Lista de obras - Isabel Veiga - Dominio Público Uruguay

A new insight into fragile X syndrome among Basque population

artículo científico publicado en 2004

A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families

artículo científico publicado en 2011

Analysis of Estrogen Receptor Polymorphism in Codon 325 by PCR-SSCP in Breast Cancer: Association With Lymph Node Metastasis

article

Carcinogenic ability of Schistosoma haematobium possibly through oncogenic mutation of KRAS gene.

artículo científico publicado en 2013

Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors

artículo científico publicado en 2010

Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal

artículo científico publicado en 2015

Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability

artículo científico publicado en 2010

Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer

artículo científico publicado en 2011

Detection of prognostic significant translocations in childhood acute lymphoblastic leukaemia by one-step multiplex reverse transcription polymerase chain reaction

artículo científico publicado en 2000

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

artículo científico publicado en 2004

E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients.

artículo científico publicado en 2004

Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families

artículo científico publicado en 2000

Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways

artículo científico publicado en 2009

High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer

artículo científico publicado en 2013

Identification of previously unrecognized FAP in children with Gardner fibroma

artículo científico publicado en 2014

Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity

artículo científico publicado en 2016

Increasing levels of MYC and MET co-amplification during tumor progression of a case of gastric cancer

artículo científico publicado en 1995

MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease

artículo científico publicado en 2006

Microsatellite instability in hyperplastic and adenomatous polyps of the stomach

artículo científico publicado en 1999

Mitochondrial genome alterations in rectal and sigmoid carcinomas

artículo científico publicado en 2009

Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients

artículo científico publicado en 2004

No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin

artículo científico publicado en 2005

POLE somatic mutations in advanced colorectal cancer

artículo científico publicado en 2017

Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation.

artículo científico publicado en 2000

Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression

artículo científico publicado en 2016

Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients

artículo científico publicado en 2010

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

artículo científico publicado en 2009

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation

artículo científico publicado en 2015

The FMR1 CGG repeat and linked microsatellite markers in two Basque valleys

scientific article published on 01 March 2003

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families

artículo científico publicado en 2012

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry

artículo científico publicado en 2014

Three novel APC gene mutations in Portuguese FAP kindreds.

artículo científico publicado en 1996

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes

artículo científico publicado en 2017

p53 alterations in gastric carcinoma:

artículo científico publicado en 1994

Lista de obras de Isabel Veiga

A new insight into fragile X syndrome among Basque population

A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families

Analysis of Estrogen Receptor Polymorphism in Codon 325 by PCR-SSCP in Breast Cancer: Association With Lymph Node Metastasis

Carcinogenic ability of Schistosoma haematobium possibly through oncogenic mutation of KRAS gene.

Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors

Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal

Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability

Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer

Detection of prognostic significant translocations in childhood acute lymphoblastic leukaemia by one-step multiplex reverse transcription polymerase chain reaction

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients.

Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families

Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways

High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer

Identification of previously unrecognized FAP in children with Gardner fibroma

Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity

Increasing levels of MYC and MET co-amplification during tumor progression of a case of gastric cancer

MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease

Microsatellite instability in hyperplastic and adenomatous polyps of the stomach

Mitochondrial genome alterations in rectal and sigmoid carcinomas

Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients

No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin

POLE somatic mutations in advanced colorectal cancer

Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation.

Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression

Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation

The FMR1 CGG repeat and linked microsatellite markers in two Basque valleys

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry

Three novel APC gene mutations in Portuguese FAP kindreds.

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes

p53 alterations in gastric carcinoma: