Isabel Carreira

Small supernumerary marker chromosomes derived from human chromosome 11

Liehr, T.; Ziegler, M.; Person, L.; Kankel, S.; Padutsch, N.; Weise, A.; Weimer, J.P.; et al, Frontiers in Genetics. 14. 2023. http://www.scopus.com/inward/record.url?eid=2-s2.0-85181238274&partnerID=MN8TOARS . 10.3389/fgene.2023.1293652 . Frontiers in Genetics

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, 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

Small supernumerary marker chromosomes derived from human chromosome 11

Liehr, Thomas; Ziegler, Monika; Person, Luisa; Kankel, Stefanie; Padutsch, Niklas; Weise, Anja; Weimer, Jörg Paul; et al, Frontiers in Genetics. 14. 2023. http://dx.doi.org/10.3389/fgene.2023.1293652 . 10.3389/fgene.2023.1293652 . Frontiers in Genetics

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., 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

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, 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

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

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

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, 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

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, 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, 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, International Journal of Molecular Sciences. 5. 23. 2022. http://dx.doi.org/10.3390/ijms23052567 . 10.3390/ijms23052567 . International Journal of Molecular Sciences

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, 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

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., 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

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, Oral Oncology. 124. 2022. http://dx.doi.org/10.1016/j.oraloncology.2021.105418 . 10.1016/j.oraloncology.2021.105418 . Oral Oncology

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, Ophthalmology Science. 1. 1. 2021. http://dx.doi.org/10.1016/j.xops.2021.100017 . 10.1016/j.xops.2021.100017 . Ophthalmology Science

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, 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

Liquid Biopsies: Applications for Cancer Diagnosis and Monitoring

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

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, Oncogene. 2021. https://doi.org/10.1038/s41388-021-01806-5 . 10.1038/s41388-021-01806-5 . Oncogene

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., 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

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, 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

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, 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

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, 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

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, Experimental Dermatology. 2020. http://dx.doi.org/10.1111/exd.14237 . 10.1111/exd.14237 . published Experimental Dermatology

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, Cancer Genomics - Proteomics. 259 - 269. 3. 17. 2020. http://dx.doi.org/10.21873/cgp.20186 . 10.21873/cgp.20186 . accepted Cancer Genomics - Proteomics

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, Scientific Reports. 1. 10. 2020. http://dx.doi.org/10.1038/s41598-020-71859-1 . 10.1038/s41598-020-71859-1 . Scientific Reports

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, Ocular Oncology and Pathology. 1 - 9. 2020. http://dx.doi.org/10.1159/000508517 . 10.1159/000508517 . Ocular Oncology and Pathology

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, 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. https://proa.ua.pt/index.php/jshd/article/view/19575 . 10.34624/jshd.v2i2.19575 .

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, Molecular Cytogenetics. 1. 13. 2020. http://dx.doi.org/10.1186/s13039-020-00512-3 . 10.1186/s13039-020-00512-3 . Molecular Cytogenetics

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, 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

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, Oncology Letters. 3459 - 3468. 2020. http://dx.doi.org/10.3892/ol.2020.11459 . 10.3892/ol.2020.11459 . published Oncology Letters

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, Oncology Letters. 2957 - 2962. 4. 19. 2020. http://dx.doi.org/10.3892/ol.2020.11387 . 10.3892/ol.2020.11387 . published Oncology Letters

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, Molecular Cytogenetics. 1. 13. 2020. http://dx.doi.org/10.1186/s13039-020-00499-x . 10.1186/s13039-020-00499-x . Molecular Cytogenetics

Molecular characterization of dilated cardiomyopathy,Caracterização molecular da miocardiopatia dilatada

Carreira, I.M., 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

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

(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., 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

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, 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., 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

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, 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

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., 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

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

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, 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

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, 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

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, 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

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., 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

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, 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 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., 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

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., 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

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., 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, 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, 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

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, 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

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., Scientific Reports. 6. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84975709020&partnerID=MN8TOARS . 10.1038/srep28220 . Scientific Reports

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., 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

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, 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

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, 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

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

Carreira, Isabel; Alhourani, E.; Othman, M.A.K.; Melo, J.B.; Carreira, I.M.; Grygalewicz, B.; Vujic, D.; et al, Oncology Letters . 3240 - 3246. 5. 11. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84976908704&partnerID=MN8TOARS . DOI: 10.3892/ol.2016.4388. . Oncology Letters

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

Ribeiro, I.P.; Caramelo, F.; Marques, F.; Domingues, A.; Mesquita, M.; Barroso, L.; Prazeres, H.; et al, Cellular Oncology. 573 - 582. 6. 39. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84982999540&partnerID=MN8TOARS . 10.1007/s13402-016-0293-5 . Cellular Oncology

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

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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

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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. http://hdl.handle.net/10316/27654 .

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

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

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

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

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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. http://hdl.handle.net/10773/5058 .

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

Rocha, Cláudia M.; Carrola, Joana; Barros, António S.; Gil, Ana M.; Goodfellow, Brian J.; Carreira, Isabel M.; Bernardo, Joao; et al, 2011. http://hdl.handle.net/10773/5056 .

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

Guimarães,Hercília; Rocha,Gustavo; Vasconcellos,Gabriela; Proença,Elisa; Carreira,Maria Luísa; Sossai,Maria do Rosário; Morais,Benvinda; et al, 2010. http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000300005 .

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

Duarte, I.F.; Rocha, C.M.; Barros, A.S.; Gil, A.M.; Goodfellow, B.J.; Carreira, I.M.; Bernardo, J.; et al, Virchows Archiv. 715 - 725. 6. 457. 2010. http://www.scopus.com/inward/record.url?eid=2-s2.0-78651293507&partnerID=MN8TOARS . 10.1007/s00428-010-0993-6 . Virchows Archiv

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

Rocha, C.M.; Barros, A.S.; Gil, A.M.; Goodfellow, B.J.; Humpfer, E.; Spraul, M.; Carreira, I.M.; et al, Journal of Proteome Research. 319 - 332. 1. 9. 2010. http://www.scopus.com/inward/record.url?eid=2-s2.0-73649147390&partnerID=MN8TOARS . 10.1021/pr9006574 . Journal of Proteome Research

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

Alves, M.; Carreira, I.; Liberato, P.; Ramos, S.; Mafra, M.; Inverno, A.S.; Maia, A.T.; et al, Oncology Reports. 519 - 522. 2. 23. 2010. http://www.scopus.com/inward/record.url?eid=2-s2.0-76649140161&partnerID=MN8TOARS . 10.3892/or-00000664 . Oncology Reports

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

Santiago, F.; Vieira, R.; Cordeiro, M.; Carreira, I.; Figueiredo, A., Journal of the European Academy of Dermatology and Venereology. 84 - 85. 1. 24. 2010. http://www.scopus.com/inward/record.url?eid=2-s2.0-71949097100&partnerID=MN8TOARS . 10.1111/j.1468-3083.2009.03288.x . Journal of the European Academy of Dermatology and Venereology

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

Ferreira, S.I.; Matoso, E.; Pinto, M.; Almeida, J.; Liehr, T.; Melo, J.B.; Carreira, I.M., Molecular Cytogenetics. 1. 3. 2010. http://www.scopus.com/inward/record.url?eid=2-s2.0-77954685093&partnerID=MN8TOARS . 10.1186/1755-8166-3-14 . Molecular Cytogenetics

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

Graça, G.; Duarte, I.F.; Barros, A.S.; Goodfellow, B.J.; Diaz, S.O.; Pinto, J.; Carreira, I.M.; et al, Journal of Proteome Research. 6016 - 6024. 11. 9. 2010. http://www.scopus.com/inward/record.url?eid=2-s2.0-78149389419&partnerID=MN8TOARS . 10.1021/pr100815q . Journal of Proteome Research

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

Alves, Margarida; Carreira, Isabel; Liberato, Paulo; Ramos, Sância; Mafra, Manuela; Inverno, Alexandra S.; Maia, Ana T.; et al, 2010. http://hdl.handle.net/10400.21/3070 .

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. 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. http://hdl.handle.net/10316/10540 .

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, 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

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., 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, 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., 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, 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

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., 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

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. http://hdl.handle.net/10316/10562 .

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., 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., 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, 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

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. http://hdl.handle.net/10316/8440 .

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, 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

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

Jardim, A.; Melo, J.B.; Matoso, E.; Pires, L.M.; Ramos, L.; Carreira, I.M., Prenatal Diagnosis. 380 - 381. 4. 27. 2007. http://www.scopus.com/inward/record.url?eid=2-s2.0-34247171671&partnerID=MN8TOARS . 10.1002/pd.1650 . Prenatal Diagnosis

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

Engenheiro, E.; Saraiva, J.; Carreira, I.; Ramos, L.; Ropers, H.H.; Silva, E.; Tommerup, N.; Tümer, Z., Clinical Genetics. 464 - 470. 5. 72. 2007. http://www.scopus.com/inward/record.url?eid=2-s2.0-35348879214&partnerID=MN8TOARS . 10.1111/j.1399-0004.2007.00879.x . Clinical Genetics

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., 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

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

Assereto, S.; van Diggelen, O.P.; Diogo, L.; Morava, E.; Cassandrini, D.; Carreira, I.; de Boode, W.-P.; et al, Biochemical and Biophysical Research Communications. 445 - 450. 2. 361. 2007. http://www.scopus.com/inward/record.url?eid=2-s2.0-34547515164&partnerID=MN8TOARS . 10.1016/j.bbrc.2007.07.074 . Biochemical and Biophysical Research Communications

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

Qiao, Q.; Toumilehto, J.; Jousilahti, P.; Lindström, J.; Bouter, L.M.; Dekker, J.M.; Heine, R.J.; et al, British Journal of Diabetes and Vascular Disease. 161 - 168. 3. 5. 2005. http://www.scopus.com/inward/record.url?eid=2-s2.0-21644437694&partnerID=MN8TOARS . British Journal of Diabetes and Vascular Disease

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

Grazina, M.; Silva, F.; Santana, I.; Pratas, J.; Santiago, B.; Oliveira, M.; Carreira, I.; Cunha, L.; Oliveira, C., European Neurology. 121 - 124. 3. 53. 2005. http://www.scopus.com/inward/record.url?eid=2-s2.0-20844462230&partnerID=MN8TOARS . 10.1159/000085555 . European Neurology

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. http://hdl.handle.net/10316/8492 .

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

Oliveira, G.; Matoso, E.; Vicente, A.; Ribeiro, P.; Marques, C.; Ataíde, A.; Miguel, T.; Saraiva, J.; Carreira, I., Journal of Autism and Developmental Disorders. 177 - 185. 2. 33. 2003. http://www.scopus.com/inward/record.url?eid=2-s2.0-0345382559&partnerID=MN8TOARS . 10.1023/A:1022943627660 . Journal of Autism and Developmental Disorders

Issues in human GenEthics

Saraiva, J.M.; Anionwu, E.; Belo, M.; Jenkins, T.; Kristoffersson, U.; Marques, I.; Santos, H.G.; et al, Genetics in Medicine. 218 - 219. 3. 3. 2001. http://www.scopus.com/inward/record.url?eid=2-s2.0-18544387785&partnerID=MN8TOARS . 10.1097/00125817-200105000-00013 . Genetics in Medicine

Portugal: The practice of medical genetics in Portugal

Saraiva, J.M.; Pinto, M.R.; Monteiro, C.; Marques, I.; Lima, M.R.; Medeira, A.; Rendeiro, P., Genetics in Medicine. 220 - 221. 3. 3. 2001. http://www.scopus.com/inward/record.url?eid=2-s2.0-0035746337&partnerID=MN8TOARS . Genetics in Medicine

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

Saraiva, J.M.; Matoso, E.; Marques, I., Journal of medical genetics. 347 - 348. 4. 35. 1998. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032044688&partnerID=MN8TOARS . Journal of medical genetics

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

Jordan, M.A.; Marques, I.; Rosendorff, J.; De Ravel, T.J.L., Genetic Counseling. 139 - 146. 2. 9. 1998. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031749674&partnerID=MN8TOARS . Genetic Counseling

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

Dean, J.C.S.; De Silva, D.C.; Reardon, W.; Di Rocco, M.; Buocompagni, A.; Picco, P.; Vignola, S.; et al, Journal of Medical Genetics. 346 - 348. 4. 35. 1998. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031957670&partnerID=MN8TOARS . Journal of Medical Genetics

Novel mutations and polymorphisms in the Fanconi anemia group C gene

Gibson, R.A.; Morgan, N.V.; Goldstein, L.H.; Pearson, I.C.; Kesterton, I.P.; Foot, N.J.; Jansen, S.; et al, Human Mutation. 140 - 148. 2. 8. 1996. http://www.scopus.com/inward/record.url?eid=2-s2.0-15844403607&partnerID=MN8TOARS . 10.1002/(SICI)1098-1004(1996)8:2<140::AID-HUMU6>3.0.CO;2-F . Human Mutation