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Items: 4

1.

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.

Baker EK, Arpone M, Aliaga SM, Bretherton L, Kraan CM, Bui M, Slater HR, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field M, Cohen J, Cornish K, Santa Maria L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE.

Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019.

2.

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.

Pandelache A, Baker EK, Aliaga SM, Arpone M, Forbes R, Stark Z, Francis D, Godler DE.

Genes (Basel). 2019 Apr 5;10(4). pii: E279. doi: 10.3390/genes10040279.

3.

Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.

Arpone M, Baker EK, Bretherton L, Bui M, Li X, Whitaker S, Dissanayake C, Cohen J, Hickerton C, Rogers C, Field M, Elliott J, Aliaga SM, Ling L, Francis D, Hearps SJC, Hunter MF, Amor DJ, Godler DE.

Sci Rep. 2018 Feb 26;8(1):3644. doi: 10.1038/s41598-018-21990-x.

4.

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.

Aliaga SM, Slater HR, Francis D, Du Sart D, Li X, Amor DJ, Alliende AM, Santa Maria L, Faundes V, Morales P, Trigo C, Salas I, Curotto B, Godler DE.

Clin Chem. 2016 Feb;62(2):343-52. doi: 10.1373/clinchem.2015.244681. Epub 2015 Dec 29.

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