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Síndrome de Werner associada a quadro esclerodermiforme: relato de caso e revisão da literatura
(Sociedade Brasileira de Reumatologia, 2008-04-01)
Werner's syndrome is a rare autosomal recessive disease associated with premature ageing. Skin alteration must be distinguished from cutaneous manifestation of systemic sclerosis (SSc). We describe a case of a 39 years old ...
CYTOGENETIC ASPECTS of WERNERS-SYNDROME LYMPHOCYTE-CULTURES
(Elsevier B.V., 1995-03-01)
Lymphocyte cultures from five patients with Werner's syndrome (WS) and five healthy controls revealed significantly slower proliferation kinetics in four out of five patients. Higher frequencies of chromosome aberration ...
HLA COMPLEX IN WERNER'S DISEASE
(Clinical Immunology National Center and National Center for Rheumatic Diseases, SAS-UCV., 2016)
Troubling disease syndrome in endangered live Patagonian huemul deer (Hippocamelus bisulcus) from the Protected Park Shoonem: Unusually high prevalence of osteopathology
(BioMed Central Ltd., 2017-12)
Objective: The last 1500 endangered Patagonian huemul deer (Hippocamelus bisulcus) exist in > 100 groups which are not recovering. Prevalence of osteopathology in dead huemul was 57+% (Argentina), whereas similar cases in ...
Multiple endocrine neoplasia type 2
(2010)
Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant cancer syndrome with major components of medullary thyroid carcinoma (MTC), pheochromocytoma and hyperparathyroidism. The disease is caused by germline ...
Síndrome do gucagonoma em cão
(Sociedade Brasileira de Dermatologia, 2014)
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior
(2019)
Neurodevelopmental disorders offer insight into synaptic mechanisms. To unbiasedly uncover these mechanisms, we studied the 22q11.2 syndrome, a recurrent copy number variant, which is the highest schizophrenia genetic risk ...