Zobrazeno 1 - 6
of 6
pro vyhledávání: '"M. Jose Trujillo-Tiebas"'
Autor:
Elena Vallespín, Jana Aguirre-Lamban, Carmen Ramos, Diego Cantalapiedra, Almudena Avila-Fernandez, M. Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Carmen Ayuso, M Angel Lopez-Martinez
Publikováno v:
The British Journal of Ophthalmology
Background/aims: To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in Spanish population. Methods: 133 arSTGD patients were analysed using the AB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::537c7d47d5f959b963417b1387310367
https://doi.org/10.1136/bjo.2008.148155
https://doi.org/10.1136/bjo.2008.148155
Autor:
D. Diego Alvarez, Carmen Ayuso, Carmen Ramos, J. Díaz-Recasens, M. Cristina González-González, M. Rodriguez de Alba, M. Jose Trujillo-Tiebas, A. Bustamante Aragonés, Maria Garcia-Hoyos
We focused on the improvements of prenatal diagnosis by the analysis of DNA from maternal plasma, using Huntington disease as a model of disease.We studied plasma from a pregnancy at risk of having a fetus affected with Huntington disease by the use
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c47a376caf5f3243d51cd058adffd4
https://europepmc.org/articles/PMC2582097/
https://europepmc.org/articles/PMC2582097/
Autor:
Ana Bustamante-Aragones, Isabel Lorda-Sanchez, Cristina Gonzalez-Gonzalez, Dan Diego-Alvarez, Carmen Ramos, Carmen Ayuso, Maria Garcia-Hoyos, M. Jose Trujillo-Tiebas, Marta Rodriguez de Alba
Publikováno v:
Annals of the New York Academy of Sciences. 1075
The discovery of circulating fetal DNA in maternal blood has been an encouraging step forward in the prenatal diagnostic field. It has opened up the possibility of development of a noninvasive method for the genetic analysis of the fetus. Many techni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12b73f8f3fd2015bf549cc16dc850a6c
https://pubmed.ncbi.nlm.nih.gov/17108199
https://pubmed.ncbi.nlm.nih.gov/17108199
Autor:
Jesús Gallego, Carmen Ayuso, Fernando Infantes, Marta Rodriguez de Alba, M. Jose Trujillo-Tiebas, Carmen Ramos, J. Díaz-Recasens, Maria Garcia-Hoyos, Isabel Lorda-Sanchez, Cristina Gonzalez-Gonzalez
Publikováno v:
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. 53(3)
Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. So far, different studies have shown mainly fetal sex, fetal RhD, and quantitative variations of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c48e9caef57957f0d9edc5d202881d92
https://pubmed.ncbi.nlm.nih.gov/15750008
https://pubmed.ncbi.nlm.nih.gov/15750008
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Akademický článek
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