3 documents found, page 1 of 1
Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable an...
Mariath,Luiza Monteavaro; Kiszewski,Ana Elisa; Frantz,Jeanine Aparecida; Siebert,Marina; Matte,Ursula; Schuler-Faccini,LavíniaAbstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, access to diagnostic methods is limited, and c...
Inherited epidermolysis bullosa: update on the clinical and genetic aspects,
Mariath,Luiza Monteavaro; Santin,Juliana Tosetto; Schuler-Faccini,Lavínia; Kiszewski,Ana ElisaAbstract Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epi...
Music genetics research: Association with musicality of a polymorphism in the A...
Mariath,Luiza Monteavaro; Silva,Alexandre Mauat da; Kowalski,Thayne Woycinck; Gattino,Gustavo Schulz; Araujo,Gustavo Andrade de; Figueiredo,Felipe GrahlAbstract Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully u...