BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

656 related articles for article (PubMed ID: 10773084)

  • 1. Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.
    Genç B; Müller-Hartmann H; Zeschnigk M; Deissler H; Schmitz B; Majewski F; von Gontard A; Doerfler W
    Nucleic Acids Res; 2000 May; 28(10):2141-52. PubMed ID: 10773084
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.
    Chaudhary AG; Hussein IR; Abuzenadah A; Gari M; Bassiouni R; Sogaty S; Lary S; Al-Quaiti M; Al Balwi M; Al Qahtani M
    Pediatr Neurol; 2014 Apr; 50(4):368-76. PubMed ID: 24630283
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.
    Wöhrle D; Salat U; Gläser D; Mücke J; Meisel-Stosiek M; Schindler D; Vogel W; Steinbach P
    J Med Genet; 1998 Feb; 35(2):103-11. PubMed ID: 9507388
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.
    Milà M; Castellví-Bel S; Giné R; Vazquez C; Badenas C; Sánchez A; Estivill X
    Hum Genet; 1996 Oct; 98(4):419-21. PubMed ID: 8792815
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
    Meijer H; de Graaff E; Merckx DM; Jongbloed RJ; de Die-Smulders CE; Engelen JJ; Fryns JP; Curfs PM; Oostra BA
    Hum Mol Genet; 1994 Apr; 3(4):615-20. PubMed ID: 8069307
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.
    Naumann A; Hochstein N; Weber S; Fanning E; Doerfler W
    Am J Hum Genet; 2009 Nov; 85(5):606-16. PubMed ID: 19853235
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome.
    Dahl C; Grønskov K; Larsen LA; Guldberg P; Brøndum-Nielsen K
    Clin Chem; 2007 Apr; 53(4):790-3. PubMed ID: 17259243
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome.
    Taylor AK; Safanda JF; Fall MZ; Quince C; Lang KA; Hull CE; Carpenter I; Staley LW; Hagerman RJ
    JAMA; 1994 Feb; 271(7):507-14. PubMed ID: 8301764
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1.
    Stöger R; Kajimura TM; Brown WT; Laird CD
    Hum Mol Genet; 1997 Oct; 6(11):1791-801. PubMed ID: 9302255
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Methylation analysis of the fragile X syndrome by PCR.
    Das S; Kubota T; Song M; Daniel R; Berry-Kravis EM; Prior TW; Popovich B; Rosser L; Arinami T; Ledbetter DH
    Genet Test; 1997-1998; 1(3):151-5. PubMed ID: 10464640
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.
    Milà M; Castellví-Bel S; Sánchez A; Lázaro C; Villa M; Estivill X
    J Med Genet; 1996 Apr; 33(4):338-40. PubMed ID: 8730293
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.
    Grønskov K; Hjalgrim H; Bjerager MO; Brøndum-Nielsen K
    Am J Hum Genet; 1997 Oct; 61(4):961-7. PubMed ID: 9382110
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Methylation analysis of CGG sites in the CpG island of the human FMR1 gene.
    Hansen RS; Gartler SM; Scott CR; Chen SH; Laird CD
    Hum Mol Genet; 1992 Nov; 1(8):571-8. PubMed ID: 1301165
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population.
    Garcia Arocena D; Breece KE; Hagerman PJ
    Hum Genet; 2003 Oct; 113(5):371-6. PubMed ID: 12905066
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Normal phenotype in two brothers with a full FMR1 mutation.
    Smeets HJ; Smits AP; Verheij CE; Theelen JP; Willemsen R; van de Burgt I; Hoogeveen AT; Oosterwijk JC; Oostra BA
    Hum Mol Genet; 1995 Nov; 4(11):2103-8. PubMed ID: 8589687
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter.
    Godde JS; Kass SU; Hirst MC; Wolffe AP
    J Biol Chem; 1996 Oct; 271(40):24325-8. PubMed ID: 8798682
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
    Hantash FM; Goos DG; Tsao D; Quan F; Buller-Burckle A; Peng M; Jarvis M; Sun W; Strom CM
    Genet Med; 2010 Mar; 12(3):162-73. PubMed ID: 20168238
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Stable DNA methylation boundaries and expanded trinucleotide repeats: role of DNA insertions.
    Naumann A; Kraus C; Hoogeveen A; Ramirez CM; Doerfler W
    J Mol Biol; 2014 Jul; 426(14):2554-66. PubMed ID: 24816393
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Transcription of the FMR1 gene in individuals with fragile X syndrome.
    Tassone F; Hagerman RJ; Chamberlain WD; Hagerman PJ
    Am J Med Genet; 2000; 97(3):195-203. PubMed ID: 11449488
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A methylation PCR approach for detection of fragile X syndrome.
    Panagopoulos I; Lassen C; Kristoffersson U; Aman P
    Hum Mutat; 1999; 14(1):71-9. PubMed ID: 10447261
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 33.