Lista de obras -

A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene.

artículo científico publicado en 2012

A complex balanced chromosomal rearrangement in repeated abortions

artículo científico publicado en 1987

A malignant mixed gonadal stromal tumor of the testis with heterologous components and i(12p) in one of its metastases

artículo científico publicado en 1989

A residual mature teratoma with a more balanced karyotype than the primary testicular nonseminoma?

artículo científico publicado en 1988

Aberrant expression of synaptophysin in two metastatic alveolar rhabdomyosarcomas. Pitfalls in fine needle aspiration cytology diagnosis

artículo científico publicado en 2009

Altered expression of key cell cycle regulators in renal cell carcinoma associated with Xp11.2 translocation

artículo científico publicado en 2009

Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a "protector" haplotype.

artículo científico publicado en 1998

Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis

artículo científico publicado en 1997

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

artículo científico publicado en 2006

Chromosomal changes in human primary testicular nonseminomatous germ cell tumors.

artículo científico publicado en 1989

Chromosomal changes in mature residual teratomas following polychemotherapy

scientific article published on 01 February 1989

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

artículo científico publicado en 2005

Clonal cytogenetic abnormalities and telomeric associations in a fibroxanthoma of the stomach

scientific article published on 01 November 1992

Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome

article

Critérios de diagnóstico da Síndrome de Brugada. Podemos melhorar?

artículo científico publicado en 2012

Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology.

artículo científico publicado en 1990

Cytogenetic analysis of ten human seminomas

artículo científico publicado en 1989

Cytogenetic and fluorescence in situ hybridization studies in a case of anaplastic thyroid carcinoma

artículo científico publicado en 1998

Cytogenetic findings in 18 follicular thyroid adenomas

scientific article published on 01 May 1993

Cytogenetic findings in 31 papillary thyroid carcinomas

artículo científico publicado en 1995

Cytogenetic investigations of 340 thyroid hyperplasias and adenomas revealing correlations between cytogenetic findings and histology

scientific article published on 01 February 1998

Cytogenetic study of a sclerosing stromal tumor of the ovary.

artículo científico publicado en 1990

Cytogenetics of 12 cases of renal adenocarcinoma

artículo científico publicado en 1988

Cytogenetics of a case of osteosarcoma

scientific article published on 01 May 1988

Cytologic and cytogenetic diagnosis of pediatric renal cell carcinoma associated with t(X;17)

artículo científico publicado en 2008

Deletion of 3p25-->pter in a primary follicular thyroid carcinoma and its metastasis

scientific article published on 01 November 1993

Detection of numerical alterations for chromosomes 7 and 12 in benign thyroid lesions by in situ hybridization. Histological implications ⬇️

artículo científico publicado el 1 de julio de 1995

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

artículo científico publicado en 2000

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

Eleven novel APC mutations identified in Portuguese FAP families

artículo científico publicado en 2000

Follicular thyroid carcinoma: Chromosome analysis of 19 cases ⬇️

artículo científico publicado el 1 de marzo de 1998

Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families

artículo científico publicado en 2000

Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia

artículo científico publicado en 2003

Genetic markers in thyroid tumors

artículo científico publicado en 1993

Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patients

artículo científico publicado en 2004

Identification of two distinct regions of deletion at 6q in gastric carcinoma.

artículo científico publicado en 1995

Increased fetal nuchal translucency: possible involvement of early cardiac failure

artículo científico publicado en 1997

Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.

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

Isochromosome 8q. A recurrent change in gastric carcinoma

artículo científico publicado en 1991

Karyotyping and DNA flow cytometry of an orchidoblastoma

artículo científico publicado en 1988

Karyotyping and DNA flow cytometry of metastatic ovarian yolk sac tumor

artículo científico publicado en 1990

Loss of Y chromosome in gastric carcinoma

artículo científico publicado en 1992

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

artículo científico publicado en 2006

MSI phenotype and MMR alterations in familial and sporadic gastric cancer

artículo científico publicado en 2010

Mediastinal germ cell tumor with secondary nongerm cell malignancy, and extensive hematopoietic activity

artículo científico publicado en 1991

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

artículo científico publicado en 2009

Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY

scientific article published on 01 April 1992

Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

artículo científico publicado en 2000

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

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

artículo científico publicado en 2000

Ploidy of primary germ cell tumors of the testis. Pathogenetic and clinical relevance

artículo científico publicado en 1989

Ploidy of testicular carcinoma in situ.

artículo científico publicado en 1992

Positive biochemical screening for trisomy 18: on the path of trisomy 9

artículo científico publicado en 2008

Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report

artículo científico publicado en 2014

Prenatal diagnosis of partial trisomy 2q. Case report

artículo científico publicado en 1997

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement

artículo científico publicado en 2005

Probability tables for exclusion of mosaicism in prenatal diagnosis

scientific article published on 01 February 1997

Significance of trisomy 7 and 12 in thyroid lesions with follicular differentiation: a cytogenetic and in situ hybridization study

scientific article published on 01 April 1999

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

artículo científico publicado en 2009

Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.

artículo científico publicado en 2001

Three cases of mosaicism for balanced reciprocal translocations

artículo científico publicado en 1998

Thyroid nodular hyperplasia

artículo científico publicado en 1993

Translocation t(5;19): a recurrent change in thyroid follicular adenoma

artículo científico publicado en 1992

Trisomy 7 in a case of angiomyolipoma

scientific article published on 01 September 1988

[Cytogenetic changes in benign thyroid gland hyperplasias and adenomas correlated with histology]

artículo científico publicado en 1997

p53 alterations in gastric carcinoma:

artículo científico publicado en 1994

Lista de obras de

A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene.

A complex balanced chromosomal rearrangement in repeated abortions

A malignant mixed gonadal stromal tumor of the testis with heterologous components and i(12p) in one of its metastases

A residual mature teratoma with a more balanced karyotype than the primary testicular nonseminoma?

Aberrant expression of synaptophysin in two metastatic alveolar rhabdomyosarcomas. Pitfalls in fine needle aspiration cytology diagnosis

Altered expression of key cell cycle regulators in renal cell carcinoma associated with Xp11.2 translocation

Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a "protector" haplotype.

Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

Chromosomal changes in human primary testicular nonseminomatous germ cell tumors.

Chromosomal changes in mature residual teratomas following polychemotherapy

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

Clonal cytogenetic abnormalities and telomeric associations in a fibroxanthoma of the stomach

Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome

Critérios de diagnóstico da Síndrome de Brugada. Podemos melhorar?

Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology.

Cytogenetic analysis of ten human seminomas

Cytogenetic and fluorescence in situ hybridization studies in a case of anaplastic thyroid carcinoma

Cytogenetic findings in 18 follicular thyroid adenomas

Cytogenetic findings in 31 papillary thyroid carcinomas

Cytogenetic investigations of 340 thyroid hyperplasias and adenomas revealing correlations between cytogenetic findings and histology

Cytogenetic study of a sclerosing stromal tumor of the ovary.

Cytogenetics of 12 cases of renal adenocarcinoma

Cytogenetics of a case of osteosarcoma

Cytologic and cytogenetic diagnosis of pediatric renal cell carcinoma associated with t(X;17)

Deletion of 3p25-->pter in a primary follicular thyroid carcinoma and its metastasis

Detection of numerical alterations for chromosomes 7 and 12 in benign thyroid lesions by in situ hybridization. Histological implications ⬇️

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

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

Eleven novel APC mutations identified in Portuguese FAP families

Follicular thyroid carcinoma: Chromosome analysis of 19 cases ⬇️

Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families

Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia

Genetic markers in thyroid tumors

Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patients

Identification of two distinct regions of deletion at 6q in gastric carcinoma.

Increased fetal nuchal translucency: possible involvement of early cardiac failure

Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.

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

Isochromosome 8q. A recurrent change in gastric carcinoma

Karyotyping and DNA flow cytometry of an orchidoblastoma

Karyotyping and DNA flow cytometry of metastatic ovarian yolk sac tumor

Loss of Y chromosome in gastric carcinoma

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

MSI phenotype and MMR alterations in familial and sporadic gastric cancer

Mediastinal germ cell tumor with secondary nongerm cell malignancy, and extensive hematopoietic activity

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY

Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

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

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

Ploidy of primary germ cell tumors of the testis. Pathogenetic and clinical relevance

Ploidy of testicular carcinoma in situ.

Positive biochemical screening for trisomy 18: on the path of trisomy 9

Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report

Prenatal diagnosis of partial trisomy 2q. Case report

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement

Probability tables for exclusion of mosaicism in prenatal diagnosis

Significance of trisomy 7 and 12 in thyroid lesions with follicular differentiation: a cytogenetic and in situ hybridization study

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

Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.

Three cases of mosaicism for balanced reciprocal translocations

Thyroid nodular hyperplasia

Translocation t(5;19): a recurrent change in thyroid follicular adenoma

Trisomy 7 in a case of angiomyolipoma

[Cytogenetic changes in benign thyroid gland hyperplasias and adenomas correlated with histology]

p53 alterations in gastric carcinoma: