G. Isidro

发表

Loss of heterozygosity at chromosome 9p21 in primary neuroblastomas: evidence for two deleted regions.

M. Boavida, B. Marshall, G. Isidro, 1997, Cancer genetics and cytogenetics.

Germline versus somatic mutations of the APC gene: Evidence for mechanistic differences

M. Boavida, R. Carvalhas, B. Marshall, 1997, Human mutation.

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

P. Jordan, S. Castedo, L. Clarke, 2000, Genes, chromosomes & cancer.

Insertion of a short Alu sequence into the hMSH2 gene following a double cross over next to sequences with chi homology.

M. Boavida, B. Marshall, G. Isidro, 1996, Gene.

Naturally occurring splicing variants of the hMSH2 gene containing nonsense codons identify possible mRNA instability motifs within the gene coding region.

M. Boavida, B. Marshall, G. Isidro, 1996, Biochimica et biophysica acta.

A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.

P. Jordan, V. Gonçalves, A. Medeira, 2009, Mutation research.

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas

A. Brehm, M. Brito, M. Boavida, 2004, Human mutation.

Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families

V. Gonçalves, M. Boavida, G. Isidro, 2003, Human mutation.

Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families

Julio Cesar Sampaio P. Leite, S. Castedo, S. Bizarro, 2000, Human mutation.

P73 EXPRESSION IN NEUROBLASTOMA: A ROLE IN THE BIOLOGY OF ADVANCED TUMORS?

M. Boavida, A. Lacerda, G. Isidro, 2001, Pediatric hematology and oncology.

EMQN Best Practice Guidelines for Molecular Genetic Analysis in Hereditary Breast/Ovarian Cancer

Å. Borg, N. Loman, C. Lázaro, 2008 .