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» Authors » Solange M Aliaga

Solange M Aliaga

Explore the profile of Solange M Aliaga including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 6
Citations 71
Followers 0
Related Specialties
Biochemistry
Science
Molecular Biology
Top 10 Co-Authors
David E Godler
David Francis
David J Amor
Ling Ling
Emma K Baker
Marta Arpone
Carolyn Rogers
Lesley Bretherton
Minh Bui
Cesar Trigo
Published In
Sci Rep
Clin Chem
Mol Autism
Int J Mol Sci
Genes (Basel)
Affiliations
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Recent Articles
1.
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing
Hensel C, Vanzo R, Martin M, Ling L, Aliaga S, Bui M, et al.
Sci Rep . 2019 Oct; 9(1):15315. PMID: 31653898
In 2016, Methylation-Specific Quantitative Melt Analysis (MS-QMA) on 3,340 male probands increased diagnostic yield from 1.60% to 1.84% for fragile X syndrome (FXS) using a pooling approach. In this study...
2.
Significantly Elevated mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing
Field M, Dudding-Byth T, Arpone M, Baker E, Aliaga S, Rogers C, et al.
Int J Mol Sci . 2019 Aug; 20(16). PMID: 31405222
Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and a decrease in mRNA and its protein (FMRP), incomplete silencing...
3.
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Baker E, Arpone M, Aliaga S, Bretherton L, Kraan C, Bui M, et al.
Mol Autism . 2019 May; 10:21. PMID: 31073396
Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the 1 product (FMRP), mosaicism for active...
4.
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles
Pandelache A, Baker E, Aliaga S, Arpone M, Forbes R, Stark Z, et al.
Genes (Basel) . 2019 Apr; 10(4). PMID: 30959842
This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: <44 CGGs), premutation (PM: 55–199 CGG) and full mutation (FM alleles ≥ 200)...
5.
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
Arpone M, Baker E, Bretherton L, Bui M, Li X, Whitaker S, et al.
Sci Rep . 2018 Feb; 8(1):3644. PMID: 29483611
Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This...
6.
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis
Aliaga S, Slater H, Francis D, du Sart D, Li X, Amor D, et al.
Clin Chem . 2015 Dec; 62(2):343-52. PMID: 26715660
Background: FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile...