Consulta: creatorFacets:"Almeida,José Carlos Cabral de"
Registros recuperados: 4
Data/hora: 09/06/2024 07:40:50

Geleophysic dysplasia: Report on two sibs
Provedor de dados: 74
Autores: Boy,Raquel; Llerena,Juan; Pimentel,Márcia Mattos Gonçalves; Almeida,José Carlos Cabral de.
The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.
Tipo: Info:eu-repo/semantics/article
Ano: 1998
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100027

Cytogenetic and molecular contributions to the study of mental retardation
Provedor de dados: 74
Autores: Llerena Jr.,Juan C.; Almeida,José Carlos Cabral de.
Tipo: Info:eu-repo/semantics/article
Ano: 1998
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000200018

Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients
Provedor de dados: 74
Autores: 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

Chromosome 6q deletion: Report of a new case and review of the literature
Provedor de dados: 74
Autores: Boy,Raquel; Pimentel,Márcia Mattos Gonçalves; Hemerly,Ana Paula; Silva,Maria do Perpétuo Socorro; Barreiro,Ana Paula; Almeida,José Carlos Cabral de; Llerena,Juan.
The authors report an additional case of partial monosomy of the long arm of chromosome 6 [46,XY,del (6)(q22 &lt;font SIZE="3" face="Symbol"&gt;®&lt;/font&gt; qter)]. Our patient has a large segment beyond 6q25 deleted, then severe psychomotor retardation is expected to occur.
Tipo: Info:eu-repo/semantics/article
Ano: 1998
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100024