FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome von 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.

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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome von 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

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Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features von 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

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Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome von 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.

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Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis von 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

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FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile von Santa María, L., Pugin, A., Alliende, M.A., Aliaga, S., Curotto, B., Aravena, T., Tang, H.-T., Mendoza-Morales, G., Hagerman, R., Tassone, F.

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

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

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

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

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FMR1 mRNA from full mutation alleles is associated with ABC-C FX scores in males with fragile X syndrome von 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

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Patients With Fragile X Syndrome Attending a Specialized Centre in Chile: Parent Satisfaction, Costs and Adherence von 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

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Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial von Alliende, M Angélica, Cámpora, Laura, Curotto, Bianca, Toro, Jessica, Valiente, Alf, Castillo, Marcela, Cortés, Fanny, Trigo, César, Alvarado, Cecilia, Silva, Manuel, Caru, Margarita

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Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas von Faundes, Víctor, Santa María, Lorena, Morales, Paulina, Curotto, Bianca, Alliende, María Angélica

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Caracterización citogenético molecular de enfermedades genéticas en el Hospital Base de Puerto Montt von Alliende, M. Angélica, Curotto, Bianca, Guerra, Patricio, Santa María, Lorena, Hermosilla, Reinería, Orphanópoulus, Doris, Villanueva, Jorge, Wettig, Elizabeth, Barraza, Ximena

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Barber-Say syndrome: further delineation of the clinical spectrum von Cortés, Fanny M., Troncoso, Ledia A., Alliende, Angélica R., Curotto, Bianca L.

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Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital von Alliende, M Angélica, Curotto, Bianca, Guerra, Patricio, Santa María, Lorena, Hermosilla, Reinería, Orphanópoulos, Doris, Villanueva, Jorge, Wettig, Elizabeth, Barraza, Ximena

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Genetic screening to determine an etiologic diagnosis in children with mental retardation von Alliende, M Angélica, Cámpora, Laura, Curotto, Bianca, Toro, Jessica, Valiente, Alf, Castillo, Marcela, Cortés, Fanny, Trigo, César, Alvarado, Cecilia, Silva, Manuel, Caru, Margarita

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Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt von Alliende, M. Angélica, Curotto, Bianca, Guerra, Patricio, Santa María, Lorena, Hermosilla, Reinería, Orphanópoulos, Doris, Villanueva, Jorge, Wettig, Elizabeth, Barraza, Ximena

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FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile von SANTA MARÍA, LORENA, ALIAGA, SOLANGE, FAUNDES, VÍCTOR, MORALES, PAULINA, PUGIN, ÁNGELA, CUROTTO, BIANCA, SOTO, PAULA, PEÑA, M. IGNACIA, SALAS, ISABEL, ALLIENDE, M. ANGÉLICA

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