Lista de obras - Eduard Serra - Dominio Público Uruguay

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

artículo científico publicado en 2018

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

artículo científico publicado en 2017

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism

scientific article published on 02 June 2011

Analysis of intra-tumor heterogeneity in Neurofibromatosis Type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.

artículo científico publicado en 2018

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

scientific article published on 04 January 2017

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

artículo científico publicado en 2000

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

artículo científico publicado en 2018

Epigenetic induction of the Ink4a/Arf locus prevents Schwann cell overproliferation during nerve regeneration and after tumorigenic challenge

artículo científico publicado en 2013

Forward genetic screen for malignant peripheral nerve sheath tumor formation identifies new genes and pathways driving tumorigenesis

artículo científico publicado en 2013

HuR/ELAVL1 drives malignant peripheral nerve sheath tumour growth and metastasis

artículo científico publicado en 2020

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.

artículo científico publicado en 2012

Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene

artículo científico publicado en 2009

KIF11 and KIF15 mitotic kinesins are potential therapeutic vulnerabilities for malignant peripheral nerve sheath tumors

artículo científico publicado en 2020

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

article by Ludwine Messiaen et al published 28 January 2011 in Human Mutation

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules

artículo científico publicado en 2019

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

artículo científico publicado en 2000

NF1mutation rather than individual genetic variability is the main determinant of theNF1-transcriptional profile of mutations affecting splicing

artículo científico publicado en 2006

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

artículo científico publicado en 2008

Negative feedback that improves information transmission in yeast signalling

artículo científico publicado en 2008

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

artículo científico publicado en 2012

Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis

artículo científico publicado en 2013

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

artículo científico publicado en 2003

Regulated cell-to-cell variation in a cell-fate decision system

artículo científico publicado en 2005

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

artículo científico publicado en 2019

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

article

The Alpha Project: a model system for systems biology research.

artículo científico publicado en 2008

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients

artículo científico publicado en 2007

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

artículo científico publicado en 2007

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

artículo científico publicado en 2021

regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests

artículo científico publicado en 2015

Lista de obras de Eduard Serra

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism

Analysis of intra-tumor heterogeneity in Neurofibromatosis Type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

Epigenetic induction of the Ink4a/Arf locus prevents Schwann cell overproliferation during nerve regeneration and after tumorigenic challenge

Forward genetic screen for malignant peripheral nerve sheath tumor formation identifies new genes and pathways driving tumorigenesis

HuR/ELAVL1 drives malignant peripheral nerve sheath tumour growth and metastasis

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.

Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene

KIF11 and KIF15 mitotic kinesins are potential therapeutic vulnerabilities for malignant peripheral nerve sheath tumors

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

NF1mutation rather than individual genetic variability is the main determinant of theNF1-transcriptional profile of mutations affecting splicing

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

Negative feedback that improves information transmission in yeast signalling

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

Regulated cell-to-cell variation in a cell-fate decision system

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

The Alpha Project: a model system for systems biology research.

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests