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Aarskog-Scott syndrome: phenotypic and genetic heterogeneity
(AIMS GENETICS, 2016-03-29)
Aarskog-Scott syndrome (AAS) is a rare developmental disorder which primarily affects
males and has a relative prevalence of 1 in 25,000 in the general population. AAS patients usually
present with developmental complications ...
Clinical interpretation and management of genetic variants
Genetic variants are major determinants of susceptibility to disease, response to therapy, and clinical outcomes. Advances
in the short-read sequencing technologies, despite some shortcomings, have enabled identification ...
Angiotensinogen and angiotensin converting enzyme gene polymorphisms and the risk of bipolar affective disorder in humans
(Elsevier B.V., 2000-10-27)
A possible participation of the renin-angiotensin system (RAS) components with mood disturbances has been suggested in both animal and pharmacological models. in this cross-sectional study, we examined the association ...
Complex segregation analysis of facial melasma in Brazil: evidence for a genetic susceptibility with a dominant pattern of segregation
(2018-01-01)
Despite high prevalence, the etiopathology of melasma is not fully understood. Nevertheless, many factors have been associated with the disease, including: sun exposure, sex steroids hormones, drugs, stress, and pregnancy. ...
Genetic modifiers associated with the variability of the aortic phenotype in patients with inheritable connective tissue disorders(ICTDs)
(Universidad del Desarrollo. Facultad de Medicina, 2022-05-27)
Inheritable Connective Tissue Disorders (ICTDs) are rare genetic diseases that involve variants in genes that encode for proteins of the extracellular matrix (ECM). ICTDs affect patients from birth and their symptoms are ...
Disorders of sex development and hypogonadism: Genetics, mechanism, and therapies
(Hindawi Publishing Corporation, 2012-07)
Disorders of sex development (DSD) and hypogonadism are genetically heterogeneous and include a broad spectrum of phenotypes. Recent advances in biology and medicine have introduced impressive improvements in both clinical ...
Subtelomeric region of chromosome 2 in patients with autism spectrum disorders
(2008-07-30)
Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is ...