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Alport autossômica: um estudo de duas famílias norte-rio-grandenses
(BrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM BIOINFORMÁTICA, 2019-12-19)
Alport syndrome (AS) is a genetically rare, heterogeneous and hereditary pathology
associated with germline mutations in collagen type IV genes (COL4A3, COL4A4 and
COL4A5). Characterized by progressive loss of renal ...
Evento adverso locorregional pós-vacina BCG como sinalizador de defeito genético-molecular associado a um erro inato da imunidade
(Universidade Federal de São Paulo (UNIFESP), 2021)
Objectives: To describe the frequency of genetic variants associated with monogenic diseases with inborn errors of immunity in children who have had localized adverse events after BCG vaccination. Patients and Methods: ...
Genetics of combined pituitary hormone deficiency: Roadmap into the genome era
(Endocrine Society, 2016-12)
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of this disorder is valuable for predicting ...