A5013389243- Genetic factors in colorectal cancer
- Testicular diseases and treatments
- Genomic variations and chromosomal abnormalities
- Sarcoma Diagnosis and Treatment
- Thyroid Cancer Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Neuroblastoma Research and Treatments
- Cancer-related Molecular Pathways
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Prenatal Screening and Diagnostics
- Helicobacter pylori-related gastroenterology studies
- Chromosomal and Genetic Variations
- Hedgehog Signaling Pathway Studies
- DNA Repair Mechanisms
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Renal and related cancers
- Genetic Syndromes and Imprinting
- Sexual Differentiation and Disorders
- Cardiac electrophysiology and arrhythmias
- Ovarian cancer diagnosis and treatment
- Cancer-related gene regulation
- Gastrointestinal Tumor Research and Treatment
- Ion channel regulation and function
- Renal cell carcinoma treatment
Universidade do Porto
2003-2023
Hospital de São João
1990-2023
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2018-2023
University of Manchester
2022-2023
Centro de Genética Clínica
1990-2014
Instituto Português de Oncologia Francisco Gentil
1990-2006
University of Groningen
1988-2000
Instituto Português de Oncologia de Coimbra Francisco Gentil
2000
IPO Porto
1998-2000
University of the Basque Country
1997
We report the association of <i>CDH1/E-cadherin</i> mutations with cleft lip, or without palate (CLP), in two families hereditary diffuse gastric cancer (HDGC). In each family, <i>CDH1</i> mutation was a splicing generating aberrant transcripts an in-frame deletion, removing extracellular cadherin repeat domains involved cell-cell adhesion. Such might encode mutant proteins trans-dominant negative effects. found that is highly expressed at 4 and 5 weeks frontonasal prominence, 6 lateral...
The ultrasonographic measurement of nuchal translucency thickness at 10-13 weeks gestation is accepted as an efficient method screening for chromosomal abnormalities. However, the underlying mechanism producing increased still poorly understood. purpose this study was to investigate possible contribution impaired cardiac function such increase, by studying venous return in ductus venosus, using Doppler ultrasound. In a total 65 fetuses, measured means transvaginal probe. Color-coded and...
Microsatellite instability (MSI) is a major pathway involved in gastric carcinogenesis occurring 20% of cancer (GC). However, it not clear whether MSI phenotype preferentially occurs the sporadic or familial GC, when stringent inclusion criteria are used. The aim this study was to compare frequency and hypermethylation MLH1 promoter large series GC patients (non-HNPCC non-CDH1-related) cases. Additionally, we analysed immunoexpression MMR proteins fraction Overall, 7.1%, hereditary tumours...
Background. The authors previously described a large pedigree with familial gastric polyposis and high incidence of cancer demonstrated the autosomal dominant pattern inheritance. current study histologic immunohistologic features lesions in an attempt to clarify mechanisms underlying carcinogenesis this family. Methods. studied histopathologic histochemical several specimens nine members family searched for expression carcinoembryonic antigen (CEA), p21 protein (ras oncogene), p53 (p53...
Abstract Loss of heterozygosity (LOH) affecting the long arm chromosome 6 has been found repeatedly in human cancers. Recently, our group reported that del(6)(q21‐22→qter) was most consistent structural cytogenetic abnormality gastric carcinomas. To determine more precisely deleted region, we studied 51 tumors with 9 polymorphic markers on this arm. LOH one or 39% tumors. at region 6q22.3 detected 50% informative and 6q26‐q27 37% By comparative analysis regions, identified two separate...
Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as marker chronic inflammation and high levels oxidative stress (OS). Fanconi anemia (FA) is genetic disorder associated to redox imbalance dysfunctional response OS. Clinically, it characterized by progressive bone marrow failure, which remains primary cause morbidity mortality. Macrocytosis increased fetal hemoglobin, two indicators erythropoiesis, are...
Abstract We report the cytogenetic analysis of a follicular thyroid carcinoma and its bone metastasis. Both lesions had identical chromosomal abnormalities, with der(3)t(2;3)(q13;p25) as most likely primary clonal alteration. Our findings corroborate previous observations frequent 3p deletions in carcinomas suggest that minimal region loss these tumors is 3p25→pter. © 1993 Wiley‐Liss, Inc.
Abstract Background The mechanisms of chemoresistance in ovarian cancer patients remain largely to be elucidated. Paclitaxel/cisplatin combination is the standard chemotherapeutic treatment for this disease, although some do not respond therapy. Our goals were investigate whether TUBB mutations and mismatch repair defects underlie paclitaxel cisplatin resistance. Methods Thirty-four with primary carcinomas (26 serous eight clear cell carcinomas) treated paclitaxel/cisplatin analysed. exon 4...