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Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis
(2019)
The overall objective of this guideline is to provide the user with information on the laboratory diagnosis of inherited epidermolysis bullosa (EB) to improve outcomes (Table 1). An accurate diagnosis and subclassification ...
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
(2020)
Background: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).
Objectives: We sought to ...
Postadmixture Selection On Chileans Targets Haplotype Involved In Pigmentation, Thermogenesis And Immune Defense Against Pathogens
(2020-06)
Detection of positive selection signatures in populations around the world is helping to uncover recent human evolutionary history as well as the genetic basis of diseases. Most human evolutionary genomic studies have been ...
Epidermolysis bullosa simplex-generalized severe due to p.Glu477Lys mutation in keratin 5: a genotype-phenotype correlation with in silico modeling analysis
(2019)
Background/Objectives: Epidermolysis bullosa is a group of diseases caused by mutations in skin structural proteins. Availability of genetic sequencing makes identification of causative mutations easier, and genotype‐phenotype ...
Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations
(2021)
Background: Epidermolysis bullosa (EB) corresponds to a series of conditions
characterized by extreme fragility of the skin and/or mucous membranes. Of the four
main types of EB, junctional EB (JEB) is the most associated ...
Clinical aspects of Leprosy
(Elsevier, 2020)
Comparative study of the neural differentiation capacity of mesenchymal stromal cells from different tissue sources: An approach for their use in neural regeneration therapies
(2019)
Mesenchymal stem cells (MSCs) can trans/differentiate to neural precursors and/or mature neurons and promote neuroprotection and neurogenesis. The above could greatly benefit neurodegenerative disorders as well as in the ...