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List of works by Luisa Mota-Vieira

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

scientific article published in December 2009

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

scientific article published on 20 March 2018

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

scientific article published in September 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

scientific article published on 20 January 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.

scientific article published on 22 August 2015

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

scientific article

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

scientific article

Assessment of Azorean ancestry by Alu insertion polymorphisms

scientific article published in 2006

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

scientific article published on January 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)

scientific article

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

scientific article published on 5 April 2017

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

scientific article

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

scientific article published on 15 June 2018

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

scientific article published in January 2001

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

scientific article published in January 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.

scientific article published in October 2007

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

scientific article published in May 2008

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

scientific article

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

scientific article published in January 2005

First isolation of human Leptospira strains, Azores, Portugal

scientific article published on 21 April 2010

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

scientific article

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

scientific article published on 13 September 2013

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

scientific article published on 01 January 2008

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

scientific article published on 7 March 2016

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

scientific article published on 16 September 2014

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

scientific article

HLA class II susceptibility to cervical cancer among Tunisian women ⬇️

scientific article published on September 1, 2012

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

scientific article published in March 1994

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

scientific article

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

scientific article published on 22 July 2010

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

scientific article

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

scientific article published in June 2007

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

scientific article published on 19 May 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 17 May 2015

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

scientific article published on 26 October 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in April 2001

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

scientific article published in January 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

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