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1.
Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome.
Metabolomics
; 20(2): 31, 2024 Feb 28.
Article
in English
| MEDLINE | ID: mdl-38418685
2.
Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS.
Int J Mol Sci
; 24(17)2023 Aug 30.
Article
in English
| MEDLINE | ID: mdl-37686279
3.
Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
FASEB J
; 34(12): 16676-16692, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33131090
4.
FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.
J Mol Diagn
; 26(6): 498-509, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38522837
5.
Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene.
Mol Neurobiol
; 60(4): 2051-2061, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36598648
6.
Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome.
Cells
; 12(14)2023 07 24.
Article
in English
| MEDLINE | ID: mdl-37508583
7.
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Cells
; 12(18)2023 09 21.
Article
in English
| MEDLINE | ID: mdl-37759552
8.
De Novo Large Deletion Leading to Fragile X Syndrome.
Front Genet
; 13: 884424, 2022.
Article
in English
| MEDLINE | ID: mdl-35646065
9.
Differential Methylation Profile in Fragile X Syndrome-Prone Offspring Mice after in Utero Exposure to Lactobacillus Reuteri.
Genes (Basel)
; 13(8)2022 07 22.
Article
in English
| MEDLINE | ID: mdl-35893036
10.
Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.
Sci Rep
; 12(1): 10419, 2022 06 21.
Article
in English
| MEDLINE | ID: mdl-35729184
11.
Maternal Microbiota Modulate a Fragile X-like Syndrome in Offspring Mice.
Genes (Basel)
; 13(8)2022 08 08.
Article
in English
| MEDLINE | ID: mdl-36011319
12.
Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS.
Front Psychiatry
; 12: 691717, 2021.
Article
in English
| MEDLINE | ID: mdl-34483988
13.
Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS).
Cells
; 9(10)2020 10 05.
Article
in English
| MEDLINE | ID: mdl-33027907
14.
FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS).
Sci Rep
; 10(1): 11099, 2020 07 06.
Article
in English
| MEDLINE | ID: mdl-32632326
15.
Molecular Biomarkers in Fragile X Syndrome.
Brain Sci
; 9(5)2019 Apr 27.
Article
in English
| MEDLINE | ID: mdl-31035599
16.
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
Methods Mol Biol
; 1942: 173-189, 2019.
Article
in English
| MEDLINE | ID: mdl-30900185
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