List of works - Diana Valverde

Absence of activating mutations in the EGFR kinase domain in Spanish head and neck cancer patients

scientific article published on 26 October 2007

Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España

article

Alström syndrome: current perspectives

scientific article (publication date: 2015)

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

scientific article published on 15 December 2010

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

scientific article published on 15 September 2020

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

scientific article published in September 2005

Clinical and molecular study of 4 cases of pulmonary hypertension associated with sarcoidosis

scientific article published on 18 June 2014

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

scientific article

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

scientific article

Estudio de la repetición del pentanucleótido CCTTT en el gen de la sintasa inducible del óxido nítrico en pacientes con hipertensión arterial pulmonar

scientific article published on 15 January 2014

Estudio del polimorfismo K198N en el gen EDN1 en pacientes afectados con hipertensión arterial pulmonar

scientific article published on 14 February 2014

Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.

scientific article published on March 2001

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

article

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

scientific article published on 16 June 2015

Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.

scientific article published on 13 May 2017

Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves' disease patients.

scientific article published on 20 December 2017

Genetic variations of NAT2 and CYP2E1 and isoniazid hepatotoxicity in a diverse population

scientific article published on September 2010

Hemochromatosis in Galicia (NW Spain): a Celtic influence?

article

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

scientific article published in November 2006

Influence of glutathione S-transferase M1 and T1 homozygous null mutations on the risk of antituberculosis drug-induced hepatotoxicity in a Caucasian population.

scientific article

Methylation Analysis of the BMPR2 Gene Promoter Region in Patients With Pulmonary Arterial Hypertension

scientific article published on 3 December 2015

Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension

scientific article

Mutations including the promoter region of myocilin/TIGR gene

article

N-acetyltransferase 2 polymorphisms and risk of anti-tuberculosis drug-induced hepatotoxicity in Caucasians

scientific article published in October 2011

Novel human pathological mutations

scientific article published on 01 July 2006

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension

scientific article

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations inBBS1,BBS10andBBS12genes

article

Polymorphisms in the serotonin transporter protein (SERT) gene in patients with pulmonary arterial hypertension ⬇️

scientific article published on December 16, 2011

Predictive value of spindle retardance in embryo implantation rate

scientific article

Prevalence study of the genetic markers associated with slow progression of human inmunodefiency virus type 1 in the Galician population (Northwest of Spain)

scientific article published on 19 June 2015

Prognostic value of aberrant hypermethylation in pleural effusion of lung adenocarcinoma ⬇️

scientific article published on September 6, 2012

Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia

scientific article published on 24 December 2014

Pulmonary arterial hypertension associated with human immunodeficiency virus infection: study of 4 cases

scientific article

Putative association of a mutant ROM1 allele with retinitis pigmentosa

scientific article published on 01 June 1997

True hermaphroditism and normal male external genitalia: a rare presentation

scientific article published on 01 August 1999

Viability of lymph node samples obtained by echobronchoscopy in the study of epigenetic alterations in patients with lung cancer

scientific article published on 02 January 2014

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

scientific article published on 11 August 2017

List of works by Diana Valverde

Absence of activating mutations in the EGFR kinase domain in Spanish head and neck cancer patients

Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España

Alström syndrome: current perspectives

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

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

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

Clinical and molecular study of 4 cases of pulmonary hypertension associated with sarcoidosis

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

Estudio de la repetición del pentanucleótido CCTTT en el gen de la sintasa inducible del óxido nítrico en pacientes con hipertensión arterial pulmonar

Estudio del polimorfismo K198N en el gen EDN1 en pacientes afectados con hipertensión arterial pulmonar

Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.

Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves' disease patients.

Genetic variations of NAT2 and CYP2E1 and isoniazid hepatotoxicity in a diverse population

Hemochromatosis in Galicia (NW Spain): a Celtic influence?

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Influence of glutathione S-transferase M1 and T1 homozygous null mutations on the risk of antituberculosis drug-induced hepatotoxicity in a Caucasian population.

Methylation Analysis of the BMPR2 Gene Promoter Region in Patients With Pulmonary Arterial Hypertension

Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension

Mutations including the promoter region of myocilin/TIGR gene

N-acetyltransferase 2 polymorphisms and risk of anti-tuberculosis drug-induced hepatotoxicity in Caucasians

Novel human pathological mutations

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations inBBS1,BBS10andBBS12genes

Polymorphisms in the serotonin transporter protein (SERT) gene in patients with pulmonary arterial hypertension ⬇️

Predictive value of spindle retardance in embryo implantation rate

Prevalence study of the genetic markers associated with slow progression of human inmunodefiency virus type 1 in the Galician population (Northwest of Spain)

Prognostic value of aberrant hypermethylation in pleural effusion of lung adenocarcinoma ⬇️

Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia

Pulmonary arterial hypertension associated with human immunodeficiency virus infection: study of 4 cases

Putative association of a mutant ROM1 allele with retinitis pigmentosa

True hermaphroditism and normal male external genitalia: a rare presentation

Viability of lymph node samples obtained by echobronchoscopy in the study of epigenetic alterations in patients with lung cancer

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes