144 related articles for article (PubMed ID: 31866572)
1. Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
Lee S; Taylor JL; Redmond C; Hadd AG; Kemppainen JA; Haynes BC; Shone S; Bailey DB; Latham GJ
J Mol Diagn; 2020 Mar; 22(3):346-354. PubMed ID: 31866572
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.
Lyon E; Laver T; Yu P; Jama M; Young K; Zoccoli M; Marlowe N
J Mol Diagn; 2010 Jul; 12(4):505-11. PubMed ID: 20431035
[TBL] [Abstract][Full Text] [Related]
4. Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Inaba Y; Herlihy AS; Schwartz CE; Skinner C; Bui QM; Cobb J; Shi EZ; Francis D; Arvaj A; Amor DJ; Pope K; Wotton T; Cohen J; Hewitt JK; Hagerman RJ; Metcalfe SA; Hopper JL; Loesch DZ; Slater HR; Godler DE
Genet Med; 2013 Apr; 15(4):290-8. PubMed ID: 23060046
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene.
Dodds ED; Tassone F; Hagerman PJ; Lebrilla CB
Anal Chem; 2009 Jul; 81(13):5533-40. PubMed ID: 19514725
[TBL] [Abstract][Full Text] [Related]
7. High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis.
Larsen LA; Grønskov K; Nørgaard-Pedersen B; Brøndum-Nielsen K; Hasholt L; Vuust J
Hum Genet; 1997 Oct; 100(5-6):564-8. PubMed ID: 9341871
[TBL] [Abstract][Full Text] [Related]
8. Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.
Liu T; Wang FS; Cheah FSH; Gu Y; Shaw M; Law HY; Tay SKH; Lee CG; Nelson DL; Gecz J; Chong SS
J Mol Diagn; 2021 Aug; 23(8):941-951. PubMed ID: 34111553
[TBL] [Abstract][Full Text] [Related]
9. An assessment of screening strategies for fragile X syndrome in the UK.
Pembrey ME; Barnicoat AJ; Carmichael B; Bobrow M; Turner G
Health Technol Assess; 2001; 5(7):1-95. PubMed ID: 11262423
[TBL] [Abstract][Full Text] [Related]
10. High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes.
Rajan-Babu IS; Phang GP; Law HY; Lee CG; Chong SS
J Mol Diagn; 2022 Mar; 24(3):241-252. PubMed ID: 35038595
[TBL] [Abstract][Full Text] [Related]
11. Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.
Nolin SL; Glicksman A; Ersalesi N; Dobkin C; Brown WT; Cao R; Blatt E; Sah S; Latham GJ; Hadd AG
Genet Med; 2015 May; 17(5):358-64. PubMed ID: 25210937
[TBL] [Abstract][Full Text] [Related]
12. Defining the Performance Parameters of a Rapid Screening Tool for FMR1 CGG-Repeat Expansions Based on Direct Triplet-Primed PCR and Melt Curve Analysis.
Rajan-Babu IS; Lian M; Tran AH; Dang TT; Le HT; Thanh MN; Lee CG; Chong SS
J Mol Diagn; 2016 Sep; 18(5):719-730. PubMed ID: 27375073
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.
Tassone F; Pan R; Amiri K; Taylor AK; Hagerman PJ
J Mol Diagn; 2008 Jan; 10(1):43-9. PubMed ID: 18165273
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
Coffee B; Keith K; Albizua I; Malone T; Mowrey J; Sherman SL; Warren ST
Am J Hum Genet; 2009 Oct; 85(4):503-14. PubMed ID: 19804849
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population.
Fernandez-Carvajal I; Walichiewicz P; Xiaosen X; Pan R; Hagerman PJ; Tassone F
J Mol Diagn; 2009 Jul; 11(4):324-9. PubMed ID: 19460941
[TBL] [Abstract][Full Text] [Related]
19. Triplet-Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification.
Rajan-Babu IS; Lian M; Chong SS
Curr Protoc; 2022 May; 2(5):e427. PubMed ID: 35609145
[TBL] [Abstract][Full Text] [Related]
20. Fragile X analysis of 1112 prenatal samples from 1991 to 2010.
Nolin SL; Glicksman A; Ding X; Ersalesi N; Brown WT; Sherman SL; Dobkin C
Prenat Diagn; 2011 Oct; 31(10):925-31. PubMed ID: 21717484
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]