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 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome
Baker, Emma K., Arpone, Marta, Kraan, Claudine, Bui, Minh, Rogers, Carolyn, Field, Michael, Bretherton, Lesley, Ling, Ling, Ure, Alexandra, Cohen, Jonathan, Hunter, Matthew F., Santa María, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David J., Godler, David E.
Published in Scientific reports (16.07.2020)
Published in Scientific reports (16.07.2020)
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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
Arpone, Marta, Bretherton, Lesley, Amor, David J., Hearps, Stephen J.C., Rogers, Carolyn, Field, Michael J., Hunter, Matthew F., Santa Maria, Lorena, Alliende, Angelica M., Slee, Jennie, Godler, David E., Baker, Emma K.
Published in Research in developmental disabilities (01.12.2022)
Published in Research in developmental disabilities (01.12.2022)
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Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
Baker, Emma K., Arpone, Marta, Bui, Minh, Kraan, Claudine M., Ling, Ling, Francis, David, Hunter, Mathew F., Rogers, Carolyn, Field, Michael J., Santa María, Lorena, Faundes, Víctor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
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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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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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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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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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Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow
Godler, David E, Ling, Ling, Gamage, Dinusha, Baker, Emma K, Bui, Minh, Field, Michael J, Rogers, Carolyn, Butler, Merlin G, Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E, Skinner, Cindy D, Alliende, Angelica M, Santa Maria, Lorena, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J
Published in JAMA network open (04.01.2022)
Published in JAMA network open (04.01.2022)
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Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
Alliende, M Angélica, Cámpora, Laura, Curotto, Bianca, Toro, Jessica, Valiente, Alf, Castillo, Marcela, Cortés, Fanny, Trigo, César, Alvarado, Cecilia, Silva, Manuel, Caru, Margarita
Published in Revista medíca de Chile (01.12.2008)
Published in Revista medíca de Chile (01.12.2008)
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Genetic screening to determine an etiologic diagnosis in children with mental retardation
Alliende, M Angélica, Cámpora, Laura, Curotto, Bianca, Toro, Jessica, Valiente, Alf, Castillo, Marcela, Cortés, Fanny, Trigo, César, Alvarado, Cecilia, Silva, Manuel, Caru, Margarita
Published in Revista medíca de Chile (01.12.2008)
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Published in Revista medíca de Chile (01.12.2008)
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Methylation status in healthy subjects with normal and high serum folate concentration
Hirsch, Sandra, M.D., M.Sc, Ronco, Ana María, Ph.D, Guerrero-Bosagna, Carlos, Ph.D, de la Maza, María Pía, M.D., M.Sc, Leiva, Laura, M.Sc, Barrera, Gladys, R.N, Llanos, Miguel, Ph.D, Alliende, M. Angelica, M.Sc, Silva, Francisca, M.D, Bunout, Daniel, M.D
Published in Nutrition (Burbank, Los Angeles County, Calif.) (01.11.2008)
Published in Nutrition (Burbank, Los Angeles County, Calif.) (01.11.2008)
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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
Rojas, Cecilia V, María, Lorena Santa, Santos, José Luis, Cortés, Fanny, Alliende, María Angélica
Published in European journal of human genetics : EJHG (01.10.2002)
Published in European journal of human genetics : EJHG (01.10.2002)
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Sistemática, taxonomía y domesticación de alpacas y llamas: nueva evidencia cromosómica y molecular
MARÍN, JUAN C, ZAPATA, BEATRIZ, GONZÁLEZ, BENITO A, BONACIC, CRISTIAN, WHEELER, JANE C, CASEY, CIARA, BRUFORD, MICHAEL W, PALMA, R. EDUARDO, POULIN, ELIE, ALLIENDE, M. ANGÉLICA, SPOTORNO, ÁNGEL E
Published in Revista chilena de historia natural (01.06.2007)
Published in Revista chilena de historia natural (01.06.2007)
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Barber-Say syndrome: further delineation of the clinical spectrum
Cortés, Fanny M., Troncoso, Ledia A., Alliende, Angélica R., Curotto, Bianca L.
Published in Genetics and molecular biology (01.06.2000)
Published in Genetics and molecular biology (01.06.2000)
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Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital
Alliende, M Angélica, Curotto, Bianca, Guerra, Patricio, Santa María, Lorena, Hermosilla, Reinería, Orphanópoulos, Doris, Villanueva, Jorge, Wettig, Elizabeth, Barraza, Ximena
Published in Revista medíca de Chile (01.03.2011)
Published in Revista medíca de Chile (01.03.2011)
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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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