BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

78 related articles for article (PubMed ID: 26426104)

  • 1. 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]  

  • 2. Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.
    Berland S; Houge G
    Clin Dysmorphol; 2010 Oct; 19(4):222-224. PubMed ID: 20729728
    [No 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.
    Ilari R; Agosta G; Bacino C
    Am J Med Genet A; 2016 Mar; 170(3):688-93. PubMed ID: 26774077
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome.
    Cassina M; Rigon C; Casarin A; Vicenzi V; Salviati L; Clementi M
    Am J Med Genet A; 2015 Jun; 167(6):1418-20. PubMed ID: 25900767
    [No Abstract]   [Full Text] [Related]  

  • 14. The MEF2C gene-microdeletion 5q14.3 dilemma and three axioms for molecular syndromology.
    Wilson GN
    Am J Med Genet A; 2013 Apr; 161A(4):916-7. PubMed ID: 23495102
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.
    Caliebe A; Martin Subero JI; Muhle H; Gesk S; Jänig U; Krause M; Plendl H; Stephani U; Siebert R; Eckmann-Scholz C
    Eur J Med Genet; 2011; 54(5):e505-9. PubMed ID: 21736959
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The role of new genetic technology in investigating autism and developmental delay.
    Shur N; Gunn S; Feit L; Oh AK; Yatchmink Y; Abuelo D
    Med Health R I; 2011 May; 94(5):131, 134-7. PubMed ID: 21710921
    [No Abstract]   [Full Text] [Related]  

  • 19. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
    Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS
    J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report.
    Macedoni-Lukšič M; Krgović D; Zagradišnik B; Kokalj-Vokač N
    Gene; 2013 Jul; 524(2):386-9. PubMed ID: 23612248
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 4.