BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

440 related articles for article (PubMed ID: 33921863)

  • 21. Spectrum of MECP2 mutations in Rett syndrome.
    Bienvenu T; Villard L; De Roux N; Bourdon V; Fontes M; Beldjord C; Tardieu M; Jonveaux P; Chelly J;
    Genet Test; 2002; 6(1):1-6. PubMed ID: 12180070
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.
    Buoni S; Zannolli R; Felice CD; Saponari S; Strambi M; Dotti MT; Castrucci E; Corbini L; Orsi A; Hayek J
    Clin Neurophysiol; 2008 Nov; 119(11):2455-8. PubMed ID: 18842453
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].
    Li MR; Pan H; Bao XH; Zhu XW; Cao GN; Zhang YZ; Wu XR
    Zhonghua Er Ke Za Zhi; 2009 Feb; 47(2):124-8. PubMed ID: 19573459
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Social impairments in Rett syndrome: characteristics and relationship with clinical severity.
    Kaufmann WE; Tierney E; Rohde CA; Suarez-Pedraza MC; Clarke MA; Salorio CF; Bibat G; Bukelis I; Naram D; Lanham DC; Naidu S
    J Intellect Disabil Res; 2012 Mar; 56(3):233-47. PubMed ID: 21385260
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
    Philippe C; Villard L; De Roux N; Raynaud M; Bonnefond JP; Pasquier L; Lesca G; Mancini J; Jonveaux P; Moncla A; Chelly J; Bienvenu T
    Eur J Med Genet; 2006; 49(1):9-18. PubMed ID: 16473305
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Epilepsy and the natural history of Rett syndrome.
    Glaze DG; Percy AK; Skinner S; Motil KJ; Neul JL; Barrish JO; Lane JB; Geerts SP; Annese F; Graham J; McNair L; Lee HS
    Neurology; 2010 Mar; 74(11):909-12. PubMed ID: 20231667
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients].
    Vorsanova SG; Ulas VIu; Iurov IuB; Giovanucci-Uzielli ML; Demidova IA; Gianti L; Villard L; Iurov IIu; Beresheva AK; Novikov PV
    Zh Nevrol Psikhiatr Im S S Korsakova; 2002; 102(10):23-9. PubMed ID: 12449561
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.
    Chapleau CA; Calfa GD; Lane MC; Albertson AJ; Larimore JL; Kudo S; Armstrong DL; Percy AK; Pozzo-Miller L
    Neurobiol Dis; 2009 Aug; 35(2):219-33. PubMed ID: 19442733
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome.
    De Felice C; Della Ragione F; Signorini C; Leoncini S; Pecorelli A; Ciccoli L; Scalabrì F; Marracino F; Madonna M; Belmonte G; Ricceri L; De Filippis B; Laviola G; Valacchi G; Durand T; Galano JM; Oger C; Guy A; Bultel-Poncé V; Guy J; Filosa S; Hayek J; D'Esposito M
    Neurobiol Dis; 2014 Aug; 68(100):66-77. PubMed ID: 24769161
    [TBL] [Abstract][Full Text] [Related]  

  • 30. MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
    Zahorakova D; Lelkova P; Gregor V; Magner M; Zeman J; Martasek P
    J Hum Genet; 2016 Jul; 61(7):617-25. PubMed ID: 26984561
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations.
    Baris I; Battaloglu E
    Genet Test Mol Biomarkers; 2009 Feb; 13(1):19-22. PubMed ID: 19309269
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
    Das DK; Raha S; Sanghavi D; Maitra A; Udani V
    Gene; 2013 Feb; 515(1):78-83. PubMed ID: 23262346
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Nonenzymatic oxygenated metabolite of docosahexaenoic acid, 4(RS)-4-F
    Lee YY; Galano JM; Leung HH; Balas L; Oger C; Durand T; Lee JC
    FEBS Lett; 2020 Jun; 594(11):1797-1808. PubMed ID: 32215916
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
    Huppke P; Laccone F; Krämer N; Engel W; Hanefeld F
    Hum Mol Genet; 2000 May; 9(9):1369-75. PubMed ID: 10814718
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.
    Shapiro JR; Bibat G; Hiremath G; Blue ME; Hundalani S; Yablonski T; Kantipuly A; Rohde C; Johnston M; Naidu S
    Pediatr Res; 2010 Nov; 68(5):446-51. PubMed ID: 20661168
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X.
    Bissonnette JM; Schaevitz LR; Knopp SJ; Zhou Z
    Neuroscience; 2014 May; 267():166-76. PubMed ID: 24626160
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Non-enzymatic oxidized metabolite of DHA, 4(RS)-4-F
    Roy J; Fauconnier J; Oger C; Farah C; Angebault-Prouteau C; Thireau J; Bideaux P; Scheuermann V; Bultel-Poncé V; Demion M; Galano JM; Durand T; Lee JC; Le Guennec JY
    Free Radic Biol Med; 2017 Jan; 102():229-239. PubMed ID: 27932075
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.
    Crosson J; Srivastava S; Bibat GM; Gupta S; Kantipuly A; Smith-Hicks C; Myers SM; Sanyal A; Yenokyan G; Brenner J; Naidu SR
    Am J Med Genet A; 2017 Jun; 173(6):1495-1501. PubMed ID: 28394409
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations.
    Vecsler M; Ben Zeev B; Nudelman I; Anikster Y; Simon AJ; Amariglio N; Rechavi G; Baasov T; Gak E
    PLoS One; 2011; 6(6):e20733. PubMed ID: 21695138
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
    Smeets E; Schollen E; Moog U; Matthijs G; Herbergs J; Smeets H; Curfs L; Schrander-Stumpel C; Fryns JP
    Am J Med Genet A; 2003 Oct; 122A(3):227-33. PubMed ID: 12966523
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 22.