All Stories

  1. A rare case of a primary retroperitoneal mucinous cystic tumour with borderline malignancy and literature review
  2. Yoga in primary health care: A quasi-experimental study to access the effects on quality of life and psychological distress
  3. Prenatal sonographic diagnosis of isolated fetal ascites in cri‐du‐chat (5p‐) syndrome: A case report
  4. Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease
  5. Diagnosis of Human Leptospirosis: High Resolution Melting Analysis for Direct Detection of Leptospira in the Early Stage of the Disease in a Clinical Setting
  6. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
  7. A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?
  8. Mitochondrial DNA analysis of Tunisians reveals a mosaic genetic structure with recent population expansion
  9. Clinical and Genetic Spectrum of Bartter Syndrome Type 3
  10. Cross-protection to new drifted influenza A(H3) viruses and prevalence of protective antibodies to seasonal influenza, during 2014 in Portugal
  11. Molecular diagnosis of infectious diseases in São Miguel Island (Azores, Portugal): A hospital-based descriptive study
  12. Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis
  13. Genealogical and molecular analysis of a family-based cohort of congenital heart disease patients from the São Miguel Island (Azores, Portugal)
  14. 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)
  15. 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
  16. Oxidative stress and mitochondrial dysfunction play a role in myelodysplastic syndrome development, diagnosis, and prognosis: A pilot study
  17. Oxidative stress levels are correlated with P15 and P16 gene promoter methylation in myelodysplastic syndrome patients
  18. Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age
  19. 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
  20. Human Leptospirosis: Seroreactivity and Genetic Susceptibility in the Population of São Miguel Island (Azores, Portugal)
  21. Genetic variation in key genes associated with statin therapy in the Azores Islands (Portugal) healthy population
  22. Case Report Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation
  23. Genetic risk assessment for cardiovascular disease in Azoreans (Portugal): A general population-based study
  24. A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract
  25. Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes
  26. HLA class II susceptibility to cervical cancer among Tunisian women
  27. First isolation of human Leptospira strains, Azores, Portugal
  28. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
  29. HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium
  30. 15 STR loci frequencies in the population from Paraná, Southern Brazil
  31. Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFβ gene variants
  32. Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores)
  33. Analysis of the linkage disequilibrium extension in the Azores Islands (Portugal)
  34. Study of the genetic relationship and diversity patterns in the Azores based on 15 STR markers
  35. The Portuguese genetic background in analysis: São Miguel Island (Azores) versus mainland Portugal
  36. Azores Islands: Genetic origin, gene flow and diversity pattern
  37. Evaluation of linkage disequilibrium on the Xq13.3 region: Comparison between the Azores islands and mainland Portugal
  38. Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions
  39. Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy
  40. Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci
  41. MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients
  42. Epidemiological Characterization of Congenital Heart Disease in São Miguel Island, Azores, Portugal
  43. Autosomal microsatellite analysis of the Azorean population
  44. Human DNA bank in Sao Miguel Island (Azores): A resource for genetic diversity studies
  45. The Y-chromosome in the Azores Islands: Phylogeny and diversity
  46. Assessment of Azorean ancestry by Alu insertion polymorphisms
  47. The Y-chromosomal Heritage of the Azores Islands Population
  48. Failure to Find α-Synuclein Gene Dosage Changes in 190 Patients With Familial Parkinson Disease
  49. Geography of surnames in the Azores: Specificity and spatial distribution analysis
  50. Transcriptional and translational mechanisms of cytochrome b5 reductase isoenzyme generation in humans
  51. Disease Knowledge and Attitudes toward Predictive Testing and Prenatal Diagnosis in Families with Machado-Joseph Disease from the Azores Islands (Portugal)
  52. Absence of Mutation in the  - and  -Synuclein Genes in Familial Autosomal Dominant Parkinson's Disease
  53. Physical Mapping of 49 Microsatellite Markers on Chromosome 19 and Correlation with the Genetic Linkage Map
  54. Heterogeneity of the rat NADH-cytochrome-b5-reductase transcripts resulting from multiple alternative first exons