Výsledky vyhledávání - "María Angélica Alliende"

Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas

Autor: María Angélica Alliende, Bianca Curotto, Lorena Santa María, Paulina Morales, Víctor Faundes

Publikováno v: Revista médica de Chile. 145:854-861

Background: In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA). Aim: To analyze the results of CMA performed at the INTA Laboratory of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::21864abf7a3cf4ae79f1e4e3150ff9cd
https://doi.org/10.4067/s0034-98872017000700854

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Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil

Autor: Paula Soto, L. Santa María, María Angélica Alliende, Bianca Curotto, Isabel Salas, M.I. Peña, Solange M. Aliaga, Ángela Pugin, Víctor Faundes, Paulina Bravo

Publikováno v: Neurología, Vol 32, Iss 4, Pp 241-252 (2017)

Resumen: Introducción: El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia. En este trabajo se revisan la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25206201c3c9dca68ad77e1f5edde2b6
http://www.sciencedirect.com/science/article/pii/S0213485314002321

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Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations

Autor: Karla Morales, Solange M. Aliaga, Víctor Faundes, Ángela Pugin, Lorena Santa María, Paulina Morales, Bianca Curotto, María Angélica Alliende

Publikováno v: Journal of Applied Genetics. 57:63-69

Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but subtelomeric fluorescence in si

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38ea5eb78d57a39fb5a53d657d3f69c3
https://doi.org/10.1007/s13353-015-0295-4

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[Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities]

Autor: Víctor, Faundes, Lorena, Santa María, Paulina, Morales, Bianca, Curotto, María Angélica, Alliende

Publikováno v: Revista medica de Chile. 145(7)

In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA).To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2ba7cf18085a7301647e0f58acbfd5eb
https://pubmed.ncbi.nlm.nih.gov/29182193

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FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile

Autor: Solange M. Aliaga, Guadalupe Mendoza-Morales, Ángela Pugin, T. Aravena, Randi J Hagerman, Hiu-Tung Tang, Bianca Curotto, María Angélica Alliende, Flora Tassone, L. Santa María

Publikováno v: Clinical Genetics. 86:378-382

Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e1b472bab9e14ce3623919db7a8238b2
https://doi.org/10.1111/cge.12278

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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

Autor: Lorena Santa María, Cecilia V. Rojas, María Angélica Alliende, Fanny Cortés, José Luis Santos

Publikováno v: European Journal of Human Genetics. 10:638-642

Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for alpha- and beta-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in cone photoreceptors. Hi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b4d0e31ab70724706b5d94d8389399e
https://doi.org/10.1038/sj.ejhg.5200856

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Clinical, molecular, and pharmacological aspects of FMR1 related disorders

Autor: Ángela Pugin, Bianca Curotto, Paula Soto, L. Santa María, Solange M. Aliaga, Paulina Bravo, Víctor Faundes, M.I. Peña, María Angélica Alliende, Isabel Salas

Publikováno v: Neurología (English Edition), Vol 32, Iss 4, Pp 241-252 (2017)

Background: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6599f13473e1667fb1f9f511747eac4
https://pubmed.ncbi.nlm.nih.gov/25529181

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Hallazgos citogenéticos en pacientes con síndrome de Down

Autor: Bianca Curotto L, Fanny Cortés M, María Angélica Alliende R

Publikováno v: Revista chilena de pediatría v.61 n.6 1990
SciELO Chile
CONICYT Chile
instacron:CONICYT
Revista chilena de pediatría, Volume: 61, Issue: 6, Pages: 313-316, Published: DEC 1990

Non classic 21 trisomy in Down's syndrome In order to describe the frequency of non classical forms of 21 trisomy in patients with Down's syndrome at the cytogenetic's laboratory of our institution (Institute de Nutrition y Tecnologi'a de los Aliment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4840cdfe1cdc41419fb5e2e5db96aa57
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41061990000600004

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