Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Montse Pauta"'
Autor:
Bernat Córdoba-Jover, Altamira Arce-Cerezo, Jordi Ribera, Montse Pauta, Denise Oró, Gregori Casals, Guillermo Fernández-Varo, Eudald Casals, Victor Puntes, Wladimiro Jiménez, Manuel Morales-Ruiz
Publikováno v:
Journal of Nanobiotechnology, Vol 17, Iss 1, Pp 1-12 (2019)
Abstract Background and aims Cerium oxide nanoparticles are effective scavengers of reactive oxygen species and have been proposed as a treatment for oxidative stress-related diseases. Consequently, we aimed to investigate the effect of these nanopar
Externí odkaz:
https://doaj.org/article/7f909eb33ae542cbac680be23ade6ce0
Autor:
Montse Pauta, Cèlia Badenas, Laia Rodriguez-Revenga, Anna Soler, Maribel Grande, Joan Sabrià, Carmen Illanes, Virginia Borobio, Antoni Borrell
Publikováno v:
Frontiers in Genetics, Vol 11 (2021)
Objective: To explore the use of a new molecular work-up based on the stepwise use of Quantitative Fluorescence PCR (QF-PCR) extended to eight chromosomes and single nucleotide polymorphism array (SNP-array) in chorionic villi obtained by chorionic v
Externí odkaz:
https://doaj.org/article/c88551af06ab4401951e598e5fdc01a5
Autor:
Marta Larroya, Marta Tortajada, Eduard Mensión, Montse Pauta, Laia Rodriguez-Revenga, Antoni Borrell
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0253866 (2021)
The objective of this study was to determine whether maternal or paternal ages have any impact on the prenatal incidence of genomic copy number variants (CNV) in fetuses with structural anomalies. We conducted a non-paired case-control study (1:2 rat
Externí odkaz:
https://doaj.org/article/9dcc43ef41f842af80d94d3212db6d46
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
ObjectiveTo assess the impact of prenatal genetic counseling on the attitudes and preferences toward invasive testing in first-trimester pregnant women.MethodsThis is a randomized open-label study, of pregnant women undergoing first trimester combine
Externí odkaz:
https://doaj.org/article/ebba95f111fc45509b629fb2b36d5ad5
The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole
Autor:
Leticia Benítez, Montse Pauta, Cèlia Badenas, Irene Madrigal, Alfons Nadal, Edda Marimon, Antoni Borrell
Publikováno v:
Diagnostics, Vol 11, Iss 10, p 1811 (2021)
Objective: the aim of our study was to assess the contribution of quantitative fluorescent polymerase chain reaction (QF-PCR) and pathology studies in the diagnosis of diandric triploidies/partial hydatidiform moles. Methods: this study included all
Externí odkaz:
https://doaj.org/article/050ff952a19042888503edb8047f2623
Publikováno v:
Prenatal Diagnosis. 43:596-604
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88a66108a6e488c572df3f0c9f1e5327
https://doi.org/10.1002/pd.6339
https://doi.org/10.1002/pd.6339
Autor:
Berta Campos, Alfons Nadal, Virginia Borobio Florián, Maria Segura Puimedon, Montse Pauta, Anna Vallmajó Fita, Rafael Oliva, Olga Gómez Del Rincón, Gerard Frigola, Antoni Borrell
Publikováno v:
Virchows Archiv. 479:413-418
Steel syndrome (STLS) encompasses characteristic facies, dwarfness, irreducible bilateral hip and radial head dislocation, and carpal bone coalition due to COL27A1 mutations. Two consecutive pregnancies in a non-consanguineous couple were terminated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::976b061a9cac96405305c02b2bf1de52
https://doi.org/10.1007/s00428-020-02979-2
https://doi.org/10.1007/s00428-020-02979-2
Autor:
Elisenda Eixarch, Alfons Nadal, E. Marimon, Begoña Muñoz, Montse Pauta, Berta Campos, Eva López-Quesada, Lourdes Martin, Gemma Arca, Montserrat Comas Rovira, Monica Lopez, Silvia Pina Perez, Antoni Borrell, Fernanda Paz Y. Miño, Olga Leticia Fuchs Gómez, Maria Segura-Puimedon, Virginia Borobio, Albert Tubau, Esperanza Garcia, Joan Sabrià
Publikováno v:
Fetal Diagnosis and Therapy. 48:746-756
Objective: The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and “solo” clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c18c733cf52f904a842e0310092ef7b1
https://doi.org/10.1159/000519701
https://doi.org/10.1159/000519701
Autor:
Miriam Potrony, Antoni Borrell, Narcís Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Karmele Saez de Gordoa Elizalde, Juan Francisco Quesada-Espinosa, Jose Luis Villanueva-Cañas, Montse Pauta, Meritxell Jodar, Irene Madrigal, Celia Badenas, Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f865a3df7d7ed2daec1921cda7964c
http://hdl.handle.net/2445/191265
http://hdl.handle.net/2445/191265
Publikováno v:
Fetal Diagnosis and Therapy. 48:9-14
Objective: The aim of the study wasto describe the past medical history, sociodemographic, and pregnancy characteristics of women at high risk for aneuploidy and to determine which factors are related to her choice of cell-free DNA (cfDNA) testing in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::374ad1b7a677729c7e363ffac086edd0
https://doi.org/10.1159/000509796
https://doi.org/10.1159/000509796