Publications by authors named "Bianca Curotto"

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Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Emma K Baker, Marta Arpone, Minh Bui, Claudine M Kraan, Ling Ling, Bianca Curotto

Am J Med Genet A· February 2023

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FMR1 mRNA from full mutation alleles is associated with ABC-C scores in males with fragile X syndrome.
Emma K Baker, Marta Arpone, Claudine Kraan, Minh Bui, Carolyn Rogers, Bianca Curotto

Sci Rep· July 2020

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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, Bianca Curotto

Mol Autism· June 2020

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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
Emma K Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Bianca Curotto

J Neurodev Disord· December 2019

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[Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities].
Víctor Faundes, Lorena Santa María, Paulina Morales, Bianca Curotto, María Angélica Alliende

Rev Med Chil· July 2017

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Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation.
Víctor Faundes, Lorena Santa María, Paulina Morales, Bianca Curotto, María M Parraguez

Mol Syndromol· October 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, Bianca Curotto

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

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, Bianca Curotto

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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[Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital].
M Angélica Alliende, Bianca Curotto, Patricio Guerra, Lorena Santa María, Reinería Hermosilla

Rev Med Chil· March 2011

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[Genetic screening to determine an etiologic diagnosis in children with mental retardation].
M Angélica Alliende, Laura Cámpora, Bianca Curotto, Jessica Toro, Alf Valiente

Rev Med Chil· December 2008

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Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation.
Angélica Alliende, Bianca Curotto, Lorena Santa Maria, Fanny Cortés, Mariana Aracena

Am J Med Genet· December 2002

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[Fragile X syndrome: report of the 1st case confirmed cytogenetically in Chile].
Y Lacassie, R Moreno, F de la Barra, T M Bianca Curotto, T M Angélica Alliende

Rev Chil Pediatr· September 1984

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