Biomarkers in Translational and Clinical Oncology

AZD-7648, a DNA-PK Inhibitor, Induces DNA Damage, Apoptosis, and Cell Cycle Arrest in Chronic and Acute Myeloid Leukemia Cells

Lapa, B.S.; Costa, M.I.; Figueiredo, D.; Jorge, J.; Alves, R.; Monteiro, A.R.; Serambeque, B.; et al, 2023. International Journal of Molecular Sciences. 20. 24. 2023. http://www.scopus.com/inward/record.url?eid=2-s2.0-85175266994&partnerID=MN8TOARS . 10.3390/ijms242015331 . International Journal of Molecular Sciences

Human Gingival Fibroblasts Response to Different Endodontic Sealers: An In Vitro Study

Noites, R.; Tavares, I.; Cardoso, M.; Carreira, I.M.; Bartolomeu, M.; Duarte, A.S.; Ribeiro, I.P., 2023. Applied Sciences (Switzerland). 19. 13. 2023. http://www.scopus.com/inward/record.url?eid=2-s2.0-85174208407&partnerID=MN8TOARS . 10.3390/app131910976 . Applied Sciences (Switzerland)

Basal cell carcinomas of the scalp after radiotherapy for tinea capitis: Clinicopathological study in a case series of 96 patients with analysis of 427 tumours

José Carlos Cardoso; Francisca Alves; Rebeca Calado; Mariana Batista; Isabel Marques Carreira; Oscar Tellechea, 2023. Australasian Journal of Dermatology. 2023. https://doi.org/10.1111/ajd.13940 . 10.1111/ajd.13940 . Australasian Journal of Dermatology

Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAMP21

Capela de Matos, RR; Othman, MAK; Ferreira, GM; Monteso, KCA; de Souza, MT; Rouxinol, M; Melo, JB; et al, 2022. Cancer Genetics. 16 - 22. 262-263. 2022. http://dx.doi.org/10.1016/j.cancergen.2021.12.003 . 10.1016/j.cancergen.2021.12.003 . Cancer Genetics

Development of a genomic predictive model for cholangiocarcinoma using copy number alteration data

Tavares, Inês; Martins, Ricardo; Ribeiro, Ilda Patrícia; Esteves, Luísa; Caramelo, Francisco; Abrantes, Ana Margarida; Neves, Rita; et al, 2022. Journal of Clinical Pathology. 274 - 278. 4. 75. 2022. http://dx.doi.org/10.1136/jclinpath-2020-207346 . 10.1136/jclinpath-2020-207346 . Journal of Clinical Pathology

Should sitting time be a treatment target in head and neck cancer patients receiving curative treatment?

Ribeiro, Ilda Patrícia; Lopes, Teresa; Pedro, Nicole; Barroso, Leonor; Costa, Rui; Carreira, Isabel Marques; Ribeiro, Fernando, 2022. Oral Oncology. 124. 2022. http://dx.doi.org/10.1016/j.oraloncology.2021.105418 . 10.1016/j.oraloncology.2021.105418 . Oral Oncology

Basal Cell Carcinomas After Radiotherapy Show More Frequent Follicular Differentiation Than Tumors From Sun-Exposed Areas: Immunohistochemical Study With a Special Focus on Infundibulocystic Basal Cell Carcinoma

José Carlos Cardoso; Francisca Alves; Isabel Marques Carreira; Oscar Tellechea, 2022. The American Journal of Dermatopathology. 879 - 885. 12. 44. 2022. http://dx.doi.org/10.1097/dad.0000000000002321 . 10.1097/dad.0000000000002321 . The American Journal of Dermatopathology

The need for recognition of core professional groups in genetics healthcare services in Europe

Isabel M Carreira, 2022. European Journal of Human Genetics. 639 - 640. 6. 30. 2022. http://dx.doi.org/10.1038/s41431-022-01080-3 . 10.1038/s41431-022-01080-3 . European Journal of Human Genetics

Zinc Prevents DNA Damage in Normal Cells but Shows Genotoxic and Cytotoxic Effects in Acute Myeloid Leukemia Cells

Costa, Maria Inês; Lapa, Beatriz Santos; Jorge, Joana; Alves, Raquel; Carreira, Isabel Marques; Sarmento-Ribeiro, Ana Bela; Gonçalves, Ana Cristina, 2022. International Journal of Molecular Sciences. 5. 23. 2022. http://dx.doi.org/10.3390/ijms23052567 . 10.3390/ijms23052567 . International Journal of Molecular Sciences

Integrated Multi-Omics Signature Predicts Survival in Head and Neck Cancer

Ribeiro, Ilda Patrícia; Esteves, Luísa; Caramelo, Francisco; Carreira, Isabel; Melo, Joana Barbosa, 2022. Cells. 16. 11. 2022. http://dx.doi.org/10.3390/cells11162536 . 10.3390/cells11162536 . Cells

Erratum: The need for recognition of core professional groups in genetics healthcare services in Europe (Medizinische Genetik (2022) 34 (81-83), DOI: 10.1515/medgen-2022-2116),Erratum zu: über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa (Medizinische Genetik (2022) 34 (81-83) DOI: 10.1515/medgen-2022-2116)

Paneque, M.; Serra Juhé, C.; Melegh, B.; Carreira, I.; Moog, U.; Liehr, T., 2022. Medizinische Genetik. 189 - 191. 2. 34. 2022. http://www.scopus.com/inward/record.url?eid=2-s2.0-85137901141&partnerID=MN8TOARS . 10.1515/medgen-2022-2122 . Medizinische Genetik

Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa

Paneque, M.; Serra Juhé, C.; Melegh, B.; Carreira, I.; Moog, U.; Liehr, T., 2022. Medizinische Genetik. 81 - 83. 1. 34. 2022. http://www.scopus.com/inward/record.url?eid=2-s2.0-85130614071&partnerID=MN8TOARS . 10.1515/medgen-2022-2116 . Medizinische Genetik

Recommendations for reporting results of diagnostic genomic testing

Isabel M Carreira; Zandra Deans; Joo Wook Ahn; Isabel M. Carreira; Elisabeth Dequeker; Mick Henderson; Luca Lovrecic; et al, 2022. European Journal of Human Genetics. 1011 - 1016. 9. 30. 2022. http://dx.doi.org/10.1038/s41431-022-01091-0 . 10.1038/s41431-022-01091-0 . European Journal of Human Genetics

Genomic characterisation of multiple myeloma: study of a Portuguese cohort

Couto Oliveira, Alexandra; Ribeiro, Ilda Patrícia; Pires, Luís Miguel; Gonçalves, Ana Cristina; Paiva, Artur; Geraldes, Catarina; Roque, Adriana; et al, 2021. Journal of Clinical Pathology. 422 - 425. 6. 75. 2021. http://dx.doi.org/10.1136/jclinpath-2020-207204 . 10.1136/jclinpath-2020-207204 . Journal of Clinical Pathology

Multiple Basal Cell Carcinomas of the Scalp after Radiotherapy: Genomic Study in a Case with Latency Period over 80 Years

Cardoso, J.C.; Ribeiro, I.P.; Caramelo, F.; Tellechea, O.; Barbosa De Melo, J.; Marques Carreira, I., 2021. American Journal of Dermatopathology. 438 - 442. 6. 43. 2021. http://www.scopus.com/inward/record.url?eid=2-s2.0-85106666652&partnerID=MN8TOARS . 10.1097/DAD.0000000000001801 . American Journal of Dermatopathology

A seven-gene signature to predict the prognosis of oral squamous cell carcinoma

Ilda Patrícia Ribeiro; Luísa Esteves; Ana Santos; Leonor Barroso; Francisco Marques; Francisco Caramelo; Joana Barbosa Melo; Isabel Marques Carreira, 2021. Oncogene. 2021. https://doi.org/10.1038/s41388-021-01806-5 . 10.1038/s41388-021-01806-5 . Oncogene

Genomic-Metabolomic Associations Support the Role of LIPC and Glycerophospholipids in Age-Related Macular Degeneration

Lains, Ines; Zhu, Shujian; Han, Xikun; Chung, Wonil; Yuan, Qianyu; Kelly, Rachel S.; Gil, Joao Q.; et al, 2021. Ophthalmology Science. 1. 1. 2021. http://dx.doi.org/10.1016/j.xops.2021.100017 . 10.1016/j.xops.2021.100017 . Ophthalmology Science

Liquid Biopsies: Applications for Cancer Diagnosis and Monitoring

2021. Genes. 349 - 349. 3. 12. 2021. http://dx.doi.org/10.3390/genes12030349 . 10.3390/genes12030349 . Genes

Intratumoral Heterogeneity in Uveal Melanoma

Fonseca, Cristina; Pinto-Proença, Rita; Bergeron, Sabrina; Pires, Luís Miguel; Fernandes, Júlia; Carreira, Isabel Marques; Burnier, Miguel N.; Proença, Rui, 2020. Ocular Oncology and Pathology. 1 - 9. 2020. http://dx.doi.org/10.1159/000508517 . 10.1159/000508517 . Ocular Oncology and Pathology

Probability distribution of copy number alterations along the genome: an algorithm to distinguish different tumour profiles

Esteves, Luísa; Caramelo, Francisco; Ribeiro, Ilda Patrícia; Carreira, Isabel M.; de Melo, Joana Barbosa, 2020. Scientific Reports. 1. 10. 2020. http://dx.doi.org/10.1038/s41598-020-71859-1 . 10.1038/s41598-020-71859-1 . Scientific Reports

Proteomics-based Predictive Model for the Early Detection of Metastasis and Recurrence in Head and Neck Cancer

RIBEIRO, ILDA PATRÍCIA; ESTEVES, LUÍSA; ANJO, SANDRA ISABEL; MARQUES, FRANCISCO; BARROSO, LEONOR; MANADAS, BRUNO; CARREIRA, ISABEL MARQUES; MELO, JOANA BARBOSA, 2020. Cancer Genomics - Proteomics. 259 - 269. 3. 17. 2020. http://dx.doi.org/10.21873/cgp.20186 . 10.21873/cgp.20186 . accepted Cancer Genomics - Proteomics

Basal cell carcinomas of the scalp after radiotherapy for tinea capitis in childhood: a genetic and epigenetic study with comparison with basal cell carcinomas evolving in chronically sun-exposed areas

Cardoso, José Carlos; Ribeiro, Ilda Patrícia; Caramelo, Francisco; Tellechea, Oscar; de Melo, Joana Barbosa; Carreira, Isabel Marques, 2020. Experimental Dermatology. 2020. http://dx.doi.org/10.1111/exd.14237 . 10.1111/exd.14237 . published Experimental Dermatology

Upper aerodigestive tract carcinoma: Development of a (epi)genomic predictive model for recurrence and metastasis

Ribeiro, Ilda; Caramelo, Francisco; Ribeiro, Margarida; Machado, Ana; Migu¿is, Jorge; Marques, Francisco; Carreira, Isabel; Melo, Joana, 2020. Oncology Letters. 3459 - 3468. 2020. http://dx.doi.org/10.3892/ol.2020.11459 . 10.3892/ol.2020.11459 . published Oncology Letters

Tremor is a major feature of 9p13 deletion syndrome

Ferreira, Susana Isabel; Cinnirella, Giacomo; Ramos, Lina; Suppa, Antonio; Pires, Luís Miguel; Nardone, Anna Maria; Camerota, Letizia; et al, 2020. American Journal of Medical Genetics Part A. 2694 - 2698. 11. 182. 2020. http://dx.doi.org/10.1002/ajmg.a.61807 . 10.1002/ajmg.a.61807 . American Journal of Medical Genetics Part A

Iodine-131 metabolic radiotherapy leads to cell death and genomic alterations through NIS overexpression on cholangiocarcinoma

Brito, Ana; Abrantes, Ana; Teixo, Ricardo; Pires, Ana; Ribeiro, Ana; Ferreira, Rafael; Fernandes, Alexandra; et al, 2020. International Journal of Oncology. 709 - 727. 3. 56. 2020. http://dx.doi.org/10.3892/ijo.2020.4957 . 10.3892/ijo.2020.4957 . published International Journal of Oncology

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Carreira, Isabel; Eunice matoso; Susana Isabel FERREIRA; Ana Raquel NEVES; Ana Sofia PAIS; Maria João CARVALHO; Alexandra ESTEVINHO; et al, 2020. Acta Med Port. 1 - 7. 13. 33. 2020. https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490 . 10.20344/amp.13490 . published Acta Med Port

Phenotypic and genetic variations between Asian and Caucasian polypoidal choroidal vasculopathy

Jordan-Yu, Janice Marie; Teo, Kelvin; Fan, Qiao; Gana, Jose Carlos; Leopando, Anna Karina; Nunes, Sandrina; Farinha, Cláudia; et al, 2020. British Journal of Ophthalmology. bjophthalmol - 2020. 2020. http://dx.doi.org/10.1136/bjophthalmol-2020-317537 . 10.1136/bjophthalmol-2020-317537 . British Journal of Ophthalmology

Impact of prematurity on newborn urine: a metabolomics strategy to identify markers of organ maturity

Duarte, Daniela; Pita, Cristina; Negrão, Fátima; Carreira, Isabel M.; Almeida, Maria do Céu; Domingues, Pedro; Gil, Ana M., 2020. 2020. https://proa.ua.pt/index.php/jshd/article/view/19575 . 10.34624/jshd.v2i2.19575 .

An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case

Wafa, Abdulsamad; Jarjour, Rami A.; Aljapawe, Abdulmunim; ALmedania, Suher; Liehr, Thomas; Melo, Joana B.; Carreira, Isabel M.; Othman, Moneeb A. K.; Al-Achkar, Walid, 2020. Molecular Cytogenetics. 1. 13. 2020. http://dx.doi.org/10.1186/s13039-020-00499-x . 10.1186/s13039-020-00499-x . Molecular Cytogenetics

Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B-cell acute lymphoblastic leukemia: A case report

Othman, Moneeb; Ðurišic, Marina; Samardzija, Gordana; Vujic, Dragana; Lakic, Nina; Zecevic, Zeljko; Al-Shaheri, Fawaz; et al, 2020. Oncology Letters. 2957 - 2962. 4. 19. 2020. http://dx.doi.org/10.3892/ol.2020.11387 . 10.3892/ol.2020.11387 . published Oncology Letters

Regulatory landscape of providing information on newborn screening to parents across Europe

Franková, Vera; Driscoll, Riona O.; Jansen, Marleen E.; Loeber, J. Gerard; Kožich, Viktor; Bonham, James; Borde, Patricia; et al, 2020. European Journal of Human Genetics. 67 - 78. 1. 29. 2020. http://dx.doi.org/10.1038/s41431-020-00716-6 . 10.1038/s41431-020-00716-6 . European Journal of Human Genetics

A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome

Wafa, Abdulsamad; Jarjour, Rami A.; Alolabi, Doaa; Liehr, Thomas; Hamdan, Othman; Melo, Joana B.; Carreira, Isabel M.; Othman, Moneeb A. K.; Al-Achkar, Walid, 2020. Molecular Cytogenetics. 1. 13. 2020. http://dx.doi.org/10.1186/s13039-020-00512-3 . 10.1186/s13039-020-00512-3 . Molecular Cytogenetics

(Cyto)genomic and epigenetic characterization of BICR 10 cell line and three new established primary human head and neck squamous cell carcinoma cultures

Ribeiro, I.P.; Rodrigues, J.M.; Mascarenhas, A.; Marques, V.; Caramelo, F.; Julião, M.J.; Liehr, T.; Melo, J.B.; Carreira, I.M., 2019. Genes and Genomics. 1207 - 1221. 10. 41. 2019. http://www.scopus.com/inward/record.url?eid=2-s2.0-85069506475&partnerID=MN8TOARS . 10.1007/s13258-019-00850-6 . Genes and Genomics

Molecular characterization of dilated cardiomyopathy,Caracterização molecular da miocardiopatia dilatada

Carreira, I.M., 2019. Revista Portuguesa de Cardiologia. 141 - 142. 2. 38. 2019. http://www.scopus.com/inward/record.url?eid=2-s2.0-85062808788&partnerID=MN8TOARS . 10.1016/j.repc.2019.02.002 . Revista Portuguesa de Cardiologia

Urine Nuclear Magnetic Resonance (NMR) Metabolomics in Age-Related Macular Degeneration

2019. Journal of Proteome Research. 1278 - 1288. 3. 18. 2019. http://dx.doi.org/10.1021/acs.jproteome.8b00877 . 10.1021/acs.jproteome.8b00877 . Journal of Proteome Research

Stroma-derived IL-6, G-CSF and Activin-A mediated dedifferentiation of lung carcinoma cells into cancer stem cells

Rodrigues, C.F.D.; Serrano, E.; Patrício, M.I.; Val, M.M.; Albuquerque, P.; Fonseca, J.; Gomes, C.M.F.; et al, 2018. Scientific Reports. 1. 8. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85050990420&partnerID=MN8TOARS . 10.1038/s41598-018-29947-w . Scientific Reports

Cytogenetic, genomic, and epigenetic characterization of the hsc-3 tongue cell line with lymph node metastasis

Ribeiro, I.P.; Rodrigues, J.M.; Mascarenhas, A.; Kosyakova, N.; Caramelo, F.; Liehr, T.; Melo, J.B.; Carreira, I.M., 2018. Journal of Oral Science. 70 - 81. 1. 60. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85044328214&partnerID=MN8TOARS . 10.2334/josnusd.16-0811 . Journal of Oral Science

Genomic and epigenetic signatures associated with survival rate in oral squamous cell carcinoma patients

Ribeiro, I.P.; Caramelo, F.; Esteves, L.; Oliveira, C.; Marques, F.; Barroso, L.; Melo, J.B.; Carreira, I.M., 2018. Journal of Cancer. 1885 - 1895. 11. 9. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85046696007&partnerID=MN8TOARS . 10.7150/jca.23239 . Journal of Cancer

Molecular approaches identify a cryptic MECOM rearrangement in a child with a rapidly progressive myeloid neoplasm

Capela de Matos, R.R.; Othman, M.A.K.; Ferreira, G.M.; Costa, E.S.; Melo, J.B.; Carreira, I.M.; de Souza, M.T.; et al, 2018. Cancer Genetics. 25 - 30. 221. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85044861612&partnerID=MN8TOARS . 10.1016/j.cancergen.2017.12.002 . Cancer Genetics

Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration

Pars, S.; Cristo, F.; Inácio, J.M.; Rosas, G.; Carreira, I.M.; Melo, J.B.; Mendes, P.; et al, 2018. Stem Cell Research. 202 - 206. 29. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85046774686&partnerID=MN8TOARS . 10.1016/j.scr.2018.04.015 . Stem Cell Research

Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration

Pars, Selin; Cristo, Fernando; Inácio, José M; Rosas, Graça; Carreira, Isabel Marques; Melo, Joana Barbosa; Mendes, Patrícia; et al, 2018. 2018. http://hdl.handle.net/10362/37756 . https://doi.org/10.1016/j.scr.2018.04.015 .

Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

Cristo, F.; Inácio, J.M.; Rosas, G.; Carreira, I.M.; Melo, J.B.; de Almeida, L.P.; Mendes, P.; et al, 2017. Stem Cell Research. 152 - 156. 25. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85033403571&partnerID=MN8TOARS . 10.1016/j.scr.2017.10.019 . Stem Cell Research

MLPA analysis in a cohort of patients with autism

Peixoto, S.; Melo, J.B.; Ferrão, J.; Pires, L.M.; Lavoura, N.; Pinto, M.; Oliveira, G.; Carreira, I.M., 2017. Molecular Cytogenetics. 1. 10. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85011661275&partnerID=MN8TOARS . 10.1186/s13039-017-0302-z . Molecular Cytogenetics

Genomic profile of oral squamous cell carcinomas with an adjacent leukoplakia or with an erythroleukoplakia that evolved after the treatment of primary tumor: A report of two cases

Ribeiro, I.P.; Marques, F.; Barroso, L.; Rodrigues, J.; Caramelo, F.; Melo, J.B.; Carreira, I.M., 2017. Molecular Medicine Reports. 6780 - 6786. 5. 16. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85030097392&partnerID=MN8TOARS . 10.3892/mmr.2017.7428 . Molecular Medicine Reports

Iodine deficiency a persisting problem: assessment of iodine nutrition and evaluation of thyroid nodular pathology in Portugal

Santos, J.E.C.; Freitas, M.; Fonseca, C.P.; Castilho, P.; Carreira, I.M.; Rombeau, J.L.; Branco, M.C.; Carreira, Isabel, 2017. Journal of Endocrinological Investigation. 185 - 191. 2. 40. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85010878119&partnerID=MN8TOARS . 10.1007/s40618-016-0545-2 . Journal of Endocrinological Investigation

Genomic and epigenetic characterization for the comparison of synchronous bilateral tongue squamous cell carcinomas—A case report

Ribeiro, I.P.; Barroso, L.; Marques, F.; Santos, A.; Caramelo, F.; Julião, M.J.; Melo, J.B.; Carreira, I.M., 2017. Current Problems in Cancer. 398 - 406. 6. 41. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85031712645&partnerID=MN8TOARS . 10.1016/j.currproblcancer.2017.10.001 . Current Problems in Cancer

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Carreira, Isabel; Liehr, T.; Carreira, I.M.; Aktas, D.; Bakker, E.; Rodríguez De Alba, M.; Coviello, D.A.; et al, 2017. European Journal of Human Genetics.. 515 - 519. 5. 25. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85014599838&partnerID=MN8TOARS . doi:10.1038/ejhg.2017.25 . European Journal of Human Genetics.

Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor.

Carreira, Isabel; Ribeiro, I.P.; Marques, F.; Barroso, L.; Miguéis, J.; Caramelo, F.; Santos, A.; et al, 2017. Molecular Cytogenetics. 1. 10. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85018472234&partnerID=MN8TOARS . DOI: 10.1186/s13039-017-0310-z . Molecular Cytogenetics

Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

Cristo, Fernando; Inácio, José M.; Rosas, Graça; Carreira, Isabel Marques; Melo, Joana Barbosa; de Almeida, Luís Pereira; Mendes, Patrícia; et al, 2017. 2017. http://www.scopus.com/inward/record.url?scp=85033403571&partnerID=8YFLogxK . https://doi.org/10.1016/j.scr.2017.10.019 .

Copy number variations in chromosome 16p13.11-the neurodevelopmental clinical spectrum

Loureiro, S.; Almeida, J.; Café, C.; Conceição, I.; Mouga, S.; Beleza, A.; Oliveira, B.; et al, 2017. Current Pediatric Research. 116 - 129. 1. 21. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85018748026&partnerID=MN8TOARS . Current Pediatric Research

Human plasma metabolomics in age-related macular degeneration (AMD) using nuclear magnetic resonance spectroscopy

Laíns, I.; Duarte, D.; Barros, A.S.; Martins, A.S.; Gil, J.; Miller, J.B.; Marques, M.; et al, 2017. PLoS ONE. 5. 12. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85019356183&partnerID=MN8TOARS . 10.1371/journal.pone.0177749 . PLoS ONE

Genomic predictive model for recurrence and metastasis development in head and neck squamous cell carcinoma patients

Ribeiro, I.P.; Caramelo, F.; Esteves, L.; Menoita, J.; Marques, F.; Barroso, L.; Miguéis, J.; Melo, J.B.; Carreira, I.M., 2017. Scientific Reports. 1. 7. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85032211504&partnerID=MN8TOARS . 10.1038/s41598-017-14377-x . Scientific Reports

Effects of resistance exercise on endothelial progenitor cell mobilization in women

Ribeiro, F.; Ribeiro, I.P.; Gonçalves, A.C.; Alves, A.J.; Melo, E.; Fernandes, R.; Costa, R.; et al, 2017. Scientific Reports. 1. 7. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85038629743&partnerID=MN8TOARS . 10.1038/s41598-017-18156-6 . Scientific Reports

Metabolic profiling of maternal urine can aid clinical management of gestational diabetes mellitus

Pinto, J.; Diaz, S.O.; Aguiar, E.; Duarte, D.; Barros, A.S.; Galhano, E.; Pita, C.; et al, 2016. Metabolomics. 6. 12. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84969963458&partnerID=MN8TOARS . 10.1007/s11306-016-1046-1 . Metabolomics

Early detection and personalized treatment in oral cancer: the impact of omics approaches

Ribeiro, I.P.; Barroso, L.; Marques, F.; Melo, J.B.; Carreira, I.M., 2016. Molecular Cytogenetics. 1 - 7. 1. 9. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84996956389&partnerID=MN8TOARS . 10.1186/s13039-016-0293-1 . Molecular Cytogenetics

Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study

Diaz, S.O.; Pinto, J.; Barros, A.S.; Morais, E.; Duarte, D.; Negrao, F.; Pita, C.; et al, 2016. Journal of Proteome Research. 311 - 325. 1. 15. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84953212342&partnerID=MN8TOARS . 10.1021/acs.jproteome.5b00977 . Journal of Proteome Research

CITOGENÉTICA DE PRÓXIMA GERAÇÃO: IMPLEMENTAÇÃO E PRIMEIROS RESULTADOS EM PORTUGAL

David, Dezso; Oliva-Teles, Natália; Freixo, J; Fortuna, Ana; Tkachenko, Natalyia; Carvalho, Isabel; Marques, M; et al, 2016. 2016. https://revistas.rcaap.pt/nascercrescer/article/view/10542 .

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment

Onofre, I.; Mendonça, N.; Lopes, S.; Nobre, R.; De Melo, J.B.; Carreira, I.M.; Januário, C.; Gonçalves, A.F.; De Almeida, L.P., 2016. Scientific Reports. 6. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84975709020&partnerID=MN8TOARS . 10.1038/srep28220 . Scientific Reports

BIRC3 alterations in chronic and B-cell acute lymphocytic leukemia patients.

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A novel IGH@ gene rearrangement associated with CDKN2A/B deletion in young adult B-cell acute lymphoblastic leukemia

Othman, M.A.K.; Grygalewicz, B.; Pienkowska-Grela, B.; Rygier, J.; Ejduk, A.; Rincic, M.; Melo, J.B.; et al, 2016. Oncology Letters. 2117 - 2122. 3. 11. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84958073766&partnerID=MN8TOARS . 10.3892/ol.2016.4169 . Oncology Letters

WT1, MSH6, GATA5 and PAX5 as epigenetic oral squamous cell carcinoma biomarkers - a short report

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Metabolic profiling of maternal urine can aid clinical management of gestational diabetes mellitus

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Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: The possible role for UBA2 gene

Melo, J.B.; Estevinho, A.; Saraiva, J.; Ramos, L.; Carreira, I.M., 2015. Molecular Cytogenetics. 1. 8. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84927942449&partnerID=MN8TOARS . 10.1186/s13039-015-0123-x . Molecular Cytogenetics

Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients

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Senescent bronchial fibroblasts induced to senescence by Cr(VI) promote epithelial-mesenchymal transition when co-cultured with bronchial epithelial cells in the presence of Cr(VI)

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Impact of fetal chromosomal disorders on maternal blood metabolome: toward new biomarkers?

Pinto, Joana; Almeida, Lara Monteiro; Martins, Ana Sofia; Duarte, Daniela; Marques Domingues, Maria Rosario; Barros, Antonio Sousa; Galhano, Eulalia; et al, 2015. 2015. http://hdl.handle.net/10773/19722 . 10.1016/j.ajog.2015.07.032 .

NMR metabolomics of human lung tumours reveals distinct metabolic signatures for adenocarcinoma and squamous cell carcinoma

Rocha, C.M.; Barros, A.S.; Goodfellow, B.J.; Carreira, I.M.; Gomes, A.; Sousa, V.; Bernardo, J.; et al, 2015. Carcinogenesis. 68 - 75. 1. 36. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84925029341&partnerID=MN8TOARS . 10.1093/carcin/bgu226 . Carcinogenesis

Iodine deficiency and thyroid nodular pathology - Epidemiological and cancer characteristics in different populations: Portugal and South Africa

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Isochromosome 17q in Chronic Lymphocytic Leukemia

Alhourani, E.; Rincic, M.; Melo, J.B.; Carreira, I.M.; Glaser, A.; Pohle, B.; Schlie, C.; Liehr, T., 2015. Leukemia Research and Treatment. 2015. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-85029598779&partnerID=MN8TOARS . 10.1155/2015/489592 . Leukemia Research and Treatment

Novel Cryptic Rearrangements in Adult B-Cell Precursor Acute Lymphoblastic Leukemia Involving the MLL Gene

Othman, M.A.K.; Grygalewicz, B.; Pienkowska-Grela, B.; Rincic, M.; Rittscher, K.; Melo, J.B.; Carreira, I.M.; et al, 2015. Journal of Histochemistry and Cytochemistry. 384 - 390. 5. 63. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84930684969&partnerID=MN8TOARS . 10.1369/0022155415576201 . Journal of Histochemistry and Cytochemistry

Prediction of gestational diabetes through NMR metabolomics of maternal blood

Pinto, J.; Almeida, L.M.; Martins, A.S.; Duarte, D.; Barros, A.S.; Galhano, E.; Pita, C.; et al, 2015. Journal of Proteome Research. 2696 - 2706. 6. 14. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84930608529&partnerID=MN8TOARS . 10.1021/acs.jproteome.5b00260 . Journal of Proteome Research

Drug transporters play a key role in the complex process of Imatinib resistance in vitro

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Following healthy pregnancy by NMR metabolomics of plasma and correlation to urine

Pinto, J.; Barros, A.S.; Domingues, M.R.M.; Goodfellow, B.J.; Galhano, E.; Pita, C.; Almeida, M.D.C.; Carreira, I.M.; Gil, A.M., 2015. Journal of Proteome Research. 1263 - 1274. 2. 14. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84922607627&partnerID=MN8TOARS . 10.1021/pr5011982 . Journal of Proteome Research

High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia

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NMR metabolomics of human lung tumours reveals distinct metabolic signatures for adenocarcinoma and squamous cell carcinoma

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Impact of fetal chromosomal disorders on maternal blood metabolome: Toward new biomarkers?

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Following Healthy Pregnancy by NMR Metabolomics of Plasma and Correlation to Urine

Pinto, Joana; Barros, Antonio S.; Domingues, Maria Rosario M.; Goodfellow, Brian J.; Galhano, Eulalia; Pita, Cristina; Almeida, Maria do Ceu; et al, 2015. 2015. http://hdl.handle.net/10773/19970 . 10.1021/pr5011982 .

Copy number variants prioritization after array-CGH analysis - A cohort of 1000 patients

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A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: A reporto of two cases

Carreira, Isabel; Vaz, S.O.; Pires, R.; Pires, L.M.; Carreira, I.M.; Anjos, R.; Maciel, P.; Mota-Vieira, L., 2015. BMC Pediatrics. 1. 15. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84939535085&partnerID=MN8TOARS . DOI 10.1186/s12887-015-0417-5. 2015 . BMC Pediatrics

12q21.2q22 deletion: A new patient

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Prediction of Gestational Diabetes through NMR Metabolomics of Maternal Blood

Pinto, Joana; Almeida, Lara M.; Martins, Ana S.; Duarte, Daniela; Barros, Antonio S.; Gahano, Eulalia; Pita, Cristina; et al, 2015. 2015. http://hdl.handle.net/10773/20560 . 10.1021/acs.jproteome.5b00260 .

Human plasma stability during handling and storage: impact on NMR metabolomics

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Human plasma stability during handling and storage: Impact on NMR metabolomics

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Genetic gains and losses in oral squamous cell carcinoma: Impact on clinical management

Ribeiro, I.P.; Marques, F.; Caramelo, F.; Pereira, J.; Patrício, M.; Prazeres, H.; Ferrão, J.; et al, 2014. Cellular Oncology. 29 - 39. 1. 37. 2014. http://www.scopus.com/inward/record.url?eid=2-s2.0-84894415658&partnerID=MN8TOARS . 10.1007/s13402-013-0161-5 . Cellular Oncology

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes

Rasmussen, M.B.; Nielsen, J.V.; Lourenc¸o, C.M.; Melo, J.B.; Halgren, C.; Geraldi, C.V.L.; Marques, W.; et al, 2014. Journal of Medical Genetics. 605 - 613. 9. 51. 2014. http://www.scopus.com/inward/record.url?eid=2-s2.0-84907073181&partnerID=MN8TOARS . 10.1136/jmedgenet-2014-102535 . Journal of Medical Genetics

Genetic imbalances detected by multiplex ligation-dependent probe amplification in a cohort of patients with oral squamous cell carcinoma - The first step towards clinical personalized medicine

Ribeiro, I.P.; Marques, F.; Caramelo, F.; Ferrão, J.; Prazeres, H.; Julião, M.J.; Rifi, W.; et al, 2014. Tumor Biology. 4687 - 4695. 5. 35. 2014. http://www.scopus.com/inward/record.url?eid=2-s2.0-84902952957&partnerID=MN8TOARS . 10.1007/s13277-014-1614-9 . Tumor Biology

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

Pires, R.; Pires, L.M.; Vaz, S.O.; Maciel, P.; Anjos, R.; Moniz, R.; Branco, C.C.; et al, 2014. BMC Genetics. 2014. http://www.scopus.com/inward/record.url?eid=2-s2.0-84920848447&partnerID=MN8TOARS . 10.1186/s12863-014-0115-6 . BMC Genetics

Genomic characterization of three urinary bladder cancer cell lines: Understanding genomic types of urinary bladder cancer

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Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth

Matoso, E.; Ramos, F.; Ferrão, J.; Pires, L.M.; Mascarenhas, A.; Melo, J.B.; Carreira, I.M., 2014. Molecular Cytogenetics. 1. 7. 2014. http://www.scopus.com/inward/record.url?eid=2-s2.0-84989225480&partnerID=MN8TOARS . 10.1186/s13039-014-0087-2 . Molecular Cytogenetics

Maternal plasma phospholipids are altered in trisomy 21 cases and prior to preeclampsia and preterm outcomes

Pinto, J.; MacIel, E.; Melo, T.S.; Domingues, M.R.M.; Galhano, E.; Pita, C.; Almeida, M.D.C.; Carreira, I.M.; Gil, A.M., 2014. Rapid Communications in Mass Spectrometry. 1635 - 1638. 14. 28. 2014. http://www.scopus.com/inward/record.url?eid=2-s2.0-84901941350&partnerID=MN8TOARS . 10.1002/rcm.6941 . Rapid Communications in Mass Spectrometry

Patologia do neurodesenvolvimento por anomalia cromossómica da região crítica do cromossoma 15 (q11-q13) - relação genótipo-fenótipo

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Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the Sao Miguel Island, Azores, revealed the second patient with a triplication

Pires, Renato; Pires, Luís M.; Vaz, Sara O.; Maciel, Paula; Anjos, Rui; Moniz, Raquel; Branco, Claudia C.; et al, 2014. 2014. http://hdl.handle.net/10316/27591 .

Maternal plasma phospholipids are altered in trisomy 21 cases and prior to preeclampsia and preterm outcomes

Pinto, Joana; Maciel, Elisabete; Melo, TYnia S.; Domingues, M. Rosario M.; Galhano, Eulalia; Pita, Cristina; Almeida, Maria do Ceu; Carreira, Isabel M.; Gil, Ana M., 2014. 2014. http://hdl.handle.net/10773/19579 . 10.1002/rcm.6941 .

A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia

Othman, Moneeb A. K.; Rincic, Martina; Melo, Joana B.; Carreira, Isabel M.; Alhourani, Eyad; Hunstig, Friederike; Glaser, Anita; Liehr, Thomas, 2014. 2014. http://hdl.handle.net/10316/27654 .

Second Trimester Maternal Urine for the Diagnosis of Trisomy 21 and Prediction of Poor Pregnancy Outcomes

Diaz, Silvia O.; Barros, Antonio S.; Goodfellow, Brian J.; Duarte, Iola F.; Galhano, Eulalia; Pita, Cristina; Almeida, Maria do Ceu; Carreira, Isabel M.; Gil, Ana M., 2013. 2013. http://hdl.handle.net/10773/20015 . 10.1021/pr4002355 .

Following Healthy Pregnancy by Nuclear Magnetic Resonance (NMR) Metabolic Profiling of Human Urine

Diaz, Silvia O.; Barros, Antonio S.; Goodfellow, Brian J.; Duarte, Iola F.; Carreira, Isabel M.; Galhano, Eulalia; Pita, Cristina; Almeida, Maria do Ceu; Gil, Ana M., 2013. 2013. http://hdl.handle.net/10773/19338 . 10.1021/pr301022e .

Mid-infrared (MIR) metabolic fingerprinting of amniotic fluid: A possible avenue for early diagnosis of prenatal disorders?

Graca, Goncalo; Moreira, Ana Sofia; Correia, Ana Joao V.; Goodfellow, Brian J.; Barros, Antonio S.; Duarte, Iola F.; Carreira, Isabel M.; et al, 2013. 2013. http://hdl.handle.net/10773/19706 . 10.1016/j.aca.2012.12.023 .

Second trimester maternal urine for the diagnosis of trisomy 21 and prediction of poor pregnancy outcomes

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Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder

Matoso, E.; Melo, J.B.; Ferreira, S.I.; Jardim, A.; Castelo, T.M.; Weise, A.; Carreira, I.M., 2013. American Journal of Medical Genetics, Part A. 1923 - 1928. 8. 161. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84880727115&partnerID=MN8TOARS . 10.1002/ajmg.a.36032 . American Journal of Medical Genetics, Part A

Following healthy pregnancy by nuclear magnetic resonance (NMR) metabolic profiling of human urine

Diaz, S.O.; Barros, A.S.; Goodfellow, B.J.; Duarte, I.F.; Carreira, I.M.; Galhano, E.; Pita, C.; Almeida, M.D.C.; Gil, A.M., 2013. Journal of Proteome Research. 969 - 979. 2. 12. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84873370758&partnerID=MN8TOARS . 10.1021/pr301022e . Journal of Proteome Research

ß thalassemia major due to acquired uniparental disomy in a previously healthy adolescent

Bento, C.; Maia, T.M.; Milosevic, J.D.; Carreira, I.M.; Kralovics, R.; Leticia Ribeiro, M., 2013. Haematologica. 1. 98. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84872088267&partnerID=MN8TOARS . 10.3324/haematol.2012.064097 . Haematologica

Potential markers of cisplatin treatment response unveiled by NMR metabolomics of human lung cells

Duarte, I.F.; Ladeirinha, A.F.; Lamego, I.; Gil, A.M.; Carvalho, L.; Carreira, I.M.; Melo, J.B., 2013. Molecular Pharmaceutics. 4242 - 4251. 11. 10. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84887331225&partnerID=MN8TOARS . 10.1021/mp400335k . Molecular Pharmaceutics

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event

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Mid-infrared (MIR) metabolic fingerprinting of amniotic fluid: A possible avenue for early diagnosis of prenatal disorders?

Graça, G.; Moreira, A.S.; Correia, A.J.V.; Goodfellow, B.J.; Barros, A.S.; Duarte, I.F.; Carreira, I.M.; et al, 2013. Analytica Chimica Acta. 24 - 31. 764. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84873083203&partnerID=MN8TOARS . 10.1016/j.aca.2012.12.023 . Analytica Chimica Acta

Inv21p12q22del21q22 and intellectual disability

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Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism

Beleza-Meireles, A.; Matoso, E.; Ramos, L.; Melo, J.B.; Carreira, I.M.; Silva, E.D.; Saraiva, J.M., 2013. American Journal of Medical Genetics, Part A. 589 - 593. 3. 161. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84874195212&partnerID=MN8TOARS . 10.1002/ajmg.a.35713 . American Journal of Medical Genetics, Part A

High resolution melting : improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

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Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing

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Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

Ferreira, S.I.; Matoso, E.; Venncio, M.; Saraiva, J.; Melo, J.B.; Carreira, I.M., 2012. Molecular Cytogenetics. 1. 5. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84862182468&partnerID=MN8TOARS . 10.1186/1755-8166-5-25 . Molecular Cytogenetics

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Canavarro, Ana; Santos, Leonor; Boavida, Ana; Oliveira, Hélia; Menezes, Luis; Carreira, Susana, 2012. 2012. http://hdl.handle.net/10174/7935 .

Can biofluids metabolic profiling help to improve healthcare during pregnancy?

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High resolution melting: Improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

Santos, S.; Marques, V.; Pires, M.; Silveira, L.; Oliveira, H.; Lança, V.; Brito, D.; et al, 2012. BMC Medical Genetics. 13. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84858303406&partnerID=MN8TOARS . 10.1186/1471-2350-13-17 . BMC Medical Genetics

UPLC-MS metabolic profiling of second trimester amniotic fluid and maternal urine and comparison with NMR spectral profiling for the identification of pregnancy disorder biomarkers

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Metabolic Signatures of Lung Cancer in Biofluids: NMR-Based Metabonomics of Blood Plasma

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Metabolic Biomarkers of Prenatal Disorders: An Exploratory NMR Metabonomics Study of Second Trimester Maternal Urine and Blood Plasma

Diaz, Silvia O.; Pinto, Joana; Graca, Goncalo; Duarte, Iola F.; Barros, Antonio S.; Galhano, Eulalia; Pita, Cristina; et al, 2011. 2011. http://hdl.handle.net/10773/5058 .

Metabolic signatures of lung cancer in biofluids: NMR-based metabonomics of urine

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Metabolic signatures of lung cancer in biofluids: NMR-based metabonomics of blood plasma

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Chromosome 5 derived small supernumerary marker: Towards a genotype/phenotype correlation of proximal chromosome 5 imbalances

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Metabolic biomarkers of prenatal disorders: An exploratory NMR metabonomics study of second trimester maternal urine and blood plasma

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Late-onset hyperpigmentation: A case with multi-systemic involvement and recombinant X chromosome

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Risk factors for bronchopulmonary dysplasia in five Portuguese neonatal intensive care units

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Identification of a 0.4 Kb deletion region in 10q26 associated with endometrial carcinoma

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Identification of a 0.4 Kb deletion region in 10q26 associated with endometrial carcinoma

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Impact of prenatal disorders on the metabolic profile of second trimester amniotic fluid: A nuclear magnetic resonance metabonomic study

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X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

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Can nuclear magnetic resonance (NMR) spectroscopy reveal different metabolic signatures for lung tumours?

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Metabolic profiling of human lung cancer tissue by¹H high resolution magic angle spinning (HRMAS) NMR spectroscopy

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Familial mutation screening and gene expression evaluation in hypertrophic cardiomyopathy profiling

Santos, Susana; Cavaco, Diogo; Adragao, Pedro; Sa, Isabel; Carreira, Isabel; Antunes, Manuel; Cardim, Nuno; Monteiro, Carolino, 2009. 2009. http://hdl.handle.net/10451/21030 .

Analytical Approaches toward Successful Human Cell Metabolome Studies by NMR Spectroscopy

Duarte, Iola F.; Marques, Joana; Ladeirinha, Ana F.; Rocha, Cláudia; Lamego, Inês; Calheiros, Rita; Silva, Tânia M.; et al, 2009. 2009. http://hdl.handle.net/10316/10540 .

¹H NMR based metabonomics of human amniotic fluid for the metabolic characterization of fetus malformations

Graça, G.; Duarte, I.F.; Barros, A.S.; Goodfellow, B.J.; Diaz, S.; Carreira, I.M.; Couceiro, A.B.; Galhano, E.; Gil, A.M., 2009. Journal of Proteome Research. 4144 - 4150. 8. 8. 2009. http://www.scopus.com/inward/record.url?eid=2-s2.0-68549106304&partnerID=MN8TOARS . 10.1021/pr900386f . Journal of Proteome Research

Analytical approaches toward successful human cell metabolome studies by NMR spectroscopy

Duarte, I.F.; Marques, J.; Ladeirinha, A.F.; Rocha, C.; Lamego, I.; Calheiros, R.; Silva, T.M.; et al, 2009. Analytical Chemistry. 5023 - 5032. 12. 81. 2009. http://www.scopus.com/inward/record.url?eid=2-s2.0-67249083144&partnerID=MN8TOARS . 10.1021/ac900545q . Analytical Chemistry

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 ¿ qter) detected in an autistic boy

Carreira, I.M.; Melo, J.B.; Rodrigues, C.; Backx, L.; Vermeesch, J.; Weise, A.; Kosyakova, N.; Oliveira, G.; Matoso, E., 2009. Molecular Cytogenetics. 1. 2. 2009. http://www.scopus.com/inward/record.url?eid=2-s2.0-69549096133&partnerID=MN8TOARS . 10.1186/1755-8166-2-16 . Molecular Cytogenetics

Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: Towards a genotype/phenotype correlation

Melo, J.B.; Matoso, E.; Polityko, A.; Saraiva, J.; Backx, L.; Vermeesch, J.R.; Kosyakova, N.; et al, 2009. Cytogenetic and Genome Research. 109 - 114. 2. 125. 2009. http://www.scopus.com/inward/record.url?eid=2-s2.0-70249089729&partnerID=MN8TOARS . 10.1159/000227834 . Cytogenetic and Genome Research

Human bronchial epithelial cells malignantly transformed by hexavalent chromium exhibit an aneuploid phenotype but no microsatellite instability

Rodrigues, C.F.D.; Urbano, A.M.; Matoso, E.; Carreira, I.; Almeida, A.; Santos, P.; Botelho, F.; et al, 2009. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. 42 - 52. 1-2. 670. 2009. http://www.scopus.com/inward/record.url?eid=2-s2.0-70350003590&partnerID=MN8TOARS . 10.1016/j.mrfmmm.2009.07.004 . Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Metabolite Profiling of Human Amniotic Fluid by Hyphenated Nuclear Magnetic Resonance Spectroscopy

Graça, Gonçalo; Duarte, Iola F.; Goodfellow, Brian J.; Carreira, Isabel M.; Couceiro, Ana Bela; Domingues, Maria do Rosário; Spraul, Manfred; Tseng, Li-Hong; Gil, Ana M., 2008. 2008. http://hdl.handle.net/10316/10562 .

Tetra-amelia and lung hypo/aplasia syndrome: New case report and review

Sousa, Sérgio B.; Pina, Raquel; Ramos, Lina; Pereira, Naigel; Krahn, Martin; Borozdin, Wiktor; Kohlhase, Jürgen; et al, 2008. 2008. http://hdl.handle.net/10316/8440 .

Mowat - Wilson syndrome: An underdiagnosed syndrome?

Engenheiro, E.; Møller, R.S.; Pinto, M.; Soares, G.; Nikanorova, M.; Carreira, I.M.; Ullmann, R.; Tommerup, N.; Tümer, Z., 2008. Clinical Genetics. 579 - 584. 6. 73. 2008. http://www.scopus.com/inward/record.url?eid=2-s2.0-43449100930&partnerID=MN8TOARS . 10.1111/j.1399-0004.2008.00997.x . Clinical Genetics

First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q

Mascarenhas, A.; Matoso, E.; Saraiva, J.; Tönnies, H.; Gerlach, A.; Julião, M.J.; Melo, J.B.; Carreira, I.M., 2008. Cytogenetic and Genome Research. 293 - 297. 3-4. 121. 2008. http://www.scopus.com/inward/record.url?eid=2-s2.0-50849122046&partnerID=MN8TOARS . 10.1159/000138901 . Cytogenetic and Genome Research

Metabolite profiling of human amniotic fluid by hyphenated nuclear magnetic resonance spectroscopy

Graça, G.; Duarte, I.F.; Goodfellow, B.J.; Carreira, I.M.; Couceiro, A.B.; Domingues, M.D.R.; Spraul, M.; Tseng, L.-H.; Gil, A.M., 2008. Analytical Chemistry. 6085 - 6092. 15. 80. 2008. http://www.scopus.com/inward/record.url?eid=2-s2.0-49449087332&partnerID=MN8TOARS . 10.1021/ac800907f . Analytical Chemistry

Tetra-amelia and lung hypo/aplasia syndrome: New case report and review

Sousa, S.B.; Pina, R.; Ramos, L.; Pereira, N.; Krahn, M.; Borozdin, W.; Kohlhase, J.; et al, 2008. American Journal of Medical Genetics, Part A. 2799 - 2803. 21. 146. 2008. http://www.scopus.com/inward/record.url?eid=2-s2.0-55849123034&partnerID=MN8TOARS . 10.1002/ajmg.a.32489 . American Journal of Medical Genetics, Part A

Null mutations and lethal congenital form of glycogen storage disease type IV

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Potential of NMR spectroscopy for the study of human amniotic fluid

Graça, G.; Duarte, I.F.; Goodfellow, B.J.; Barros, A.S.; Carreira, I.M.; Couceiro, A.B.; Spraul, M.; Gil, A.M., 2007. Analytical Chemistry. 8367 - 8375. 21. 79. 2007. http://www.scopus.com/inward/record.url?eid=2-s2.0-35848947962&partnerID=MN8TOARS . 10.1021/ac071278d . Analytical Chemistry

Two new cases of de novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis [1]

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Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18

Carreira, I.M.; Mascarenhas, A.; Matoso, E.; Couceiro, A.B.; Ramos, L.; Dufke, A.; Mazauric, M.; et al, 2007. Journal of Histochemistry and Cytochemistry. 1123 - 1128. 11. 55. 2007. http://www.scopus.com/inward/record.url?eid=2-s2.0-35549002130&partnerID=MN8TOARS . 10.1369/jhc.7A7244.2007 . Journal of Histochemistry and Cytochemistry

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

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Comparison of three different definitions for the metabolic syndrome in non-diabetic Europeans

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Mitochondrial DNA variants in a Portuguese population of patients with Alzheimer's disease

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Partial tetrasomy of chromosome 3q and mosaicism in a child with autism

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Partial Tetrasomy of Chromosome 3q and Mosaicism in a Child with Autism

Oliveira, Guiomar; Matoso, Eunice; Vicente, Astrid; Ribeiro, Patricia; Marques, Carla; Ataíde, Assunção; Miguel, Teresa; Saraiva, Jorge; Carreira, Isabel, 2003. 2003. http://hdl.handle.net/10316/8492 .

Portugal: The practice of medical genetics in Portugal

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Issues in human GenEthics

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Craniosynostosis and chromosome 22q11 deletion (multiple letters) [1]

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Trisomy 8 mosaicism: A further five cases illustrating marked clinical and cytogenetic variability

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Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.

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Novel mutations and polymorphisms in the Fanconi anemia group C gene

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