Artigo em conferência |
- Baixia, Márcia; Sousa, Sónia; Pina, Maria J.; Silva, Raquel M; Cirnes, Luis; Canedo, Paulo; Castedo, Sérgio; Machado, José
C,. "The bigger the better? Evaluation of the value of large multi-gene panels in Portuguese cardiomyopathy genetic testing".
2019.
- Moura, Daniela; Pina, Maria João; Pereira, Cátia; Baixia, Márcia; Leal, Rafaela; Sousa, Sónia; Vieira, Filipa Quintela; Silva,
Regina; Cirnes, Luís. "Impact of different storage conditions of formamide in the quality of sequences". 2015.
- Moura, Daniela; Pina, Maria João; Pereira, Cátia; Baixia, Márcia; Leal, Rafaela; Sousa, Sónia; Vieira, Filipa Quintela; Silva,
Regina; Cirnes, Luís. "Effects of different storage conditions of sequencing products with formamide in the quality of sequences.".
2015.
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Artigo em revista |
- Diogo Marques; Irene Gullo; Luís Mascarenhas-Lemos; João Ricardo Silva; Catarina Neto do Nascimento; Patrícia Pontes; Lídia
Pinho; et al. "Performance of Immunohistochemical and Molecular Methods in Detecting Microsatellite Instability in Gastric
Cancer: A Multicenter Study". Pathobiology (2023): 1-11. http://dx.doi.org/10.1159/000530997.
10.1159/000530997
- Marina Morais; Telma Fonseca; Diogo Melo-Pinto; Isabel Prieto; Ana Teresa Vilares; Ana Luísa Duarte; Patrícia Leitão; et al.
"Evaluation of ctDNA in the Prediction of Response to Neoadjuvant Therapy and Prognosis in Locally Advanced Rectal Cancer
Patients: A Prospective Study". Pharmaceuticals 16 3 (2023): 427-427. http://dx.doi.org/10.3390/ph16030427.
10.3390/ph16030427
- Ana Peixoto; Luís Cirnes; Ana Luísa Carvalho; Maria João Andrade; Maria José Brito; Paula Borralho; Pedro M. Borralho; et
al. "Evaluation of PIK3CA mutations in advanced ER+/HER2-breast cancer in Portugal – U-PIK Project". Frontiers in Molecular
Biosciences 10 (2023): http://dx.doi.org/10.3389/fmolb.2023.1082915.
10.3389/fmolb.2023.1082915
- Umberto Malapelle; Francesco Pepe; Pasquale Pisapia; Annalisa Altimari; Claudio Bellevicine; Hans Brunnström; Rossella Bruno;
et al. "Reference standards for gene fusion molecular assays on cytological samples: an international validation study". Journal
of Clinical Pathology 76 1 (2023): 47-52. http://dx.doi.org/10.1136/jclinpath-2021-207825.
10.1136/jclinpath-2021-207825
- Gabriela Fernandes; Ana Rodrigues; Cláudia Matos; Fernando Barata; Luís Cirnes; Lurdes Ferreira; José Albino Lopes; et al.
"Liquid biopsy in the management of advanced lung cancer: Implementation and practical aspects". Cancer Treatment and Research
Communications 36 (2023): 100725-100725. http://dx.doi.org/10.1016/j.ctarc.2023.100725.
10.1016/j.ctarc.2023.100725
- Silva, João R.; Mascarenhas-Lemos, Luís; Neto do Nascimento, Catarina; Sousa Marques, Diogo; Wen, Xiaogang; Pinho, Lídia;
Maio, Rui; et al. "Role of endoscopic biopsies and morphologic features in predicting microsatellite instability status in
gastric cancer". (2023): http://hdl.handle.net/10451/59231.
10.1097/PAS.0000000000002085
- Ricella Souza da Silva; Regina Pinto; Luis Cirnes; Fernando Schmitt. "Tissue management in precision medicine: What the pathologist
needs to know in the molecular era". Frontiers in Molecular Biosciences 9 (2022): http://dx.doi.org/10.3389/fmolb.2022.983102.
10.3389/fmolb.2022.983102
- Margarida Costa e Silva; I. Sucena; L. Cirnes; Jose Carlos Machado; S. Campainha; Ana Paixão Barroso. "KIF5B-MET fusion variant
in non-small cell lung cancer". Pulmonology 28 4 (2022): 315-316. http://dx.doi.org/10.1016/j.pulmoe.2022.02.001.
10.1016/j.pulmoe.2022.02.001
- Irene Gullo; Ana Marques; Regina Pinto; Luis Cirnes; Schmitt F.. "Morphological control for molecular testing: a practical
approach". Journal of Clinical Pathology 74 5 (2021): 331-333. http://dx.doi.org/10.1136/jclinpath-2020-206890.
10.1136/jclinpath-2020-206890
- Élia Cipriano; Helena Magalhães; Catarina Tavares; João Pinto; Luís Cirnes; Fernanda Estevinho. "Concurrent EGFR mutation
and ALK rearrangement in stage IV lung adenocarcinoma—a case report and a literature review". Porto Biomedical Journal
6 1 (2021): e124-e124. http://dx.doi.org/10.1097/j.pbj.0000000000000124.
10.1097/j.pbj.0000000000000124
- Maria Gabriela O. Fernandes; Catarina Sousa; Maria Jacob; Leonor Almeida; Vanessa Santos; David Araújo; Hélder Novais Bastos;
et al. "Resistance profile of osimertinib in pre-treated patients with EGFR T790M-mutated non-small cell lung cancer". (2021):
https://hdl.handle.net/10216/144336.
10.3389/fonc.2021.602924
- D. Reis; C. Marques; M. Dias; S. Campainha; L. Cirnes; A. Barroso. "Mutational profile of non-small cell lung cancer patients:
Use of next-generation sequencing". Pulmonology 26 1 (2020): 50-53. http://dx.doi.org/10.1016/j.pulmoe.2019.05.003.
10.1016/j.pulmoe.2019.05.003
- Pinto, Daniel; Cirnes, Luís; Pinto, Regina; Pina, Maria João; Giancarlo, Troncone; Schimitt, Fernando. "How the COVID-19 Pandemic
Impacted Oncological Molecular Diagnosis: A Picture from a National Reference Center for Molecular Pathology". (2020): http://hdl.handle.net/10400.22/16620.
10.1155/2020/8397053
- Fernandes, Maria Gabriela O.; Jacob, Maria; Martins, Natália; Moura, Conceição Souto; Guimarães, Susana; Pereira Reis, Joana;
Justino, Ana; et al. "Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving
the Way for Clinical Implementation". (2019): http://hdl.handle.net/10400.22/14843.
10.3390/cancers11091229
- Filipa Aguiar; Gabriela Fernandes; Henrique Queiroga; José Carlos Machado; Luís Cirnes; Conceição Souto Moura; Venceslau Hespanhol.
"Overall Survival Analysis and Characterization of an EGFR Mutated Non-Small Cell Lung Cancer (NSCLC) Population". Archivos
de Bronconeumología 54 1 (2018): 10-17. http://dx.doi.org/10.1016/j.arbres.2017.07.012.
10.1016/j.arbres.2017.07.012
- J. Azevedo; A. Pista; C. Lisboa; I. Santo; L. Azevedo; M.J. Cunha; the HERCOLES Study Group. "Epidemiology of human papillomavirus
on anogenital warts in Portugal – The HERCOLES study". Journal of the European Academy of Dermatology and Venereology
31 8 (2017): 1342-1348. http://dx.doi.org/10.1111/jdv.14311.
10.1111/jdv.14311
- Helena Maria Melo Torcato Barroca; Luis Cirnes; José Manuel Lopes. "Metanephric adenoma: Cytological, histological, and molecular
diagnosis of a case". Diagnostic Cytopathology 44 3 (2016): 263-266. http://dx.doi.org/10.1002/dc.23427.
10.1002/dc.23427
- Ana Justino; Patrícia Dias; Maria João Pina; Sónia Sousa; Luís Cirnes; Ana Berta Sousa; José Carlos Machado; Jose Luis Costa.
"Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes".
European Journal of Human Genetics 23 3 (2015): 347-353. http://dx.doi.org/10.1038/ejhg.2014.97.
10.1038/ejhg.2014.97
- Veiga, Nélio; Pereira, Carlos; Resende, Carlos; Amaral, Odete; Ferreira, Manuela; Nelas, Paula; Chaves, Claudia; et al. "Oral
and gastric helicobacter pylori: effects and associations". (2015): http://hdl.handle.net/10400.14/33939.
10.1371/journal.pone.0126923
- Esther D. Rossi; Renê Gerhard; Luis Cirnes; José Carlos Machado; Fernando Schmitt. "Detection of Common and Less Frequent
<b><i>EGFR</i></b> Mutations in Cytological Samples of Lung Cancer". Acta Cytologica 58 3 (2014):
275-280. http://dx.doi.org/10.1159/000363174.
10.1159/000363174
- José Luis Costa; Sónia Sousa; Ana Justino; Teresa Kay; Susana Fernandes; Luis Cirnes; Fernando Schmitt; José Carlos Machado.
"Nonoptical Massive Parallel DNA Sequencing ofBRCA1andBRCA2Genes in a Diagnostic Setting". Human Mutation
34 4 (2013): 629-635. http://dx.doi.org/10.1002/humu.22272.
10.1002/humu.22272
- Carla Pinto; Isabel Veiga; Manuela Pinheiro; Ana Peixoto; Armando Pinto; José M. Lopes; Rui M. Reis; et al. "TP53 germline
mutations in Portugal and genetic modifiers of age at cancer onset". Familial Cancer 8 4 (2009): 383-390. http://dx.doi.org/10.1007/s10689-009-9251-y.
10.1007/s10689-009-9251-y
- Angélica C. Bertagnolli; Paula Soares; Bárbara van Asch; António Amorim; Luis Cirnes; Valdemar Máximo; Geovanni D. Cassali.
"An assessment of the clonality of the components of canine mixed mammary tumours by mitochondrial DNA analysis". The Veterinary
Journal 182 2 (2009): 269-274. http://dx.doi.org/10.1016/j.tvjl.2008.07.005.
10.1016/j.tvjl.2008.07.005
- Sérgia Velho; Cátia Moutinho; Luís Cirnes; Cristina Albuquerque; Richard Hamelin; Fernando Schmitt; Fátima Carneiro; Carla
Oliveira; Raquel Seruca. "BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: Primary or secondary genetic
events in colorectal carcinogenesis?". BMC Cancer 8 1 (2008): http://dx.doi.org/10.1186/1471-2407-8-255.
10.1186/1471-2407-8-255
- Mafalda Pinto; Ying Wu; Rob G.J. Mensink; Luís Cirnes; Raquel Seruca; Robert M.W. Hofstra. "Somatic mutations in mismatch
repair genes in sporadic gastric carcinomas are not a cause but a consequence of the mutator phenotype". Cancer Genetics
and Cytogenetics 180 2 (2008): 110-114. http://dx.doi.org/10.1016/j.cancergencyto.2007.09.022.
10.1016/j.cancergencyto.2007.09.022
- G. Corso; F. Roviello; J. Paredes; C. Pedrazzani; M. Novais; J. Correia; D. Marrelli; et al. "Characterization of the P373L
E-cadherin germline missense mutation and implication for clinical management". European Journal of Surgical Oncology (EJSO)
33 9 (2007): 1061-1067. http://dx.doi.org/10.1016/j.ejso.2007.03.001.
10.1016/j.ejso.2007.03.001
- Ana Margarida Meireles; Ana Preto; Ana Sofia Rocha; Ana Paula Rebocho; Valdemar Máximo; Isabel Pereira-Castro; Severina Moreira;
et al. "Molecular and Genotypic Characterization of Human Thyroid Follicular Cell Carcinoma–Derived Cell Lines". Thyroid
17 8 (2007): 707-715. http://dx.doi.org/10.1089/thy.2007.0097.
10.1089/thy.2007.0097
- V Davalos; H Dopeso; S Velho; A M Ferreira; L Cirnes; N Díaz-Chico; C Bilbao; et al. "High EPHB2 mutation rate in gastric
but not endometrial tumors with microsatellite instability". Oncogene 26 2 (2007): 308-311. http://dx.doi.org/10.1038/sj.onc.1209780.
10.1038/sj.onc.1209780
- C Carrilho. "Distribution of HPV infection and tumour markers in cervical intraepithelial neoplasia from cone biopsies of
Mozambican women". Journal of Clinical Pathology 58 1 (2005): 61-68. http://dx.doi.org/10.1136/jcp.2004.020552.
10.1136/jcp.2004.020552
- Ralph Carvalho; Anya NA Milne; Bastiaan P van Rees; Eric Caspers; Luís Cirnes; Céu Figueiredo; G Johan A Offerhaus; Marian
AJ Weterman. "Early-onset gastric carcinomas display molecular characteristics distinct from gastric carcinomas occurring
at a later age". The Journal of Pathology 204 1 (2004): 75-83. http://dx.doi.org/10.1002/path.1602.
10.1002/path.1602
- Carla Oliveira; Paulo Ferreira; Sérgio Nabais; Luisa Campos; Ana Ferreira; Lui´s Cirnes; Catarina Castro Alves; et al. "E-Cadherin
(CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric
cancer patients". European Journal of Cancer 40 12 (2004): 1897-1903. http://dx.doi.org/10.1016/j.ejca.2004.04.027.
10.1016/j.ejca.2004.04.027
- Philip R Debruyne; Stefan J Vermeulen; Geert Berx; Marc Pocard; Ana-Sofia Correia da Rocha; Xuedong Li; Luis Cirnes; et al.
"Functional and molecular characterization of the epithelioid to round transition in human colorectal cancer LoVo cells".
Oncogene 22 46 (2003): 7199-7208. http://dx.doi.org/10.1038/sj.onc.1206628.
10.1038/sj.onc.1206628
- B Carvalho; M Pinto; L Cirnes; C Oliveira; J.C Machado; G Suriano; R Hamelin; F Carneiro; R Seruca. "Concurrent hypermethylation
of gene promoters is associated with a MSI-H phenotype and diploidy in gastric carcinomas". European Journal of Cancer
39 9 (2003): 1222-1227. http://dx.doi.org/10.1016/s0959-8049(03)00177-1.
10.1016/s0959-8049(03)00177-1
- Mafalda Pinto; Carla Oliveira; Luis Cirnes; Jos¿ Carlos Machado; Maria Ramires; Ana Nogueira; F¿tima Carneiro; Raquel Seruca.
"Promoter methylation of TGF? receptor I and mutation of TGF? receptor II are frequent events in MSI sporadic gastric carcinomas".
The Journal of Pathology 200 1 (2003): 32-38. http://dx.doi.org/10.1002/path.1327.
10.1002/path.1327
- Helena Barroca; José Luis Carvalho; Maria João Gil da Costa; Luis Cirnes; Raquel Seruca; Fernando C. Schmitt. "Detection of
<i>N-myc</i> Amplification in Neuroblastomas Using Southern Blotting on Fine Needle Aspirates". Acta Cytologica
45 2 (2001): 169-173. http://dx.doi.org/10.1159/000327272.
10.1159/000327272
- Mafalda Pinto; Carla Oliveira; José Carlos Machado; Luis Cirnes; João Tavares; Fátima Carneiro; Richard Hamelin; et al. "MSI-L
Gastric Carcinomas Share the hMLH1 Methylation Status of MSI-H Carcinomas but Not Their Clinicopathological Profile". Laboratory
Investigation 80 12 (2000): 1915-1923. http://dx.doi.org/10.1038/labinvest.3780201.
10.1038/labinvest.3780201
- Nogueira AM; Carneiro F; Raquel Seruca; Cirnes L; Veiga I; Jose Carlos Machado; Sobrinho-Simões M. "Microsatellite instability
in hyperplastic and adenomatous polyps of the stomach.". Cancer (1999): https://doi.org/10.1002/(SICI)1097-0142(19991101)86:9<1649::AID-CNCR5>3.0.CO;2-N.
10.1002/(sici)1097-0142(19991101)86:9<1649::aid-cncr5>3.0.co;2-n
- Fernando C. Schmitt; Raquel Soares; Helenice Gobbi; Fernanda Milanezzi; Filipe Santos-Silva; Luis Cirnes; Carla Costa; Raquel
Seruca. "Microsatellite instability in medullary breast carcinomas". International Journal of Cancer 82 5 (1999): 644-647.
http://dx.doi.org/10.1002/(sici)1097-0215(19990827)82:5<644::aid-ijc5>3.0.co;2-s.
10.1002/(sici)1097-0215(19990827)82:5<644::aid-ijc5>3.0.co;2-s
- Lopes; Silva; Seixas; Cirnes; Seruca. "Microsatellite instability is not associated with degree of malignancy and p53 expression
of gastrointestinal stromal tumours". Histopathology 33 6 (1998): 583-585. http://dx.doi.org/10.1046/j.1365-2559.1998.0525d.x.
10.1046/j.1365-2559.1998.0525d.x
- Fernando Carlos Schmitt; Raquel Soares; Luis Cirnes; Raquel Seruca. "PCR amplification of DNA obtained from archived hematoxylin-eosin–
and giemsa-stained breast cancer aspirates". Diagnostic Cytopathology 19 5 (1998): 395-397. http://dx.doi.org/10.1002/(sici)1097-0339(199811)19:5<395::aid-dc19>3.0.co;2-4.
10.1002/(sici)1097-0339(199811)19:5<395::aid-dc19>3.0.co;2-4
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Revisão de livro |
- Pinto, Daniel; Cirnes, Luís; Regina Pinto, Pinto; Pina, Maria João; Troncone, Giancarlo; Schmitt, Fernando. "How the COVID-19
Pandemic Impacted Oncological Molecular Diagnosis". http://hdl.handle.net/10362/106131.
https://doi.org/10.1155/2020/8397053
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Tese / Dissertação |
- Gouveia, Ana Maria Furtado. "Transcripts as modifiers of phenotypic variability in hereditary transthyretin-mediated amyloidosis
biopsies". Mestrado, 2022. http://hdl.handle.net/10400.22/21749.
- Cardoso, Luís Augusto Cirnes. ""Miocardiopatias associadas à morte súbita".". Mestrado, 2011. http://hdl.handle.net/10216/22354.
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