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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.

American journal of medical genetics. Part A

Bartlett E, Archibald AD, Francis D, Ling L, Thomas R, Chandler G, Ward L, O'Farrell G, Pandelache A, Delatycki MB, Bennetts BH, Ho G, Fisk K, Baker EK, Amor DJ, Godler DE.
PMID: 34545686
Am J Med Genet A. 2022 Jan;188(1):304-309. doi: 10.1002/ajmg.a.62500. Epub 2021 Sep 21.

The FMR1 premutation (PM:55-199 CGG) is associated with fragile X-associated tremor/ataxia syndrome (FXTAS) and when maternally transmitted is at risk of expansion to a hypermethylated full mutation (FM: ≥ 200 CGG) that causes fragile X syndrome (FXS). We describe...

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Bartlett E, Archibald AD, Francis D, et al. Paternal retraction of a fragile X allele to normal size, showing normal function over two generations. Am J Med Genet A. 2021;188(1):304-309doi: 10.1002/ajmg.a.62500.
Bartlett, E., Archibald, A. D., Francis, D., Ling, L., Thomas, R., Chandler, G., Ward, L., O'Farrell, G., Pandelache, A., Delatycki, M. B., Bennetts, B. H., Ho, G., Fisk, K., Baker, E. K., Amor, D. J., & Godler, D. E. (2022). Paternal retraction of a fragile X allele to normal size, showing normal function over two generations. American journal of medical genetics. Part A, 188(1), 304-309. https://doi.org/10.1002/ajmg.a.62500
Bartlett, Essra, et al. "Paternal retraction of a fragile X allele to normal size, showing normal function over two generations." American journal of medical genetics. Part A vol. 188,1 (2022): 304-309. doi: https://doi.org/10.1002/ajmg.a.62500
Bartlett E, Archibald AD, Francis D, Ling L, Thomas R, Chandler G, Ward L, O'Farrell G, Pandelache A, Delatycki MB, Bennetts BH, Ho G, Fisk K, Baker EK, Amor DJ, Godler DE. Paternal retraction of a fragile X allele to normal size, showing normal function over two generations. Am J Med Genet A. 2022 Jan;188(1):304-309. doi: 10.1002/ajmg.a.62500. Epub 2021 Sep 21. PMID: 34545686.
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Validation of a Next-Generation Sequencing-Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay: Transitioning from Capillary Electrophoresis to Next-Generation Sequencing.

The Journal of molecular diagnostics : JMD

Ho CC, Tung JK, Zehnder JL, Zhang BM.
PMID: 33892183
J Mol Diagn. 2021 Jul;23(7):805-815. doi: 10.1016/j.jmoldx.2021.03.008. Epub 2021 Apr 21.

Assessment of T-cell receptor γ gene (TRG) rearrangements is an importants consideration in the diagnostic workup of lymphoproliferative diseases. Although fragment analysis by PCR and capillary electrophoresis (CE) is the current standard of such assessment in clinical molecular diagnostic...

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Ho CC, Tung JK, Zehnder JL, et al. Validation of a Next-Generation Sequencing-Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay: Transitioning from Capillary Electrophoresis to Next-Generation Sequencing. J Mol Diagn. 2021;23(7):805-815doi: 10.1016/j.jmoldx.2021.03.008.
Ho, C. C., Tung, J. K., Zehnder, J. L., & Zhang, B. M. (2021). Validation of a Next-Generation Sequencing-Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay: Transitioning from Capillary Electrophoresis to Next-Generation Sequencing. The Journal of molecular diagnostics : JMD, 23(7), 805-815. https://doi.org/10.1016/j.jmoldx.2021.03.008
Ho, Chandler C, et al. "Validation of a Next-Generation Sequencing-Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay: Transitioning from Capillary Electrophoresis to Next-Generation Sequencing." The Journal of molecular diagnostics : JMD vol. 23,7 (2021): 805-815. doi: https://doi.org/10.1016/j.jmoldx.2021.03.008
Ho CC, Tung JK, Zehnder JL, Zhang BM. Validation of a Next-Generation Sequencing-Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay: Transitioning from Capillary Electrophoresis to Next-Generation Sequencing. J Mol Diagn. 2021 Jul;23(7):805-815. doi: 10.1016/j.jmoldx.2021.03.008. Epub 2021 Apr 21. PMID: 33892183; PMCID: PMC8504441.
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Showing 553 to 554 of 554 entries