Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function
Castro, A., Rodríguez, F., Flórez, M., López, P., Curotto, B., Martínez, D., Maturana, A., Lardone, M.C., Palma, C., Mericq, V., Ebensperger, M., Cassorla, F.
Published in Human reproduction (Oxford) (01.02.2017)
Published in Human reproduction (Oxford) (01.02.2017)
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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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Journal Article
Clinical, molecular, and pharmacological aspects of FMR1 related disorders
Pugin, A, Faundes, V, Santa María, L, Curotto, B, Aliaga, S, Salas, I, Soto, P, Bravo, P, Peña, M I, Alliende, M A
Published in Neurologia (Barcelona, Spain) (01.05.2017)
Published in Neurologia (Barcelona, Spain) (01.05.2017)
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Journal Article
Clinical, molecular, and pharmacological aspects of FMR1-related disorders
Pugin, A., Faundes, V., Santa María, L., Curotto, B., Aliaga, S., Salas, I., Soto, P., Bravo, P., Peña, M.I., Alliende, M.A.
Published in Neurología (Barcelona, English ed. ) (01.05.2017)
Published in Neurología (Barcelona, English ed. ) (01.05.2017)
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Journal Article
Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil
Pugin, A, Faundes, V, Santa María, L, Curotto, B, Aliaga, S, Salas, I, Soto, P, Bravo, P, Peña, M.I, Alliende, M.A
Published in Neurología (Barcelona, Spain) (01.05.2017)
Published in Neurología (Barcelona, Spain) (01.05.2017)
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Journal Article
CARACTERIZACIÓN MOLECULAR DE CARIOTIPO DESBALANCEADO 45,X,add(13)(p10) DE HOMBRE CON AZOOSPERMIA
Pena, A, Curotto, B, Morales, P, Quiroga, A, Faúndes, V
Published in BAG. Journal of basic and applied genetics (01.10.2021)
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Published in BAG. Journal of basic and applied genetics (01.10.2021)
Journal Article
Clinical and Cytogenetical diagnosis in the Fragil X Syndrome
Cortés, F, Curotto, B, Rios, L, Barrios, A, Alliende, M A
Published in Pediatric research (01.02.1996)
Published in Pediatric research (01.02.1996)
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Journal Article
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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Journal Article
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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Journal Article
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)
Journal Article
Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome
Cortés M, Fanny, Alliende R, M Angélica, Barrios R, Andrés, Curotto L, Bianca, Santa María V, Lorena, Barraza O, Ximena, Troncoso A, Ledia, Mellado S, Cecilia, Pardo V, Rosa
Published in Revista medíca de Chile (01.01.2005)
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Published in Revista medíca de Chile (01.01.2005)
Journal Article
Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis
Santa María, L, Curotto, B, Cortés, F, Rojas, C, Alliende, M A
Published in Revista medíca de Chile (01.04.2001)
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Published in Revista medíca de Chile (01.04.2001)
Journal Article
Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families
Alliende, M A, Urzúa, B, Valiente, A, Cortés, F, Curotto, B, Rojas, C
Published in Revista medíca de Chile (01.12.1998)
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Published in Revista medíca de Chile (01.12.1998)
Journal Article
Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation
Alliende, Angélica, Curotto, Bianca, Santa Maria, Lorena, Cortés, Fanny, Aracena, Mariana
Published in American journal of medical genetics (01.12.2002)
Published in American journal of medical genetics (01.12.2002)
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Journal Article
Chromosomal studies in infants with severe protein-calorie malnutrition
Moreno, R, Curotto, B, Seebach, C, Lacassie, Y
Published in Revista Chilena de pediatría (01.09.1982)
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Published in Revista Chilena de pediatría (01.09.1982)
Journal Article
Phenotypic screening for X-linked mental retardation: fragile Xq syndrome
Lacassie, I, Zavala, A B, Curotto, B, Alliende, M A, De Andraca, I
Published in Revista Chilena de pediatría (01.09.1982)
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Published in Revista Chilena de pediatría (01.09.1982)
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