Fragile X protein in newborn dried blood spots-Reference-Cited by-同舟云学术

Fragile X protein in newborn dried blood spots

Published:2014-10-28 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Adayev Tatyana,LaFauci Giuseppe,Dobkin Carl,Caggana Michele,Wiley Veronica,Field Michael,Wotton Tiffany,Kascsak Richard,Nolin Sarah L,Glicksman Anne,Hosmer Nicole,Brown W Ted

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-014-0119-0/fulltext.html

Reference27 articles.

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2. Tassone F, Hagerman RJ, Ikle DN, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK: FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet. 1999, 84 (3): 250-261. 10.1002/(SICI)1096-8628(19990528)84:3<250::AID-AJMG17>3.0.CO;2-4.

3. De Boulle K, Verkerk AJ, Reyniers E, Vits L, Hendrickx J, Van Roy B, Van den Bos F, de Graaff E, Oostra BA, Willems PJ: A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet. 1993, 3 (1): 31-35. 10.1038/ng0193-31.

4. Coffey SM, Cook K, Tartaglia N, Tassone F, Nguyen DV, Pan R, Bronsky HE, Yuhas J, Borodyanskaya M, Grigsby J, Doerflinger M, Hagerman PJ, Hagerman RJ: Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A. 2008, 146A (8): 1009-1016. 10.1002/ajmg.a.32060.

5. Levesque S, Dombrowski C, Morel ML, Rehel R, Cote JS, Bussieres J, Morgan K, Rousseau F: Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. Clin Genet. 2009, 76 (6): 511-523. 10.1111/j.1399-0004.2009.01237.x.

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1. A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome;Scientific Reports;2023-03-07

2. Optimization, validation and initial clinical implications of a Luminex-based immunoassay for the quantification of Fragile X Protein from dried blood spots;Scientific Reports;2022-04-04

3. Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation;Journal of Neurodevelopmental Disorders;2022-01-14

4. Daily Living Skills in Adolescent and Young Adult Males With Fragile X Syndrome;American Journal on Intellectual and Developmental Disabilities;2022-01-01

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