CIBB

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

Chromosomal breakpoints in a cohort of head and neck squamous cell carcinoma patients.

Carreira, Isabel, 2020. 2020. . doi.org/10.1016/j.ygeno.2019.02.009 .

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

Molecular characterization of dilated cardiomyopathy

Carreira, Isabel, 2019. Revista Portuguesa de Cardiologia.. 2019. doi: 10.1016/j.repc.2019.02.002. . Revista Portuguesa de Cardiologia.

A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia.

Carreira, Isabel, 2019. Cytogenet Genome Res. 2019. doi: 10.1159/000499640 . Cytogenet Genome Res

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

Carreira, Isabel, 2019. European Journal of Human Genetics. 2019. doi.org/10.1038/s41431-019-0379-4 . European Journal of Human Genetics

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

Carreira, Isabel, 2019. Genes Genomics. 2019. doi: 10.1007/s13258-019-00850-6. . Genes Genomics

Cytogenetics and Cytogenomics Evaluation in Cancer

Carreira, Isabel, 2019. Int. J. Mol. Sci. . 2019. doi.org/10.3390/ijms20194711 . Int. J. Mol. Sci.

Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands.

Carreira, Isabel, 2019. Oncology Letters. . 2019. doi.org/10.3892/ol.2019.11198 . Oncology Letters.

Head and neck cancer: searching for biomarkers in body fluids – the state of art.

Carreira, Isabel, 2019. Mol Cytogenet. 2019. doi: 10.1186/s13039-019-0447-z . Mol Cytogenet

Cryptic NUP214-ABL1 fusion with complex karyotype, episomes and intra-tumor genetic heterogeneity in a T-cell lymphoblastic lymphoma.

Carreira, Isabel, 2018. J Cancer Metastasis Treat . 2018. doi: 10.20517/2394-4722.2018.41 . J Cancer Metastasis Treat

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.

Carreira, Isabel, 2018. Stem Cell Research 29:202-206. 2018 . 2018. doi.org/10.1016/j.scr.2018.04.015 . Stem Cell Research 29:202-206. 2018

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

Genomic and epigenetic characterization for the comparisson of synchronous bilateral tongue squamous cell carcinoma. Current Problems in cancer.

Carreira, Isabel, 2017. 2017. doi: 10.1016/j.currproblcancer.2017.10.001. .

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 profile of oral squamous cell carcinomas with an adjacent leukoplakia or with an erythroleukoplakia that evolved after treatment of primary tumour: a report of two new cases.

Carreira, Isabel, 2017. Molecular Medicine Reports.. 2017. doi: 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., 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

Newborn urinary metabolic signatures of prematurity and other disorders: a case control study.

Carreira, Isabel, 2016. J. Proteome Res . 2016. DOI:10.1021/acs.jproteome.5b00977 . J. Proteome Res

Early detection and personalized treatment in oral cancer: the impact of omics approaches. (2016) 9:85 (7 pages)

Carreira, Isabel, 2016. Molecular Cytogenetics. 2016. DOI 10.1186/s13039-016-0293-1 . Molecular Cytogenetics

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.

Carreira, Isabel; Alhourani, E.; Othman, M.A.K.; Melo, J.B.; Carreira, I.M.; Grygalewicz, B.; Vujic, D.; et al, 2016. 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

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

Ribeiro, I.P.; Caramelo, F.; Marques, F.; Domingues, A.; Mesquita, M.; Barroso, L.; Prazeres, H.; et al, 2016. 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

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

Pinto, Joana; Diaz, Silvia O.; Aguiar, Elisabete; Duarte, Daniela; Barros, Antonio S.; Galhano, Eulalia; Pita, Cristina; et al, 2016. 2016. http://hdl.handle.net/10773/19204 . 10.1007/s11306-016-1046-1 .

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

Beleza-Meireles, A.; Hart, R.; Clayton-Smith, J.; Oliveira, R.; Reis, C.F.; Venâncio, M.; Ramos, F.; et al, 2015. European Journal of Medical Genetics. 455 - 465. 9. 58. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84946720817&partnerID=MN8TOARS . 10.1016/j.ejmg.2015.07.003 . European Journal of Medical Genetics

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)

Val, M.M.; Mendes, L.A.; Alarcão, A.; Carvalho, L.; Carreira, I.; Rodrigues, C.F.D.; Alpoim, M.C., 2015. Mutagenesis. 277 - 286. 2. 30. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84935078540&partnerID=MN8TOARS . 10.1093/mutage/geu070 . Mutagenesis

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

Santos, J.E.C.; Kalk, W.J.; Freitas, M.; Marques Carreira, I.; Castelo Branco, M., 2015. BMC Research Notes. 1. 8. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84937010779&partnerID=MN8TOARS . 10.1186/s13104-015-1155-3 . BMC Research Notes

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

Alves, R.; Fonseca, A.R.; Gonçalves, A.C.; Ferreira-Teixeira, M.; Lima, J.; Abrantes, A.M.; Alves, V.; et al, 2015. Leukemia Research. 355 - 360. 3. 39. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84924035466&partnerID=MN8TOARS . 10.1016/j.leukres.2014.12.008 . Leukemia Research

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

Othman, M.A.K.; Melo, J.B.; Carreira, I.M.; Rincic, M.; Glaser, A.; Grygalewicz, B.; Gruhn, B.; et al, 2015. Molecular Cytogenetics. 1. 8. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84933528131&partnerID=MN8TOARS . 10.1186/s13039-015-0153-4 . Molecular Cytogenetics

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

Rocha, Claudia M; Barros, Antonio S; Goodfellow, Brian J; Carreira, Isabel M; Gomes, Ana; Sousa, Vitor; Bernardo, Joao; et al, 2015. 2015. http://hdl.handle.net/10773/17612 . 10.1093/carcin/bgu226 .

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

Pinto, J.; Almeida, L.M.; Martins, A.S.; Duarte, D.; Domingues, M.R.M.; Barros, A.S.; Galhano, E.; et al, 2015. American Journal of Obstetrics and Gynecology. 841.e1 - 841.e15. 6. 213. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84940831397&partnerID=MN8TOARS . 10.1016/j.ajog.2015.07.032 . American Journal of Obstetrics and Gynecology

Copy Number Variants Prioritization after array-CGH analysis - Portuguese experience from 1000 patients.

Carreira, Isabel, 2015. 2015. DOI 10.1186/s13039-015-0202. 2015. .

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

Carreira, I.M.; Ferreira, S.I.; Matoso, E.; Pires, L.M.; Ferrão, J.; Jardim, A.; Mascarenhas, A.; et al, 2015. Molecular Cytogenetics. 1. 8. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84952310337&partnerID=MN8TOARS . 10.1186/s13039-015-0202-z . Molecular Cytogenetics

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

Oliveira, R.; Pereira, C.; Melo, J.B.; Mesquita, S.; Venâncio, M.; Carreira, I.M.; Saraiva, J., 2015. American Journal of Medical Genetics, Part A. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84927144804&partnerID=MN8TOARS . 10.1002/ajmg.a.37077 . American Journal of Medical Genetics, Part A

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

Pinto, Joana; Domingues, M. Rosario M.; Galhano, Eulalia; Pita, Cristina; Almeida, Maria do Ceu; Carreira, Isabel M.; Gil, Ana M., 2014. 2014. http://hdl.handle.net/10773/20577 . 10.1039/c3an02188b .

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

Pinto, J.; Domingues, M.R.M.; Galhano, E.; Pita, C.; Almeida, M.D.C.; Carreira, I.M.; Gil, A.M., 2014. Analyst. 1168 - 1177. 5. 139. 2014. http://www.scopus.com/inward/record.url?eid=2-s2.0-84893302825&partnerID=MN8TOARS . 10.1039/c3an02188b . Analyst

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

Pinto-Leite, R.; Carreira, I.; Melo, J.; Ferreira, S.I.; Ribeiro, I.; Ferreira, J.; Filipe, M.; et al, 2014. Tumor Biology. 4599 - 4617. 5. 35. 2014. http://www.scopus.com/inward/record.url?eid=2-s2.0-84902964744&partnerID=MN8TOARS . 10.1007/s13277-013-1604-3 . Tumor Biology

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

Gomes, Sofia; Almeida, Joana; Ferrão, José; Matoso, Eunice; Carreira, Isabel Maria; Oliveira, Guiomar, 2014. 2014. https://pjp.spp.pt//article/view/4418 . 10.25754/pjp.2010.4418 .

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

Diaz, S.O.; Barros, A.S.; Goodfellow, B.J.; Duarte, I.F.; Galhano, E.; Pita, C.; Almeida, M.D.C.; Carreira, I.M.; Gil, A.M., 2013. Journal of Proteome Research. 2946 - 2957. 6. 12. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84879328712&partnerID=MN8TOARS . 10.1021/pr4002355 . Journal of Proteome Research

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

Ferreira, S.I.; Pires, L.M.; Ferrão, J.; Sá, J.; Serra, A.; Carreira, I.M., 2013. Gene. 421 - 425. 1. 527. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84881261141&partnerID=MN8TOARS . 10.1016/j.gene.2013.05.079 . Gene

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

Oliveira, R.; Dória, S.; Madureira, C.; Lima, V.; Almeida, C.; Pinho, M.J.; Ramalho, C.; et al, 2013. Gene. 120 - 124. 1. 517. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84873521858&partnerID=MN8TOARS . 10.1016/j.gene.2012.12.045 . Gene

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

Santos, Susana; Marques, Vanda; Pires, Marina; Silveira, Leonor; Oliveira, Helena; Lança, Vasco; Brito, Dulce; et al, 2012. 2012. http://hdl.handle.net/10451/34772 . 10.1186/1471-2350-13-17 .

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

Haga, SB; O'Daniel, JM; Tindall, GM; Mills, R; Lipkus, IM; Agans, R, 2012. Clinical Genetics. 115 - 120. 2. 82. 2012. http://dx.doi.org/10.1111/j.1399-0004.2012.01848.x . 10.1111/j.1399-0004.2012.01848.x . Clinical Genetics

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

PRÁTICAS DE ENSINO E DE AVALIAÇÃO DESENVOLVIDAS POR PROFESSORES NO CONTEXTO DA IMPLEMENTAÇÃO E GENERALIZAÇÃO DO PROGRAMA DE MATEMÁTICA DO ENSINO BÁSICO

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?

Graça, G.; Diaz, S.O.; Pinto, J.; Barros, A.S.; Duarte, I.F.; Goodfellow, B.J.; Galhano, E.; et al, 2012. Spectroscopy (New York). 515 - 523. 5-6. 27. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84866262958&partnerID=MN8TOARS . 10.1155/2012/128367 . Spectroscopy (New York)

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

Graa, G.; Goodfellow, B.J.; Barros, A.S.; Diaz, S.; Duarte, I.F.; Spagou, K.; Veselkov, K.; et al, 2012. Molecular BioSystems. 1243 - 1254. 4. 8. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84858064590&partnerID=MN8TOARS . 10.1039/c2mb05424h . Molecular BioSystems

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. 2011. http://hdl.handle.net/10773/5056 .

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

Carrola, J.; Rocha, C.M.; Barros, A.S.; Gil, A.M.; Goodfellow, B.J.; Carreira, I.M.; Bernardo, J.; et al, 2011. Journal of Proteome Research. 221 - 230. 1. 10. 2011. http://www.scopus.com/inward/record.url?eid=2-s2.0-79951518482&partnerID=MN8TOARS . 10.1021/pr100899x . Journal of Proteome Research

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

Rocha, C.M.; Carrola, J.; Barros, A.S.; Gil, A.M.; Goodfellow, B.J.; Carreira, I.M.; Bernardo, J.; et al, 2011. Journal of Proteome Research. 4314 - 4324. 9. 10. 2011. http://www.scopus.com/inward/record.url?eid=2-s2.0-80052451072&partnerID=MN8TOARS . 10.1021/pr200550p . Journal of Proteome Research

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

Melo, J.B.; Backx, L.; Vermeesch, J.R.; Santos, H.G.; Sousa, A.C.; Kosyakova, N.; Weise, A.; et al, 2011. Journal of Applied Genetics. 193 - 200. 2. 52. 2011. http://www.scopus.com/inward/record.url?eid=2-s2.0-79955822180&partnerID=MN8TOARS . 10.1007/s13353-011-0035-3 . Journal of Applied Genetics

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

Diaz, S.O.; Pinto, J.; Graça, G.; Duarte, I.F.; Barros, A.S.; Galhano, E.; Pita, C.; et al, 2011. Journal of Proteome Research. 3732 - 3742. 8. 10. 2011. http://www.scopus.com/inward/record.url?eid=2-s2.0-79961232054&partnerID=MN8TOARS . 10.1021/pr200352m . Journal of Proteome Research

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

Santiago, F.; Vieira, R.; Cordeiro, M.; Carreira, I.; Figueiredo, A., 2010. 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

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. 2010. http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000300005 .

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, 2010. 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

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. 2010. http://hdl.handle.net/10400.21/3070 .

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, 2010. 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

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., 2010. 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

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, 2010. 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 by<sup>1</sup>H 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, 2010. 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

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 .

<sup>1</sup>H 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

Assereto, S.; van Diggelen, O.P.; Diogo, L.; Morava, E.; Cassandrini, D.; Carreira, I.; de Boode, W.-P.; et al, 2007. 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

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]

Jardim, A.; Melo, J.B.; Matoso, E.; Pires, L.M.; Ramos, L.; Carreira, I.M., 2007. 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

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

Engenheiro, E.; Saraiva, J.; Carreira, I.; Ramos, L.; Ropers, H.H.; Silva, E.; Tommerup, N.; Tümer, Z., 2007. 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

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, 2005. 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., 2005. 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, G.; Matoso, E.; Vicente, A.; Ribeiro, P.; Marques, C.; Ataíde, A.; Miguel, T.; Saraiva, J.; Carreira, I., 2003. 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

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

Saraiva, J.M.; Pinto, M.R.; Monteiro, C.; Marques, I.; Lima, M.R.; Medeira, A.; Rendeiro, P., 2001. 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

Issues in human GenEthics

Saraiva, J.M.; Anionwu, E.; Belo, M.; Jenkins, T.; Kristoffersson, U.; Marques, I.; Santos, H.G.; et al, 2001. 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

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, 1998. 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

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., 1998. Genetic Counseling. 139 - 146. 2. 9. 1998. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031749674&partnerID=MN8TOARS . Genetic Counseling

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

Saraiva, J.M.; Matoso, E.; Marques, I., 1998. 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

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, 1996. 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

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