Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Laura Yuriko González- Teshima"'
Publikováno v:
Journal of Family and Reproductive Health, Vol 15, Iss 2 (2021)
Objective: To evidence the need for screening fragile X syndrome (FXS) in egg donors in assisted reproduction protocols. Case report: This is the report of a boy with FXS who inherited the mutated allele from an ovule donated by the mother´s sister
Externí odkaz:
https://doaj.org/article/cdee3fa967d94cc7b57883d195b9d4d0
Autor:
Flora Tassone, Hiu Tung Tang, Laura Yuriko González-Teshima, Wilmar Saldarriaga, Jose Vicente Forero-Forero
Publikováno v:
Journal of Intellectual Disabilities. 26:800-807
Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e88df85e2f223b5638e86814e37492
https://doi.org/10.1177/1744629521995346
https://doi.org/10.1177/1744629521995346
Autor:
Laura Yuriko González-Teshima, Fabio Samir Vargas-Cely, Juan Sebastián Muñoz-Sandoval, Julián Ramírez-Cheyne, Wilmar Saldarriaga-Gil
Publikováno v:
Revista Colombiana de Obstetricia y Ginecología, Vol 67, Iss 1 (2016)
Objetivo: aportar al ginecólogo herramientas para la identificación de pacientes con riesgo de síndrome de cáncer hereditario de mama y ovario (SCHMO), y brindar consejería en el manejo preventivo de pacientes con este síndrome. Materiales y m
Externí odkaz:
https://doaj.org/article/551a7ef4fa3a4606b660072dfc69f493
Autor:
Laura María Rodríguez Santa, Laura Yuriko González Teshima, Jose Vicente Forero Forero, Andres Orlando Castillo Giraldo
Publikováno v:
Journal of Pregnancy, Vol 2015 (2015)
In recent years, microRNAs (miRNAs) have been the focus of research for their role in posttranscriptional regulation and as potential biomarkers of risk for disease development. Their identification in specific physiological processes, like angiogene
Externí odkaz:
https://doaj.org/article/7893a4762d3c45cfb2abe90d49f90d85
Autor:
Wilmar Saldarriaga, César Payán-Gómez, Randi J Hagerman, Laura Yuriko González-Teshima, Flora Tassone, Lina Rosa
Publikováno v:
Journal of developmental and behavioral pediatrics : JDBP. 41(9)
BACKGROUND Fragile X syndrome (FXS) is an X-linked genetic disorder caused by the absence of the fragile X mental retardation 1 protein. FXS is the most common inherited cause of intellectual disability and autism spectrum disorder (ASD). Approximate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22e05941f875f82b4879366350cec751
https://pubmed.ncbi.nlm.nih.gov/32947579
https://pubmed.ncbi.nlm.nih.gov/32947579
Autor:
Laura Yuriko González-Teshima, Antonio Madrid, Jose Vicente Forero-Forero, Wilmar Saldarriaga, Julián Ramírez-Cheyne
Publikováno v:
Revista Colombiana de Cardiología, Vol 23, Iss 5, Pp 443-452 (2016)
ResumenEl síndrome de deleción 22q11 consiste en una agrupación variable de características fenotípicas secundarias a la pérdida del material genético localizado en la banda 22q11.2. El espectro de deleción del 22q11 abarca varios síndromes,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80c3140145cf13c2778189a08d363cec
Autor:
Santhosh Girirajan, Carolina Isaza, Randi J Hagerman, Marisol Silva, Andrew Polyak, Wilmar Saldarriaga, Pamela J. Lein, Flora Tassone, Lina Rosa, Laura Yuriko González Teshima
Publikováno v:
NeuroToxicology. 53:141-147
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf5091af941e58843e1e753c0af1f0c
https://doi.org/10.1016/j.neuro.2016.01.008
https://doi.org/10.1016/j.neuro.2016.01.008
Autor:
Wilmar Saldarriaga Gil, Jose Vicente Forero Forero, Randi J Hagerman, Laura Yuriko González Teshima
Publikováno v:
Acta Neurológica Colombiana. 31:325-334
^les^aEl sindrome de temblor y ataxia asociado al sindrome del cromosoma X fragil (FXTAS) es un desorden neurodegenerativo progresivo (1), de inicio tardio, que ocurre entre los portadores de la premutacion del gen FMR1 (Fragile X Mental Retardation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::786422069be75f81f046d7db8a2c804f
https://doi.org/10.22379/2422402248
https://doi.org/10.22379/2422402248
Autor:
Hiu Tung Tang, José Rafael Tovar-Cuevas, Randi J Hagerman, Wilmar Saldarriaga, Carolina Isaza, Andrés Fandiño-Losada, Marisol Silva, Nimrah S. Choudhary, Jose Vicente Forero-Forero, Flora Tassone, Sergio Aguilar-Gaxiola, Laura Yuriko González-Teshima
Publikováno v:
Journal of human genetics. 63(4)
Background Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene FMR1 in the general population is 0.2-0.4 per 1000 males and 0.125-0.4 per 1000 fem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::902ddf8c2a6d54535353d8f15512ea3b
https://pubmed.ncbi.nlm.nih.gov/29379191
https://pubmed.ncbi.nlm.nih.gov/29379191
Autor:
Ana Maria Cabal-Herrera, Jose Vicente Forero-Forero, Laura Yuriko González-Teshima, Andrés Castillo-Giraldo, Julián Ramírez-Cheyne
Publikováno v:
IATREIA. 29
The objective of this review is to evidence the potential of micro-RNAs (mi-RNAs) as possible diagnostic biomarkers in different diseases. Micro-RNAs are nucleic acids of 22 nucleotides that regulate the translation of coding messenger RNAs (mRNAs),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4cb3080a4b614cafdb9ebd0af32d7b4
https://doi.org/10.17533/udea.iatreia.v29n3a07
https://doi.org/10.17533/udea.iatreia.v29n3a07