Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing
Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K, Aliaga, Solange M, Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G, Palmer, Elizabeth E, Amor, David J, Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E
Published in International journal of molecular sciences (11.08.2019)
Published in International journal of molecular sciences (11.08.2019)
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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
Hensel, Charles H., Vanzo, Rena J., Martin, Megan M., Ling, Ling, Aliaga, Solange M., Bui, Minh, Francis, David I., Twede, Hope, Field, Michael H., Morison, Jonathon W., Amor, David J., Godler, David E.
Published in Scientific reports (25.10.2019)
Published in Scientific reports (25.10.2019)
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Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis
Aliaga, Solange M, Slater, Howard R, Francis, David, Du Sart, Desiree, Li, Xin, Amor, David J, Alliende, Angelica M, Santa Maria, Lorena, Faundes, Víctor, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Curotto, Bianca, Godler, David E
Published in Clinical chemistry (Baltimore, Md.) (01.02.2016)
Published in Clinical chemistry (Baltimore, Md.) (01.02.2016)
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Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
Arpone, Marta, Baker, Emma K., Bretherton, Lesley, Bui, Minh, Li, Xin, Whitaker, Simon, Dissanayake, Cheryl, Cohen, Jonathan, Hickerton, Chriselle, Rogers, Carolyn, Field, Mike, Elliott, Justine, Aliaga, Solange M., Ling, Ling, Francis, David, Hearps, Stephen J. C., Hunter, Matthew F., Amor, David J., Godler, David E.
Published in Scientific reports (26.02.2018)
Published in Scientific reports (26.02.2018)
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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
Hwang, Yun Tae, Aliaga, Solange Mabel, Arpone, Marta, Francis, David, Li, Xin, Chong, Belinda, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, Hunter, Matthew, Heard, Robert, Godler, David Eugeny
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
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Journal Article
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Baker, Emma K, Arpone, Marta, Aliaga, Solange M, Bretherton, Lesley, Kraan, Claudine M, Bui, Minh, Slater, Howard R, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E
Published in Molecular autism (03.05.2019)
Published in Molecular autism (03.05.2019)
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Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction
Prawer, Yael, Hunter, Matthew, Cronin, Sara, Ling, Ling, Aliaga Vera, Solange, Fahey, Michael, Gelfand, Nikki, Oertel, Ralph, Bartlett, Essra, Francis, David, Godler, David
Published in Genes (07.06.2018)
Published in Genes (07.06.2018)
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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
Baker, Emma K, Arpone, Marta, Vera, Solange Aliaga, Bretherton, Lesley, Ure, Alexandra, Kraan, Claudine M, Bui, Minh, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael J, Cohen, Jonathan, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E
Published in Journal of neurodevelopmental disorders (26.12.2019)
Published in Journal of neurodevelopmental disorders (26.12.2019)
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Journal Article
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles
Pandelache, Alison, Baker, Emma K, Aliaga, Solange M, Arpone, Marta, Forbes, Robin, Stark, Zornitza, Francis, David, Godler, David E
Published in Genes (05.04.2019)
Published in Genes (05.04.2019)
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Journal Article
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia
Hwang, Yun Tae, Dudding, Tracy, Aliaga, Solange Mabel, Arpone, Marta, Francis, David, Li, Xin, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, du Sart, Desirée, Heard, Robert, Godler, David Eugeny
Published in Genes (21.09.2016)
Published in Genes (21.09.2016)
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Journal Article
Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68
Hwang, Yun Tae, Dudding, Tracy, Aliaga, Solange Mabel, Arpone, Marta, Francis, David, Li, Xin, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, du Sart, Desirée, Heard, Robert, Godler, David Eugeny
Published in Genes (24.01.2017)
Published in Genes (24.01.2017)
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Journal Article
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile
Santa María, L., Pugin, A., Alliende, M.A., Aliaga, S., Curotto, B., Aravena, T., Tang, H.-T., Mendoza-Morales, G., Hagerman, R., Tassone, F.
Published in Clinical genetics (01.10.2014)
Published in Clinical genetics (01.10.2014)
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Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: Lessons for genetic counseling
Faundes, Víctor, María, Lorena Santa, Aliaga, Solange, Curotto, Bianca, Pugin, Angela, Alliende, María Angélica
Published in American journal of medical genetics. Part A (01.01.2015)
Published in American journal of medical genetics. Part A (01.01.2015)
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Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations
Santa María, Lorena, Faundes, Víctor, Curotto, Bianca, Morales, Paulina, Morales, Karla, Aliaga, Solange, Pugin, Ángela, Alliende, María Angélica
Published in Journal of applied genetics (01.02.2016)
Published in Journal of applied genetics (01.02.2016)
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Patients With Fragile X Syndrome Attending a Specialized Centre in Chile: Parent Satisfaction, Costs and Adherence
Faundes, Víctor, Salas, Isabel, Correa‐Burrows, Paulina, Soto, Paula, Peña, María Ignacia, Pugin, Ángela, Bravo, Paulina, Santa María, Lorena, Morales, Paulina, Curotto, Bianca, Aliaga, Solange, Alliende, María Angélica
Published in Journal of policy and practice in intellectual disabilities (01.03.2018)
Published in Journal of policy and practice in intellectual disabilities (01.03.2018)
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FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile
SANTA MARÍA, LORENA, ALIAGA, SOLANGE, FAUNDES, VÍCTOR, MORALES, PAULINA, PUGIN, ÁNGELA, CUROTTO, BIANCA, SOTO, PAULA, PEÑA, M. IGNACIA, SALAS, ISABEL, ALLIENDE, M. ANGÉLICA
Published in Genetical research (28.06.2016)
Published in Genetical research (28.06.2016)
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Journal Article
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing
Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K, Aliaga, Solange M, Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G, Palmer, Elizabeth E, Amor, David J, Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E
Published in International journal of molecular sciences (11.08.2019)
Published in International journal of molecular sciences (11.08.2019)
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