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	Provedor de dados BJMBR (3) Genet. Mol. Biol. (1) Autor Passos-Bueno,M.R. (4) Errera,F.I.V. (2) Silva,M.E.R. (2) Yeh,E. (2) Angeli,C.B. (1) Canani,L.H.S. (1) Cerqueira,A. (1) Conti,U. (1) Côrte,C.C. (1) Fanganiello,R.D. (1) Folco,B. (1) Gonzalez,C.H. (1) Kim,C.A. (1) Kimonis,V.E. (1) Kimura,L. (1) Krieger,J.E. (1) Maranduba,C.M.C. (1) Marie,S.K. (1) Marques-Dias,M.J. (1) Mingroni-Netto,R.C. (1) Mais... Palavra-chave APOE (1) Adiponectin receptors (1) Association of ADIPOR1 with DM2 (1) Association study (1) Diabetes (1) Diabetic retinopathy (1) Frontotemporal dementia (1) HDL cholesterol (1) MTHFR (1) Myopathy (1) Paget disease of bone (1) Polymorphism for ancestry-admixture mapping (1) Polymorphisms (1) Type 2 diabetes (1) VCP gene mutations (1) Mais... Tipo do documento Info:eu-repo/semantics/article (3) Info:eu-repo/semantics/other (1) Ano 2011 (1) 2008 (1) 2006 (1) 1999 (1) País Brazil (4) Idioma Inglês (4)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 4 Primeira ... 1 ... Última A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia BJMBR Fanganiello,R.D.; Kimonis,V.E.; Côrte,C.C.; Nitrini,R.; Passos-Bueno,M.R.. Inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD) is a progressive and usually misdiagnosed autosomal dominant disorder. It is clinically characterized by a triad of features: proximal and distal myopathy, early onset Paget disease of bone (PDB), and frontotemporal dementia (FTD). It is caused by missense mutations in the valosin-containing protein (VCP) gene. We describe here the clinical and molecular findings of the first Brazilian family identified with IBMPFD. Progressive myopathy affecting the limb girdles was detected by clinical examination followed by muscle biopsy and creatine kinase measurement. PDB was suggested after anatomopathological bone examination and FTD was diagnosed by clinical,... Tipo: Info:eu-repo/semantics/article Palavras-chave: Frontotemporal dementia; VCP gene mutations; Myopathy; Paget disease of bone. Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400016 Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry BJMBR Yeh,E.; Kimura,L.; Errera,F.I.V.; Angeli,C.B.; Mingroni-Netto,R.C.; Silva,M.E.R.; Canani,L.H.S.; Passos-Bueno,M.R.. Association studies between ADIPOR1 genetic variants and predisposition to type 2 diabetes (DM2) have provided contradictory results. We determined if two single nucleotide polymorphisms (SNP c.-8503G>A and SNP c.10225C>G) in regulatory regions of ADIPOR1 in 567 Brazilian individuals of European (EA; N = 443) or African (AfA; N = 124) ancestry from rural (quilombo remnants; N = 439) and urban (N = 567) areas. We detected a significant effect of ethnicity on the distribution of the allelic frequencies of both SNPs in these populations (EA: -8503A = 0.27; AfA: -8503A = 0.16; P = 0.001 and EA: 10225G = 0.35; AfA: 10225G = 0.51; P < 0.001). Neither of the polymorphisms were associated with DM2 in the case-control study in EA (SNP c.-8503G>A: DM2... Tipo: Info:eu-repo/semantics/other Palavras-chave: Association study; Adiponectin receptors; Type 2 diabetes; Polymorphism for ancestry-admixture mapping; HDL cholesterol; Association of ADIPOR1 with DM2. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000600005 Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients Genet. Mol. Biol. Kim,C.A.; Passos-Bueno,M.R.; Marie,S.K.; Cerqueira,A.; Conti,U.; Marques-Dias,M.J.; Gonzalez,C.H.; Zatz,M.. Spinal muscular atrophy (SMA), the second most common lethal autosomal recessive disorder, has an incidence of 1:10,000 newborns. SMA is divided into acute (Werdnig-Hoffmann disease, type I), intermediate (type II) and juvenile forms (Kugelberg-Welander disease, type III). The gene of all three forms of SMA maps to chromosome 5q 11.2-13.3. Two candidate genes, the survival motor neuron (SMN) gene and the neuronal apoptosis inhibitory protein (NAIP) gene, have been identified; SMN is deleted in most SMA patients. We studied both genes in 87 Brazilian SMA patients (20 type I, 14 type II and 53 type III) from 74 unrelated families, by using PCR and single strand conformation polymorphism (SSCP). Deletions of exons 7 and/or 8 of the SMN gene were found in 69%... Tipo: Info:eu-repo/semantics/article Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000400005 Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients BJMBR Errera,F.I.V.; Silva,M.E.R.; Yeh,E.; Maranduba,C.M.C.; Folco,B.; Takahashi,W.; Pereira,A.C.; Krieger,J.E.; Passos-Bueno,M.R.. Diabetes mellitus (DM) is a highly prevalent complex genetic disorder. There has been a worldwide effort in the identification of susceptibility genes for DM and its complications, and the 5-10-methylenetetrahydrofolate reductase (MTHFR) and apolipoprotein-E (APOE) genes have been considered good candidate susceptibility genes to this condition. The objectives of the present study were to determine if the 677T MTHFR and epsilon2/epsilon3/epsilon4 APOE alleles are risk factors for DM and for severity of diabetic retinopathy (DR). A total of 248 individuals were studied: 107 healthy individuals and 141 diabetic patients (46 with type 1 diabetes and 95 with type 2 diabetes), who also had DR (81 with non-proliferative DR and 60 with proliferative DR). The... Tipo: Info:eu-repo/semantics/article Palavras-chave: APOE; MTHFR; Polymorphisms; Diabetes; Diabetic retinopathy. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000700005 Registros recuperados: 4 Primeira ... 1 ... Última

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