Publications by authors named "Solange Aliaga"

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Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Emma K Baker, Marta Arpone, Solange M Aliaga, Lesley Bretherton, Claudine M Kraan

Mol Autism· June 2020

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Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
Charles H Hensel, Rena J Vanzo, Megan M Martin, Ling Ling, Solange M Aliaga

Sci Rep· October 2019

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Significantly Elevated mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
Michael Field, Tracy Dudding-Byth, Marta Arpone, Emma K Baker, Solange M Aliaga

Int J Mol Sci· August 2019

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Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
Alison Pandelache, Emma K Baker, Solange M Aliaga, Marta Arpone, Robin Forbes

Genes (Basel)· April 2019

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Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.
Marta Arpone, Emma K Baker, Lesley Bretherton, Minh Bui, Xin Li, Solange M Aliaga

Sci Rep· February 2018

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Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68.
Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis

Genes (Basel)· January 2017

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Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.
Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li

Am J Med Genet A· December 2016

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Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.
Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis

Genes (Basel)· September 2016

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FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.
Lorena Santa María, Solange Aliaga, Víctor Faundes, Paulina Morales, Ángela Pugin

Genet Res (Camb)· June 2016

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Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations.
Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Karla Morales, Solange Aliaga

J Appl Genet· February 2016

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Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Solange M Aliaga, Howard R Slater, David Francis, Desiree Du Sart, Xin Li

Clin Chem· February 2016

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Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: lessons for genetic counseling.
Víctor Faundes, Lorena Santa María, Solange Aliaga, Bianca Curotto, Angela Pugin

Am J Med Genet A· January 2015

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