Fragile X Screening by Quantification of FMRP in Dried Blood Spots by a Luminex Immunoassay-Reference-Cited by-同舟云学术

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Fragile X Screening by Quantification of FMRP in Dried Blood Spots by a Luminex Immunoassay

Published:2013-07 Issue:4 Volume:15 Page:508-517
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

LaFauci Giuseppe,Adayev Tatyana,Kascsak Richard,Kascsak Regina,Nolin Sarah,Mehta Pankaj,Brown W. Ted,Dobkin Carl

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference60 articles.

1. Absence of expression of the FMR-1 gene in fragile X syndrome;Pieretti;Cell,1991

2. A point mutation in the FMR-1 gene associated with fragile X mental retardation;De Boulle;Nat Genet,1993

3. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature;Coffee;Am J Med Genet A,2008

4. FMRP expression as a potential prognostic indicator in fragile X syndrome;Tassone;Am J Med Genet,1999

5. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation;Devys;Nat Genet,1993

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1. Role of fragile X messenger ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective;Neuroscience & Biobehavioral Reviews;2024-07

2. Abnormal neural sensitivity to rewards as a candidate process of high depression risk in the FMR1 premutation: A pilot study;Journal of Mood & Anxiety Disorders;2024-06

3. Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome;Genes;2024-03-13

4. Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature;Clinica Chimica Acta;2024-01

5. High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations;Clinical Case Reports;2023-06

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