about
No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatinIncreased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patients.MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease.Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology.A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene.Chromosomal changes in human primary testicular nonseminomatous germ cell tumors.Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients.Cytogenetic study of a sclerosing stromal tumor of the ovary.TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.MSI phenotype and MMR alterations in familial and sporadic gastric cancer.BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.Altered expression of key cell cycle regulators in renal cell carcinoma associated with Xp11.2 translocation.Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a "protector" haplotype.Identification of two distinct regions of deletion at 6q in gastric carcinoma.E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients.Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case reportMediastinal germ cell tumor with secondary nongerm cell malignancy, and extensive hematopoietic activityCriteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndromeCritérios de diagnóstico da Síndrome de Brugada. Podemos melhorar?Positive biochemical screening for trisomy 18: on the path of trisomy 9Increased fetal nuchal translucency: possible involvement of early cardiac failureClonal cytogenetic abnormalities and telomeric associations in a fibroxanthoma of the stomachLoss of Y chromosome in gastric carcinomaCytogenetic findings in 18 follicular thyroid adenomasThyroid nodular hyperplasiaIncreasing levels of MYC and MET co-amplification during tumor progression of a case of gastric cancerp53 alterations in gastric carcinoma:A malignant mixed gonadal stromal tumor of the testis with heterologous components and i(12p) in one of its metastasesA residual mature teratoma with a more balanced karyotype than the primary testicular nonseminoma?Cytogenetics of a case of osteosarcomaKaryotyping and DNA flow cytometry of an orchidoblastomaFrequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemiaDetection of prognostic significant translocations in childhood acute lymphoblastic leukaemia by one-step multiplex reverse transcription polymerase chain reactionA complex balanced chromosomal rearrangement in repeated abortionsPloidy of testicular carcinoma in situ.Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation.
P50
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P50
description
onderzoeker
@nl
researcher, ORCID id # 0000-0003-0582-5178
@en
name
Sérgio Castedo
@ast
Sérgio Castedo
@en
Sérgio Castedo
@nl
type
label
Sérgio Castedo
@ast
Sérgio Castedo
@en
Sérgio Castedo
@nl
prefLabel
Sérgio Castedo
@ast
Sérgio Castedo
@en
Sérgio Castedo
@nl
P106
P31
P496
0000-0003-0582-5178