Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Alejandra Damián"'
Autor:
Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso, Marta Corton
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-12 (2023)
Abstract Background Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia. 11p13 microdeletions altering PAX6 or its downstream regulatory region (
Externí odkaz:
https://doaj.org/article/d7b6bf8c425a4fb8968b32b2ebc4f0c9
Autor:
Raquel Romero, Lorena de la Fuente, Marta Del Pozo-Valero, Rosa Riveiro-Álvarez, María José Trujillo-Tiebas, Inmaculada Martín-Mérida, Almudena Ávila-Fernández, Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Alejandra Damián, Cristina Rodilla, Berta Almoguera, Marta Cortón, Carmen Ayuso, Pablo Mínguez
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Abstract Clinical exome (CE) sequencing has become a first-tier diagnostic test for hereditary diseases; however, its diagnostic rate is around 30–50%. In this study, we aimed to increase the diagnostic yield of CE using a custom reanalysis algorit
Externí odkaz:
https://doaj.org/article/ae4b39ea517a4dbcb32d87c55ae5d62a
Autor:
Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Lorena de la Fuente, Raquel Romero, Almudena Ávila-Fernandez, María José Trujillo-Tiebas, Rosa Riveiro-Álvarez, Berta Almoguera, Inmaculada Martín-Mérida, Marta Del Pozo-Valero, Alejandra Damián-Verde, Marta Cortón, Carmen Ayuso, Pablo Minguez
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 15, p 8431 (2022)
The introduction of NGS in genetic diagnosis has increased the repertoire of variants and genes involved and the amount of genomic information produced. We built an allelic-frequency (AF) database for a heterogeneous cohort of genetic diseases to exp
Externí odkaz:
https://doaj.org/article/a50b74d0c84147d58cb572f9d3b384d3
Autor:
Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, Alejandra Tamayo, María José Trujillo-Tiebas, María Carmen Cotarelo-Pérez, Olga Pérez Rodríguez, Cristina Villaverde, Lorena de la Fuente, Raquel Romero, Gonzalo Núñez-Moreno, Pablo Mínguez, Carmen Ayuso, Marta Cortón
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 23, p 12713 (2021)
Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases. Mutations in the NHS gene cause Nance-Horan syndrome, an X-linked disorder characterised by c
Externí odkaz:
https://doaj.org/article/cf9e0ed6b0a649daaa5350e04a283313
Autor:
Richard Holt, David Goudie, Alejandra Damián Verde, Alice Gardham, Francis Ramond, Audrey Putoux, Ajoy Sarkar, Virginia Clowes, Jill Clayton-Smith, Siddharth Banka, Laura Cortazar Galarza, Gilles Thuret, Marta Ubeda Erviti, Ane Zurutuza Ibarguren, Raquel Sáez Villaverde, Alejandra Tamayo Durán, Carmen Ayuso, Dorine A Bax, Julie Plaisancie, Marta Corton, Nicolas Chassaing, Patrick Calvas, Nicola K Ragge
Publikováno v:
Ophthalmic Genetics. 43:809-816
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ecd84033d347a6aa82f798fff34786b
https://doi.org/10.1080/13816810.2022.2144905
https://doi.org/10.1080/13816810.2022.2144905
Akademický článek
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Autor:
Avilene, Rodríguez Lara, María Dolores, Mesa-García, Karla Alejandra Damián, Medina, Rosa, Quirantes Piné, Rafael A, Casuso, Antonio, Segura Carretero, Jesús Rodríguez, Huertas
Publikováno v:
Foods
Chia seeds are rich sources of different macro and micronutrients associated with health benefits; thus, they may be considered as a functional food. However, the composition depends on the variety, origin, climate and soil. Here, we show a comprehen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::27b5068e3ad69c613d9ccce9e4a9c738
https://pubmed.ncbi.nlm.nih.gov/34945556
https://pubmed.ncbi.nlm.nih.gov/34945556
Akademický článek
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Publikováno v:
Universidad Michoacana de San Nicolás de Hidalgo
UMSNH
Repositorio Institucional de la Universidad Michoacana de San Nicolás de Hidalgo
UMSNH
Repositorio Institucional de la Universidad Michoacana de San Nicolás de Hidalgo
Instituto de Investigaciones Químico Biológicas. Maestría en Ciencias en Biología Experimental In the present work six analogs of nicardipine with substituent (NO2, CH1, F, Cl, Br, or H) were synthesized in position for the 4-phenyl ring (SAD ser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::1c648610c4fb05cc59c998d21e9db66b
http://bibliotecavirtual.dgb.umich.mx:8083/xmlui/handle/DGB_UMICH/3891
http://bibliotecavirtual.dgb.umich.mx:8083/xmlui/handle/DGB_UMICH/3891
Autor:
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1562 (2023)
PAX6 haploinsufficiency causes aniridia, a congenital eye disorder that involves the iris, and foveal hypoplasia. Comprehensive screening of the PAX6 locus, including the non-coding regions, by next-generation sequencing revealed four deep-intronic v
Externí odkaz:
https://doaj.org/article/6b35d5b8f177485b8d9dccf67ba6f1e0