These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 18181681)

  • 1. A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome.
    Thyagarajan B; Bower M; Berger M; Jones S; Dolan M; Wang X
    Arch Pathol Lab Med; 2008 Jan; 132(1):95-8. PubMed ID: 18181681
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.
    Chen L; Hadd A; Sah S; Houghton JF; Filipovic-Sadic S; Zhang W; Hagerman PJ; Tassone F; Latham GJ
    Genet Med; 2011 Jun; 13(6):528-538. PubMed ID: 21430544
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses.
    Cai X; Arif M; Wan H; Kornreich R; Edelmann LJ
    Methods Mol Biol; 2019; 1942():11-27. PubMed ID: 30900172
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
    Cecconi M; Forzano F; Rinaldi R; Cappellacci S; Grammatico P; Faravelli F; Dagna Bricarelli F; Di Maria E; Grasso M
    J Mol Diagn; 2008 May; 10(3):272-5. PubMed ID: 18403614
    [TBL] [Abstract][Full Text] [Related]  

  • 6. FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.
    Santa María L; Aliaga S; Faundes V; Morales P; Pugin Á; Curotto B; Soto P; Peña MI; Salas I; Alliende MA
    Genet Res (Camb); 2016 Jun; 98():e11. PubMed ID: 27350105
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene.
    Wang H; Zhu X; Gui B; Cheung WC; Shi M; Yang Z; Kwok KY; Lim R; Pietilä S; Zhu Y; Choy KW
    J Vis Exp; 2019 Sep; (151):. PubMed ID: 31566610
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site.
    Liang S; Bass HN; Gao H; Astbury C; Jamehdor MR; Qu Y
    J Mol Diagn; 2008 Sep; 10(5):469-74. PubMed ID: 18687789
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.
    Handt M; Epplen A; Hoffjan S; Mese K; Epplen JT; Dekomien G
    Mol Cell Probes; 2014; 28(5-6):279-83. PubMed ID: 25171808
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay.
    Daly TM; Rafii A; Martin RA; Zehnbauer BA
    J Mol Diagn; 2000 Aug; 2(3):128-31. PubMed ID: 11229516
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Diagnostic testing in fragile X syndrome].
    Sireteanu A; Rusu C
    Rev Med Chir Soc Med Nat Iasi; 2006; 110(4):968-71. PubMed ID: 17438909
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratory.
    Nahhas FA; Monroe TJ; Prior TW; Botma PI; Fang J; Snyder PJ; Talbott SL; Feldman GL
    Genet Test Mol Biomarkers; 2012 Mar; 16(3):187-92. PubMed ID: 21992462
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing.
    Esposito G; Tremolaterra MR; Savarese M; Spiniello M; Patrizio MP; Lombardo B; Pastore L; Salvatore F; Carsana A
    Clin Chim Acta; 2018 Jan; 476():167-172. PubMed ID: 29170104
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Molecular analysis of Fragile X syndrome.
    Basehore MJ; Friez MJ
    Curr Protoc Hum Genet; 2009 Oct; Chapter 9():Unit 9.5. PubMed ID: 19806593
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular diagnosis of Fragile X syndrome.
    Sofocleous C; Kolialexi A; Mavrou A
    Expert Rev Mol Diagn; 2009 Jan; 9(1):23-30. PubMed ID: 19099346
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Maternal FMR1 premutation allele expansion and contraction in fraternal twins.
    Alfaro MP; Cohen M; Vnencak-Jones CL
    Am J Med Genet A; 2013 Oct; 161A(10):2620-5. PubMed ID: 23949867
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Epigenetics of fragile X syndrome and fragile X-related disorders.
    Kraan CM; Godler DE; Amor DJ
    Dev Med Child Neurol; 2019 Feb; 61(2):121-127. PubMed ID: 30084485
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.
    Carroll R; Shaw M; Arvio M; Gardner A; Kumar R; Hodgson B; Heron S; McKenzie F; Järvelä I; Gecz J
    Eur J Med Genet; 2020 Oct; 63(10):104010. PubMed ID: 32688058
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.