Lista de obras - Diana Valverde - Dominio Público Uruguay

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

artículo científico publicado en 2007

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

article

Alström syndrome: current perspectives

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2000

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Mutations including the promoter region of myocilin/TIGR gene

article

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

artículo científico publicado en 2011

Novel human pathological mutations

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

article

Predictive value of spindle retardance in embryo implantation rate

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Putative association of a mutant ROM1 allele with retinitis pigmentosa

artículo científico publicado en 1997

True hermaphroditism and normal male external genitalia: a rare presentation

artículo científico publicado en 1999

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

artículo científico publicado en 2014

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

artículo científico

Polimorfismos en el gen de la proteína transportadora de serotonina (SERT) en pacientes con hipertensión arterial pulmonar ⬇️

artículo científico publicado el 16 de diciembre de 2011

Lista de obras de 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

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)

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

Polimorfismos en el gen de la proteína transportadora de serotonina (SERT) en pacientes con hipertensión arterial pulmonar ⬇️