Browsing by author "Valverde Pérez, Diana"

Now showing items 1-20 of 25

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

Perea Romero, Irene; López Solarat, Carlos; Blanco Kelly, Fiona; Sanchez Navarro, Iker; Bea Mascato, Brais; Martin Salazar, Jesús Eduardo; Lorda Sanchez, Isabel; Swafiri, Saoud Tahsin; Avila Fernández, Almudena; Martin Merida, Inmaculada; Trujillo Tiebas, Maria Jose; Carreño, Ester; Jiménez Rolando, Belen; García Sandoval, Blanca; Minguez, Pablo; Corton, Marta; Valverde Pérez, Diana; Ayuso, Carmen
article
Bioquímica, xenética e inmunoloxía
ALMS1 regulates TGF-β signaling and morphology of primary cilia

Álvarez Satta, María; Lago Docampo, Mauro; Bea Mascato, Brais; López Solarat, Carlos; Castro Sánchez, Sheila; Christensen, Søren T.; Valverde Pérez, Diana
article
Bioquímica, xenética e inmunoloxía
Alterations in respiratory function test three months after hospitalisation for COVID-19 pneumonia: value of determining nitric oxide diffusion

Núñez Fernández, Marta; Ramos Hernández, Cristina; García Río, Francisco; Torres Durán, María; Nodar Germiñas, Andrés; Tilve Gómez, Amara; Rodríguez Fernández, Paula; Valverde Pérez, Diana; Ruano Raviña, Alberto; Fernández Villar, Alberto
article
Bioquímica, xenética e inmunoloxía
An analysis of prognostic factors in a cohort of low-grade gliomas and degree of consistency between RTOG and EORTC scores

Fernández Pérez, Isaura; Valverde Pérez, Diana; Fiaño Valverde, Concepción; Brea Iglesias, Jenifer; Villanueva Silva, María José; Lázaro Quintela, Martín; Meléndez, Bárbara
article
Bioquímica, xenética e inmunoloxía
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

Lago Docampo, Mauro; Tenorio Castaño, Jair Antonio; Hernández González, Ignacio; Pérez Olivares, Carmen; Escribano Subías, Pilar; Pousada, Guillermo; Baloira, Adolfo; Arenas Busto, Miguel; Lapunzina, Pablo; Valverde Pérez, Diana
article
Bioquímica, xenética e inmunoloxía
Clinical heterogeneity of pulmonary arterial hypertension associated with variants in TBX4

Hernández González, Ignacio; Tenorio, Jair; Palomino Doza, Julián; Martínez Meñaca, Amaya; Morales Ruiz, Rafael; Lago Docampo, Mauro; Valverde Gómez, María; Gómez Román, Javier; Enguita Valls, Ana Belén; Pérez Olivares, Carmen; Valverde Pérez, Diana; Gil Carbonell, Joan; Garrido-Lestache Rodríguez-Monte, Elvira; del Cerro, María Jesús; Lapunzina, Pablo; Escribano Subias, Pilar
article
Bioquímica, xenética e inmunoloxía
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Sánchez Navarro, Iker; R. J. da Silva, Luciana; Blanco Kelly, Fiona; Zurita, Olga; Sánchez Bolivar, Noelia; Villaverde, Cristina; López Molina, María Isabel; García Sandoval, Blanca; Tahsin Swafiri, Saoud; Mínguez, Pablo; Riveiro Álvarez, Rosa; Lorda, Isabel; Sánchez Alcudia, Rocío; Pérez Carro, Raquel; Valverde Pérez, Diana; Liu, Yichuan; Tian, Lifeng; Hakonarson, Hakon; Ávila Fernández, Almudena; Corton, Marta; Ayuso, Carmen
article
Bioquímica, xenética e inmunoloxía
Comparison of bisulfite pyrosequencing and methylation-specific qPCR for methylation assessment

De Chiara Prada, Loretta; Leiro Fernandez, Virginia; Rodríguez Girondo, Mar; Valverde Pérez, Diana; Botana Rial, María Isabel; Fernández Villar, Alberto
article
Bioquímica, xenética e inmunoloxía
CPLANE complex and ciliopathies

Martín Salazar, Jesús Eduardo; Valverde Pérez, Diana
article
Bioquímica, xenética e inmunoloxía
Customized massive parallel sequencing panel for diagnosis of pulmonary arterial hypertension

Tenorio Castaño, Jair Antonio; Hernández González, Ignacio; Gallego, Natalia; Pérez Olivares, Carmen; Ochoa Parra, Nuria; Arias, Pedro; Granda, Elena; Gómez Acebo, Gonzalo; Lago Docampo, Mauro; Palomino Doza, Julián; López Meseguer, Manuel; del Cerro, María Jesús; Valverde Pérez, Diana; Lapunzina, Pablo; Escribano Subías, Pilar
article
Bioquímica, xenética e inmunoloxía
Deciphering the molecular basis of Alström syndrome: genotype-phenotype correlations and a multi-omics approach to TGF-B pathway regulation

Bea Mascato, Brais
doctoralThesis
Bioquímica, xenética e inmunoloxía
Programa de Doutoramento en Metodoloxía e Aplicacións en Ciencias da Vida (RD 99/2011)
Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity

Bea Mascato, Brais; Neira Goyanes, Elena; Iglesias Rodríguez, Antía; Valverde Pérez, Diana
article
Bioquímica, xenética e inmunoloxía
Functional analyses and novel markers for Pulmonary Arterial Hypertension

Lago Docampo, Mauro
doctoralThesis
Bioquímica, xenética e inmunoloxía
Programa de Doutoramento en Metodoloxía e Aplicacións en Ciencias da Vida (RD 99/2011)
Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

Castro Sánchez, Sheila; Suárez Bregua, Paula; Novas, Rossina; Álvarez Satta, María; Badano, José L.; Rotllant i Moragas, Josep; Valverde Pérez, Diana
article
Bioquímica, xenética e inmunoloxía
Implementation of new strategies for mutational and functional characterization of families with clinically suspected Bardet-Biedl syndrome

Castro Sánchez, Sheila
doctoralThesis
Bioquímica, xenética e inmunoloxía
Programa Oficial de Doutoramento en Metodoloxía e Aplicacións en Ciencias da Vida (RD 1393/2007)
Limited genomic reconstruction of SARS-CoV-2 transmission history within local epidemiological clusters

Gallego Garcia, Maria Del Pilar; Varela Rouco, Nair; Estevez Gomez, Nuria; De Chiara Prada, Loretta; Fernández Silva, Iria; Valverde Pérez, Diana; Sapoval, Nicolae; Treangen, Todd; Regueiro, Benito; Cabrera Alvargonzález, Jorge Julio; del Campo, Víctor; Pérez Castro, Sonia; Posada González, David
article
Bioquímica, xenética e inmunoloxía
Marcadores moleculares en la identificación de genotipos asociados a la progresión de la infección por el virus de inmunodeficiencia humana tipo i (VIH-1) y su utilidad en la práctica clínica

Rodríguez da Silva, Alfredo
doctoralThesis
Bioquímica, xenética e inmunoloxía
Ciencias da saúde
Methylation assessment for the prediction of malignancy in mediastinal adenopathies obtained by endobronchial ultrasound-guided transbronchial needle aspiration in patients with lung cancer

Leiro Fernández, Virginia; De Chiara Prada, Loretta; Rodríguez Girondo, Mar; Botana Rial, María Isabel; Valverde Pérez, Diana; Núñez Delgado, Manuel; Fernández Villar, Alberto
article
Bioquímica, xenética e inmunoloxía
Molecular mechanisms and phenotypic diversity in Bardet-Biedl syndrome

López Solarat, Carlos
doctoralThesis
Bioquímica, xenética e inmunoloxía
Programa de Doutoramento en Metodoloxía e Aplicacións en Ciencias da Vida (RD 99/2011)
Novel genetic and molecular pathways in pulmonary arterial hypertension associated with connective tissue disease

Hernández González, Ignacio; Tenorio Castano, Jair; Ochoa Parra, Nuria; Gallego, Natalia; Pérez Olivares, Carmen; Lago Docampo, Mauro; Palomino Doza, Julian; Valverde Pérez, Diana; Lapunzina, Pablo; Escribano Subias, Pilar
article
Bioquímica, xenética e inmunoloxía

Browsing by author "Valverde Pérez, Diana"

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome ﻿

ALMS1 regulates TGF-β signaling and morphology of primary cilia ﻿

Alterations in respiratory function test three months after hospitalisation for COVID-19 pneumonia: value of determining nitric oxide diffusion ﻿

An analysis of prognostic factors in a cohort of low-grade gliomas and degree of consistency between RTOG and EORTC scores ﻿

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients ﻿

Clinical heterogeneity of pulmonary arterial hypertension associated with variants in TBX4 ﻿

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies ﻿

Comparison of bisulfite pyrosequencing and methylation-specific qPCR for methylation assessment ﻿

CPLANE complex and ciliopathies ﻿

Customized massive parallel sequencing panel for diagnosis of pulmonary arterial hypertension ﻿

Deciphering the molecular basis of Alström syndrome: genotype-phenotype correlations and a multi-omics approach to TGF-B pathway regulation ﻿

Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity ﻿

Functional analyses and novel markers for Pulmonary Arterial Hypertension ﻿

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model ﻿

Implementation of new strategies for mutational and functional characterization of families with clinically suspected Bardet-Biedl syndrome ﻿

Limited genomic reconstruction of SARS-CoV-2 transmission history within local epidemiological clusters ﻿

Marcadores moleculares en la identificación de genotipos asociados a la progresión de la infección por el virus de inmunodeficiencia humana tipo i (VIH-1) y su utilidad en la práctica clínica ﻿

Methylation assessment for the prediction of malignancy in mediastinal adenopathies obtained by endobronchial ultrasound-guided transbronchial needle aspiration in patients with lung cancer ﻿

Molecular mechanisms and phenotypic diversity in Bardet-Biedl syndrome ﻿

Novel genetic and molecular pathways in pulmonary arterial hypertension associated with connective tissue disease ﻿

El Repositorio Institucional de la Universidade de Vigo Investigo se difunde en:

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

ALMS1 regulates TGF-β signaling and morphology of primary cilia

Alterations in respiratory function test three months after hospitalisation for COVID-19 pneumonia: value of determining nitric oxide diffusion

An analysis of prognostic factors in a cohort of low-grade gliomas and degree of consistency between RTOG and EORTC scores

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

Clinical heterogeneity of pulmonary arterial hypertension associated with variants in TBX4

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Comparison of bisulfite pyrosequencing and methylation-specific qPCR for methylation assessment

CPLANE complex and ciliopathies

Customized massive parallel sequencing panel for diagnosis of pulmonary arterial hypertension

Deciphering the molecular basis of Alström syndrome: genotype-phenotype correlations and a multi-omics approach to TGF-B pathway regulation

Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity

Functional analyses and novel markers for Pulmonary Arterial Hypertension

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

Implementation of new strategies for mutational and functional characterization of families with clinically suspected Bardet-Biedl syndrome

Limited genomic reconstruction of SARS-CoV-2 transmission history within local epidemiological clusters

Marcadores moleculares en la identificación de genotipos asociados a la progresión de la infección por el virus de inmunodeficiencia humana tipo i (VIH-1) y su utilidad en la práctica clínica

Methylation assessment for the prediction of malignancy in mediastinal adenopathies obtained by endobronchial ultrasound-guided transbronchial needle aspiration in patients with lung cancer

Molecular mechanisms and phenotypic diversity in Bardet-Biedl syndrome

Novel genetic and molecular pathways in pulmonary arterial hypertension associated with connective tissue disease