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| Lapunzina,Pablo; López,Rocío Ortiz; Rodríguez-Laguna,Lara; García-Miguel,Purificación; Martínez,Augusto Rojas; Martínez-Glez,Víctor. |
| The increased speed and decreasing cost of sequencing, along with an understanding of the clinical relevance of emerging information for patient management, has led to an explosion of potential applications in healthcare. Currently, SNP arrays and Next-Generation Sequencing (NGS) technologies are relatively new techniques used to scan genomes for gains and losses, losses of heterozygosity (LOH), SNPs, and indel variants as well as to perform complete sequencing of a panel of candidate genes, the entire exome (whole exome sequencing) or even the whole genome. As a result, these new high-throughput technologies have facilitated progress in the understanding and diagnosis of genetic syndromes and cancers, two disorders traditionally considered to be separate... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: NGS; New technologies; Developmental syndrome; Cancer predisposition. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200010 |
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| Nevado,Julián; Mergener,Rafaella; Palomares-Bralo,María; Souza,Karen Regina; Vallespín,Elena; Mena,Rocío; Martínez-Glez,Víctor; Mori,María Ángeles; Santos,Fernando; García-Miñaur,Sixto; García-Santiago,Fé; Mansilla,Elena; Fernández,Luis; Torres,María Luisa de; Riegel,Mariluce; Lapunzina,Pablo. |
| Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Microdeletion; Microduplication; Chromosome rearrangement; Novel deletions; Novel duplications. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007 |
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| 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 |
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