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	Provedor de dados Genet. Mol. Biol. (3) Autor Seuánez,Héctor N. (3) Almeida,Francisca C. (1) Almeida,José Carlos Cabral de (1) Cardoso,Leila C.A. (1) Castaño,Jair A. Tenorio (1) Cerqueira,Rui (1) Faria,Paulo S. de (1) Ferman,Sima (1) Lapunzina,Pablo (1) Lima,Maria Angélica de F.D. (1) Maroja,Luana S. (1) Moreira,Aline Santos (1) Moreira,Miguel A.M. (1) Nevado,Julián B. (1) Pereira,Hanna S. (1) Pimentel,Beatriz Jatobá (1) Santos,Anna Cláudia E. dos (1) Stefanoff,Cláudio Gustavo (1) Vargas,Fernando R. (1) Zalcberg,Ilana Renault (1) Mais... Palavra-chave Chronic lymphocytic leukaemia (1) Divergence time (1) Epigenetic (1) Histopathology (1) Immunoglobulin rearrangements (1) Islands (1) MS-MLPA (1) Methylation (1) Microsatellites (1) Population expansion (1) Population genetics (1) Population size (1) Pyrosequencing (1) Somatic hypermutation (1) Mais... Tipo do documento Info:eu-repo/semantics/article (3) Ano 2012 (1) 2008 (1) 2005 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients Genet. Mol. Biol. Cardoso,Leila C.A.; Castaño,Jair A. Tenorio; Pereira,Hanna S.; Lima,Maria Angélica de F.D.; Santos,Anna Cláudia E. dos; Faria,Paulo S. de; Ferman,Sima; Seuánez,Héctor N.; Nevado,Julián B.; Almeida,José Carlos Cabral de; Lapunzina,Pablo; Vargas,Fernando R.. The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric domain 2 (KvDMR) that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and MS-MLPA to compare the methylation patterns of DMRH19/KvDMR in blood and tumor samples from 40 WT patients. Normal constitutional KvDMR methylation indicated that most of the epigenetic alterations in WT occur at DMRH19. Constitutional DMRH19 hypermethylation (HM DMRH19) was observed in two patients with Beckwith-Wiedemann syndrome. Pyrosequencing and MS-MLPA showed HM DMRH19 in 28/34 tumor samples:... Tipo: Info:eu-repo/semantics/article Palavras-chave: Epigenetic; Histopathology; Methylation; MS-MLPA; Pyrosequencing. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500002 Population structure and genetic variability of mainland and insular populations of the Neotropical water rat, Nectomys squamipes (Rodentia, Sigmodontinae) Genet. Mol. Biol. Almeida,Francisca C.; Maroja,Luana S.; Moreira,Miguel A.M.; Seuánez,Héctor N.; Cerqueira,Rui. Seven microsatellite loci were used to investigate the genetic variability and structure of six mainland and two island populations of the Neotropical water rat Nectomys squamipes, a South American semi-aquatic rodent species with a wide distribution. High levels of variability were found within mainland populations while island populations were less variable but the more differentiated in respect to allele number and frequency. The time of biological divergence between mainland and island populations coincided with geological data. A significant geographic structure was found in mainland populations (theta = 0.099; rho = 0.086) although the degree of differentiation was relatively low in respect to the distance between surveyed localities (24 to 740 km).... Tipo: Info:eu-repo/semantics/article Palavras-chave: Microsatellites; Population genetics; Islands; Population expansion; Population size; Divergence time. Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000500008 Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL) Genet. Mol. Biol. Pimentel,Beatriz Jatobá; Stefanoff,Cláudio Gustavo; Moreira,Aline Santos; Seuánez,Héctor N.; Zalcberg,Ilana Renault. Chronic lymphocytic leukaemia (CLL) is a haematological malignancy for which reliable prognostic markers are needed in view of its clinical heterogeneity. In approximately 50% of CLL patients, immunoglobulin (Ig) rearrangements are modified by somatic hypermutation (SHM), a process that represents a reliable prognostic indicator of favourable progression. In this study, we investigated SHM in 37 Brazilian CLL patients and identified the preferential involvement of specific immunoglobulin gene families and segments through PCR-amplified fragments or subcloned fragments. Forty-one rearrangements were observed and 37 of them were functional. A 98% homology cut-off with germinal sequences showed 18 patients (48.7%) with SHM. Unmutated cases showed a poorer... Tipo: Info:eu-repo/semantics/article Palavras-chave: Chronic lymphocytic leukaemia; Immunoglobulin rearrangements; Somatic hypermutation. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400007 Registros recuperados: 3 Primeira ... 1 ... Última

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