BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

419 related articles for article (PubMed ID: 27442693)

  • 1. Fragile X syndrome in females - a familial case report and review of the literature.
    Stembalska A; Łaczmańska I; Gil J; Pesz KA
    Dev Period Med; 2016; 20(2):99-104. PubMed ID: 27442693
    [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. Simple molecular diagnostic method for fragile X syndrome in Egyptian patients: pilot study.
    Meguid NA; Ismail MF; El-Mahdy RS; Barakat MA; El-Awady MK
    Acta Biochim Pol; 2014; 61(2):259-63. PubMed ID: 24936518
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.
    Kim JK; Jeong JE; Choi JM; Kim GH; Yoo HW
    J Hum Genet; 2020 Jun; 65(6):551-555. PubMed ID: 32144408
    [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. Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.
    Tabolacci E; Pomponi MG; Remondini L; Pietrobono R; Nobile V; Pennacchio G; Gurrieri F; Neri G; Genuardi M; Chiurazzi P
    Eur J Hum Genet; 2020 May; 28(5):567-575. PubMed ID: 31804632
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
    Baker EK; Arpone M; Aliaga SM; Bretherton L; Kraan CM; Bui M; Slater HR; Ling L; Francis D; Hunter MF; Elliott J; Rogers C; Field M; Cohen J; Cornish K; Santa Maria L; Faundes V; Curotto B; Morales P; Trigo C; Salas I; Alliende AM; Amor DJ; Godler DE
    Mol Autism; 2019; 10():21. PubMed ID: 31073396
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.
    Ferreira SI; Pires LM; Ferrão J; Sá J; Serra A; Carreira IM
    Gene; 2013 Sep; 527(1):421-5. PubMed ID: 23792063
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Mosaicism in Fragile X syndrome: A family case series.
    Saldarriaga W; González-Teshima LY; Forero-Forero JV; Tang HT; Tassone F
    J Intellect Disabil; 2022 Sep; 26(3):800-807. PubMed ID: 33998336
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Think about it: FMR1 gene mosaicism.
    Bonarrigo FA; Russo S; Vizziello P; Menni F; Cogliati F; Giorgini V; Monti F; Milani D
    J Child Neurol; 2014 Sep; 29(9):NP74-7. PubMed ID: 24065579
    [TBL] [Abstract][Full Text] [Related]  

  • 15. FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.
    Rajan-Babu IS; Lian M; Cheah FSH; Chen M; Tan ASC; Prasath EB; Loh SF; Chong SS
    Expert Rev Mol Med; 2017 Jul; 19():e10. PubMed ID: 28720156
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family.
    Cortés H; Reyes-Rosales M; Rojas-Velasco AJ; García-Juárez B; Tapia-Guerrero YS; Arenas-Diaz S; Leyva-García N; Macías-Gallardo JJ; Carrillo-Mora P; Magaña JJ
    Genet Test Mol Biomarkers; 2020 Aug; 24(8):527-531. PubMed ID: 32716213
    [No Abstract]   [Full Text] [Related]  

  • 18. Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.
    Cronister A; Teicher J; Rohlfs EM; Donnenfeld A; Hallam S
    Obstet Gynecol; 2008 Mar; 111(3):596-601. PubMed ID: 18310361
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Compound heterozygosity at the FMR1 gene.
    Hegde MR; Fawkner M; Chong B; McGaughran J; Gilbert D; Love DR
    Genet Test; 2001; 5(2):135-8. PubMed ID: 11551100
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.
    Muthuswamy S; Dean DD; Agarwal S
    Neurol India; 2016; 64(6):1175-1179. PubMed ID: 27841182
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.