Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Glória Isidro"'
Autor:
Martine Bourqui, Joana Lobo Vicente, Elena Tarroja, Andromachi Katsonouri, Ovnair Sepai, Maria João Silva, Robert Barouki, Hans Reynders, Glória Isidro, Maja Mampaey, Natalie von Goetz, Henriqueta Louro, Sónia Namorado
Publikováno v:
ISEE Conference Abstracts. 2021
publicado em: Environ Health Perspect. 2021;1. https://ehp.niehs.nih.gov/doi/abs/10.1289/isee.2021.P-481 BACKGROUND AND AIM:The development of Human Biomonitoring (HBM) surveys is highly dependent on the cooperation and engagement of the individuals
Autor:
Fernando Regateiro, J. M. Romãozinho, G. Boavida, F. Castro‐Sousa, Pedro Amaro, Glória Isidro, O. Albuquerque, Júlio S. Leite, M. Martins
Publikováno v:
Colorectal Disease. 7:327-331
Objectives The MYH gene has recently been associated with multiple colorectal tumours. It participates in the DNA base-excision-repair, avoiding mutations in other genes, namely the APC and Ki-ras. Recently, biallelic MYH mutations have been describe
Autor:
Antonio Gentil Martins, Glória Isidro, M.G. Boavida, Ana Forjaz de Lacerda, Paulo Matos, Ester Vieira
Publikováno v:
Pediatric Hematology and Oncology. 18:37-46
p73, a recently identified gene showing high homology to p53 and mapping to 1p36.33, was presented as a candidate gene for neuroblastoma. In this study the authors evaluate the levels and allelic nature of p73 expression in primary neuroblastomas usi
Autor:
Peter Jordan, Isabel Veiga, José Silva Ramos, Glória Isidro, Sérgio Castedo, Luka A. Clarke, M.G. Boavida
Publikováno v:
Genes, Chromosomes and Cancer. 29:367-370
One of the most commonly mutated mismatch repair genes in human nonpolyposis colorectal cancer (HNPCC) is MLH1. We identified a splice site mutation in MLH1 in a colorectal cancer proband (T-to-A at position −11 of intron 1 splice acceptor) and inv
Publikováno v:
Cancer Genetics and Cytogenetics. 96:134-139
The genes responsible for the development of neuroblastoma following in vivo deletion or mutation are largely unknown. We have performed loss of heterozygosity studies on a series of 24 Portuguese primary neuroblastomas using 6 polymorphic markers lo
Publikováno v:
Gene. 174:175-179
Alu repeat sequences and other multiple copy repetitive elements are present throughout the human genome and are active in promoting recombination. It is believed that reverse transcription of transcribed Alu repeats followed by chromosomal integrati
Autor:
Ofélia Antunes, Ana Medeira, Peter Jordan, Glória Isidro, José Silva Ramos, Vânia Gonçalves, Patrícia Theisen
Publikováno v:
Mutation research. 662(1-2)
A missense mutation at codon 640 in the APC gene was identified in a familial adenomatous polyposis (FAP) patient, however, its pathological consequence remained unclear. Here we found that this missense mutation interferes at the nucleotide level wi
Publikováno v:
Human Mutation. 9:286-288
Publikováno v:
Biochimica et biophysica acta. 1308(1)
We have identified certain unusually spliced cDNA species following PCR amplification of peripheral blood lymphocyte (PBL) mRNA from the hMSH2 gene. A naturally occurring transcript containing a nonsense codon due to the skipping of 5 exons was ampli
Autor:
António Brehm, I.M. Gaspar, Fernando Regateiro, Clara Castro, J. Soares, João Gíria, F. Castro e Sousa, Júlio Leite, Henrique Morna, Ana Pires, Francisco Laranjeira, Glória Isidro, Carla Marinho, Maria José Brito, Ricardo Rodrigues Teixeira, Rosa Jorge, J. Silva Ramos, Ana Medeira, M.G. Boavida
Publikováno v:
Scopus-Elsevier
Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous po