Publications by authors named "Lorena Santa Maria"

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Genetic and functional characterization of a novel structural variant in the gene by long-reads sequencing and structural modeling.
Viviana Gallardo, Alexis Gaete, Jonathan Maldonado, Paulina Morales, Angela Peña

Front Genet· October 2025

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Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome.
María Francisca Miranda, Víctor Faundes, María Angélica Alliende, Lorena Santa María

Orphanet J Rare Dis· September 2025

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Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro

Genet Med· April 2023

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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

Am J Med Genet A· February 2023

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Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.
Marta Arpone, Lesley Bretherton, David J Amor, Stephen J C Hearps, Carolyn Rogers, Lorena Santa Maria

Res Dev Disabil· December 2022

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Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
David E Godler, Ling Ling, Dinusha Gamage, Emma K Baker, Minh Bui, Lorena Santa Maria

JAMA Netw Open· January 2022

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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

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, Lorena Santa Maria

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, Lorena Santa Maria

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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Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
Deborah A Hall, Erin Robertson, Annie L Shelton, Molly C Losh, Montserrat Mila, Lorena Santa Maria

Cerebellum· October 2016

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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

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, Lorena Santa Maria

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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Signals from damaged but not undamaged skeletal muscle induce myogenic differentiation of rat bone-marrow-derived mesenchymal stem cells.
Lorena Santa María, Cecilia V Rojas, José J Minguell

Exp Cell Res· November 2004

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[Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ].
Felipe Nitsche, M Angélica Alliende, J Luis Santos, Francisco Pérez, Lorena Santa María

Rev Med Chil· December 2003

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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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A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
Cecilia V Rojas, Lorena Santa María, José Luis Santos, Fanny Cortés, María Angélica Alliende

Eur J Hum Genet· October 2002

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