Lista de obras - Luisa Mota-Vieira - Dominio Público Uruguay

15 STR loci frequencies in the population from Paraná, Southern Brazil

artículo científico publicado en 2009

A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

artículo científico publicado en 2018

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract

artículo científico publicado en 2013

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

artículo científico publicado en 2018

A rare case of a primary retroperitoneal mucinous cystic tumour with borderline malignancy and literature review

scientific article published on 04 September 2019

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

artículo científico publicado en 2015

Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.

artículo científico publicado en 1998

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

artículo científico publicado en 2007

Assessment of Azorean ancestry by Alu insertion polymorphisms

artículo científico publicado en 2006

Azores Islands: genetic origin, gene flow and diversity pattern.

artículo científico publicado en 2008

Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal)

artículo científico publicado en 2015

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

artículo científico publicado en 2017

Cross-protection to new drifted influenza A(H3) viruses and prevalence of protective antibodies to seasonal influenza, during 2014 in Portugal

artículo científico publicado en 2017

Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease.

artículo científico publicado en 2018

Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal).

artículo científico publicado en 2001

Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.

artículo científico publicado en 2006

Epidemiology and genetic variability of respiratory syncytial virus in Portugal, 2014-2018

scientific article published on 10 October 2019

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.

artículo científico publicado en 2007

Evaluation of linkage disequilibrium on the Xq13.3 region: comparison between the Azores islands and mainland Portugal.

artículo científico publicado en 2008

Evaluation of reference-based two-color methods for measurement of gene expression ratios using spotted cDNA microarrays.

artículo científico publicado en 2006

Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease.

artículo científico publicado en 2005

First isolation of human Leptospira strains, Azores, Portugal

artículo científico publicado en 2010

Genealogical and molecular analysis of a family-based cohort of congenital heart disease patients from the São Miguel Island (Azores, Portugal).

artículo científico publicado en 2015

Genetic risk assessment for cardiovascular disease in Azoreans (Portugal): a general population-based study

artículo científico publicado en 2013

Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci

artículo científico publicado en 2008

Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis

artículo científico publicado en 2016

Genetic variation in key genes associated with statin therapy in the Azores Islands (Portugal) healthy population.

artículo científico publicado en 2014

HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium

artículo científico publicado en 2010

Heterogeneity of the rat NADH-cytochrome-b5-reductase transcripts resulting from multiple alternative first exons.

artículo científico publicado en 1994

Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal)

artículo científico publicado en 2014

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

artículo científico publicado en 2010

Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants

artículo científico publicado en 2009

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients

artículo científico publicado en 2007

Mitochondrial DNA analysis of Tunisians reveals a mosaic genetic structure with recent population expansion.

artículo científico

Molecular diagnosis of infectious diseases in São Miguel Island (Azores, Portugal): A hospital-based descriptive study

artículo científico publicado en 2016

Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.

artículo científico publicado en 2014

Oxidative stress and mitochondrial dysfunction play a role in myelodysplastic syndrome development, diagnosis, and prognosis: A pilot study.

artículo científico publicado en 2015

Oxidative stress levels are correlated with P15 and P16 gene promoter methylation in myelodysplastic syndrome patients

artículo científico publicado en 2015

Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.

artículo científico publicado en 2015

Physical mapping of 49 microsatellite markers on chromosome 19 and correlation with the genetic linkage map.

artículo científico publicado en 1996

Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p-) syndrome: A case report

scientific article published on 04 December 2018

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

artículo científico publicado en 2014

Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes.

artículo científico publicado en 2013

Transcriptional and translational mechanisms of cytochrome b5 reductase isoenzyme generation in humans.

artículo científico publicado en 2001

UGT1A1, UGT1A6 and UGT1A7 genetic analysis: repercussion for irinotecan pharmacogenetics in the São Miguel Island Population (Azores, Portugal).

artículo científico publicado en 2009

Yoga in primary health care: A quasi-experimental study to access the effects on quality of life and psychological distress

scientific article published on 25 October 2018

Lista de obras de Luisa Mota-Vieira

15 STR loci frequencies in the population from Paraná, Southern Brazil

A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

A rare case of a primary retroperitoneal mucinous cystic tumour with borderline malignancy and literature review

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Assessment of Azorean ancestry by Alu insertion polymorphisms

Azores Islands: genetic origin, gene flow and diversity pattern.

Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal)

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

Cross-protection to new drifted influenza A(H3) viruses and prevalence of protective antibodies to seasonal influenza, during 2014 in Portugal

Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease.

Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal).

Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.

Epidemiology and genetic variability of respiratory syncytial virus in Portugal, 2014-2018

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.

Evaluation of linkage disequilibrium on the Xq13.3 region: comparison between the Azores islands and mainland Portugal.

Evaluation of reference-based two-color methods for measurement of gene expression ratios using spotted cDNA microarrays.

Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease.

First isolation of human Leptospira strains, Azores, Portugal

Genealogical and molecular analysis of a family-based cohort of congenital heart disease patients from the São Miguel Island (Azores, Portugal).

Genetic risk assessment for cardiovascular disease in Azoreans (Portugal): a general population-based study

Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci

Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis

Genetic variation in key genes associated with statin therapy in the Azores Islands (Portugal) healthy population.

HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium

Heterogeneity of the rat NADH-cytochrome-b5-reductase transcripts resulting from multiple alternative first exons.

Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal)

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients

Mitochondrial DNA analysis of Tunisians reveals a mosaic genetic structure with recent population expansion.

Molecular diagnosis of infectious diseases in São Miguel Island (Azores, Portugal): A hospital-based descriptive study

Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.

Oxidative stress and mitochondrial dysfunction play a role in myelodysplastic syndrome development, diagnosis, and prognosis: A pilot study.

Oxidative stress levels are correlated with P15 and P16 gene promoter methylation in myelodysplastic syndrome patients

Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.

Physical mapping of 49 microsatellite markers on chromosome 19 and correlation with the genetic linkage map.

Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p-) syndrome: A case report

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes.

Transcriptional and translational mechanisms of cytochrome b5 reductase isoenzyme generation in humans.

UGT1A1, UGT1A6 and UGT1A7 genetic analysis: repercussion for irinotecan pharmacogenetics in the São Miguel Island Population (Azores, Portugal).

Yoga in primary health care: A quasi-experimental study to access the effects on quality of life and psychological distress