. PubMed ID: 29378768
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Genotype-phenotype correlation in 13q13.3-q21.3 deletion.
    Tosca L; Brisset S; Petit FM; Metay C; Latour S; Lautier B; Lebas A; Druart L; Picone O; Mas AE; Prévot S; Tardieu M; Goossens M; Tachdjian G
    Eur J Med Genet; 2011; 54(5):e489-94. PubMed ID: 21741501
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1.
    Chen CP; Lin MH; Chen YY; Chern SR; Chen YN; Wu PS; Pan CW; Lee MS; Wang W
    Taiwan J Obstet Gynecol; 2015 Oct; 54(5):592-6. PubMed ID: 26522117
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Transcriptional deregulation of oncogenic myocyte enhancer factor 2C in T-cell acute lymphoblastic leukemia.
    Nagel S; Venturini L; Meyer C; Kaufmann M; Scherr M; Drexler HG; Macleod RA
    Leuk Lymphoma; 2011 Feb; 52(2):290-7. PubMed ID: 21261500
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction.
    Chen CP; Su YN; Chen YY; Chern SR; Liu YP; Wu PC; Lee CC; Chen YT; Wang W
    Taiwan J Obstet Gynecol; 2011 Sep; 50(3):345-52. PubMed ID: 22030051
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.
    Fernandez TV; García-González IJ; Mason CE; Hernández-Zaragoza G; Ledezma-Rodríguez VC; Anguiano-Alvarez VM; E'Vega R; Gutiérrez-Angulo M; Maya ML; García-Bejarano HE; González-Cruz M; Barrios S; Atorga R; López-Cardona MG; Armendariz-Borunda J; State MW; Dávalos NO
    Am J Med Genet A; 2008 Nov; 146A(21):2746-52. PubMed ID: 18837054
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding.
    Al-Shehhi M; Betts D; Mc Ardle L; Donoghue V; Reardon W
    Clin Dysmorphol; 2016 Jan; 25(1):23-6. PubMed ID: 26426104
    [No Abstract]   [Full Text] [Related]  

  • 34. [Improved identification for 5p deletion syndrome and partial trisomy 11q presented in a fetus by SNP array].
    Shi S; Pan G; Yang Y; Yan R; Li W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):195-9. PubMed ID: 27060314
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.
    Faguer S; De Sandre-Giovannoli A; Hemery M; Lévy N; Lamant L; Arveiler B; Rooryck C; Prouheze C; Vigouroux A; Chauveau D; Calvas P; Chassaing N
    Eur J Med Genet; 2011; 54(3):310-3. PubMed ID: 21276880
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.
    Boutry-Kryza N; Labalme A; Till M; Schluth-Bolard C; Langue J; Turleau C; Edery P; Sanlaville D
    Am J Med Genet A; 2012 Feb; 158A(2):400-5. PubMed ID: 22162340
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Infantile spasm associated with 5q14.3 microdeletion syndrome: clinical and genetic characterization of a core family].
    Yu D; Li S; Jiang N
    Zhonghua Er Ke Za Zhi; 2015 Feb; 53(2):140-2. PubMed ID: 25876691
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
    Kato Z; Morimoto W; Kimura T; Matsushima A; Kondo N
    Birth Defects Res A Clin Mol Teratol; 2010 Feb; 88(2):132-5. PubMed ID: 19813260
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.