Výsledky vyhledávání - "Rebeca Valero"

Akademický článek

La tabla periódica de las mujeres científicas: construyendo y jugando

Autor: M. José Arnau, Cristina Pertegás, Encarna Alcácer, Rebeca Valero, José M. Rubio

Publikováno v: Modelling in Science Education and Learning, Vol 12, Iss 2, Pp 135-152 (2019)

Con objeto de visibilizar el trabajo de las mujeres en Ciencia y aprovechando que el año 2019 ha sido declarado por Naciones Unidas año internacional de la Tabla Periódica (A/RES/72/228) se ha planteado como proyecto la elaboración de una Tabla P

Externí odkaz: https://doaj.org/article/3d3703fe23b8474c91f19c25002ad54d

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The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes

Autor: Cristina Villanueva-Mendoza, David Apam-Garduño, Jean Remi Trotta, Vianney Cortés-González, Gemma Marfany, Rebeca Valero, Miquel Tuson, Raul Tonda, Marta de Castro-Miró, Roser Gonzàlez-Duarte

Publikováno v: Genes, Vol 12, Iss 1824, p 1824 (2021)
Dipòsit Digital de la UB
Universidad de Barcelona
Genes
Volume 12
Issue 11

In this work, we aimed to provide the genetic diagnosis of a large cohort of patients affected with inherited retinal dystrophies (IRDs) from Mexico. Our data add valuable information to the genetic portrait in rare ocular diseases of Mesoamerican po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c623eeab64ab4485ae3531125b2437c
http://hdl.handle.net/2445/184072

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The periodic table of women scientists: building and playing

Autor: Rebeca Valero, Encarna Alcácer, M. José Arnau, José M. Rubio, Cristina Pertegás

Publikováno v: Modelling in Science Education and Learning, Vol 12, Iss 2, Pp 135-152 (2019)
RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instname

[ES] Con objeto de visibilizar el trabajo de las mujeres en Ciencia y aprovechando que el año 2019 ha sido declarado por Naciones Unidas año internacional de la Tabla Periódica (A/RES/72/228) se ha planteado como proyecto la elaboración de una Ta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84da15e678d9412cffa01553f8fb975
https://polipapers.upv.es/index.php/MSEL/article/view/12152

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Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Autor: Jaume Català-Mora, Marcela Ciccioli, Gemma Marfany, Juliana Ferraz Sallum, Roser Gonzàlez-Duarte, Vianney Cortés-González, Marta de Castro-Miró, Vasileios Toulis, Rebeca Valero, Cristina Villanueva-Mendoza

Publikováno v: GENES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Genes, Vol 11, Iss 378, p 378 (2020)
Dipòsit Digital de la UB
Universidad de Barcelona
Genes
Volume 11
Issue 4
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Aims: We aimed to validate the pathogenicity of genetic variants identified in inherited retinal dystrophy (IRD) patients, which were located in non-canonical splice sites (NCSS). Methods: After next generation sequencing (NGS) analysis (target gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ac54124192f6f30709ccf87f0435d2
https://www.mdpi.com/2073-4425/11/4/378

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Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies

Autor: Roser, Gonzàlez-Duarte, Marta, de Castro-Miró, Miquel, Tuson, Valeria, Ramírez-Castañeda, Rebeca Valero, Gils, Gemma, Marfany

Publikováno v: Advances in experimental medicine and biology. 1185

During the last 20 years, our group has focused on identifying the genes and mutations causative of inherited retinal dystrophies (IRDs). By applying massive sequencing approaches (NGS) in more than 500 familial and sporadic cases, we attained high d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ca582e8f09db1e71325a61be9896967c
https://pubmed.ncbi.nlm.nih.gov/31884614

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Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies

Autor: Miquel Tuson, Rebeca Valero Gils, Marta de Castro-Miró, Valeria Ramírez-Castañeda, Roser Gonzàlez-Duarte, Gemma Marfany

Publikováno v: Retinal Degenerative Diseases ISBN: 9783030273774

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2f79b0c529174d16349e6caf3974bedf
https://doi.org/10.1007/978-3-030-27378-1_35

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Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

Autor: Rebeca Valero, Gemma Marfany, Marta de Castro-Miró, Roser Gonzàlez-Duarte, Juan José Rodríguez-Ezcurra, Sofía Jiménez-Ochoa

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Genes, Vol 10, Iss 10, p 732 (2019)
Genes
Volume 10
Issue 10

Aims: The aim of this study was the genetic diagnosis by next generation sequencing (NGS) of a patient diagnosed with Usher syndrome type 2 and the functional evaluation of the identified genetic variants to establish a phenotype&ndash
genotype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d3c29ac3776467fd4e32542a5f80cd
http://hdl.handle.net/2445/176050

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Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM

Autor: Pilar Poo, Mami Yamasaki, Eugenia Monros, Nobuhiko Okamoto, Yonehiro Kanemura, Rebeca Valero, Rolando F. Del Maestro

Publikováno v: Journal of Human Genetics. 49:334-337

Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural-cell adhesion molecules, are associated with X-linked hydrocephalus and some allelic disorders. Hirschsprung's disease (HSCR) is characterized by the absence o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad2ded2452e8bb81445b38f3d214ae88
https://doi.org/10.1007/s10038-004-0153-4

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USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11.2

Autor: Luis Puelles, Gemma Marfany, Rebeca Valero, Olga González-Angulo, Gertrudis González-González, Roser Gonzàlez-Duarte

Publikováno v: Genomics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

We have identified a new gene, USP25, spanning over 150 kb at 21q11. 2, one of the lowest gene-density regions of the human genome. USP25 is made up of 25 exons and encodes a 1087-aa protein. Database comparisons reveal high homology with members of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcae8bbcf4cee621b4b5243a18c6be2d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11717

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[Untitled]

Autor: Gemma Marfany, Rebeca Valero, M Francisca Sánchez-Font, Olga González-Angulo, Mònica Bayés, Roser Gonzàlez-Duarte

Publikováno v: Genome Biology. 2:research0043.1

Background: The ubiquitin-dependent protein degradation pathway is essential for the proteolysis of intracellular proteins and peptides. Deubiquitinating enzymes constitute a complex protein family involved in a multitude of cellular processes. The u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e1411d3be40fe7a5fb4c4b73639044ff
https://doi.org/10.1186/gb-2001-2-10-research0043

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