BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 31375103)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.
    Schneider A; Puechberty J; Ng BL; Coubes C; Gatinois V; Tournaire M; Girard M; Dumont B; Bouret P; Magnetto J; Baghdadli A; Pellestor F; Geneviève D
    Am J Med Genet A; 2015 Dec; 167A(12):3031-7. PubMed ID: 26333717
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
    Wang J; Zhang Q; Chen Y; Yu S; Wu X; Bao X; Wen Y
    BMC Med Genet; 2018 Oct; 19(1):191. PubMed ID: 30376817
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 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. 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]  

  • 13. Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
    Fernández Hernández L; Alcántara Ortigoza MA; Ramos Angeles SE; González-Del Angel A
    Cytogenet Genome Res; 2021; 161(12):556-563. PubMed ID: 35021179
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.
    Córdova-Fletes C; Domínguez MG; Delint-Ramirez I; Martínez-Rodríguez HG; Rivas-Estilla AM; Barros-Núñez P; Ortiz-López R; Neira VA
    Neurogenetics; 2015 Oct; 16(4):287-98. PubMed ID: 26163108
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
    Schluth-Bolard C; Labalme A; Cordier MP; Till M; Nadeau G; Tevissen H; Lesca G; Boutry-Kryza N; Rossignol S; Rocas D; Dubruc E; Edery P; Sanlaville D
    J Med Genet; 2013 Mar; 50(3):144-50. PubMed ID: 23315544
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Genes influenced by MEF2C contribute to neurodevelopmental disease via gene expression changes that affect multiple types of cortical excitatory neurons.
    Cosgrove D; Whitton L; Fahey L; Ó Broin P; Donohoe G; Morris DW
    Hum Mol Genet; 2021 May; 30(11):961-970. PubMed ID: 32975584
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 8.