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

od Melo, Joana B, Estevinho, Alexandra, Saraiva, Jorge, Ramos, Lina, Carreira, Isabel M
izdano v Mol Cytogenet (2015)

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

od Esteves, Luísa, Caramelo, Francisco, Ribeiro, Ilda Patrícia, Carreira, Isabel M., de Melo, Joana Barbosa
izdano v Sci Rep (2020)

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

od Bento, Celeste, Maia, Tabita M., Milosevic, Jelena D., Carreira, Isabel M., Kralovics, Robert, Ribeiro, M. Leticia
Izdano 2013

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

od Ferreira, Susana I, Matoso, Eunice, Pinto, Marta, Almeida, Joana, Liehr, Thomas, Melo, Joana B, Carreira, Isabel M
Izdano 2010

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

od Matoso, Eunice, Ramos, Fabiana, Ferrão, José, Pires, Luís M, Mascarenhas, Alexandra, Melo, Joana B, Carreira, Isabel M
izdano v Mol Cytogenet (2014)

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

od Ribeiro, Ilda P., Marques, Francisco, Barroso, Leonor, Rodrigues, Joana, Caramelo, Francisco, Melo, Joana B., Carreira, Isabel M.
izdano v Mol Med Rep (2017)

Metabolic responses of A549 lung cells to cisplatin and radiation exposure studied by (1)H NMR spectroscopy

od Ladeirinha, Ana F, Lamego, Inês D, Gil, Ana M, Melo, Joana B, Carreira, Isabel M, Duarte, Iola F
Izdano 2010

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 report of two cases

od Vaz, Sara O., Pires, Renato, Pires, Luís M., Carreira, Isabel M., Anjos, Rui, Maciel, Paula, Mota-Vieira, Luisa
izdano v BMC Pediatr (2015)

Isochromosome 17q in Chronic Lymphocytic Leukemia

od Alhourani, Eyad, Rincic, Martina, Melo, Joana B., Carreira, Isabel M., Glaser, Anita, Pohle, Beate, Schlie, Cordula, Liehr, Thomas
izdano v Leuk Res Treatment (2015)

MLPA analysis in a cohort of patients with autism

od Peixoto, Sara, Melo, Joana B., Ferrão, José, Pires, Luís M., Lavoura, Nuno, Pinto, Marta, Oliveira, Guiomar, Carreira, Isabel M.
izdano v Mol Cytogenet (2017)

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

od Carreira, Isabel M, Melo, Joana B, Rodrigues, Carlos, Backx, Liesbeth, Vermeesch, Joris, Weise, Anja, Kosyakova, Nadezda, Oliveira, Guiomar, Matoso, Eunice
Izdano 2009

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

od Othman, Moneeb A. K., Rincic, Martina, Melo, Joana B., Carreira, Isabel M., Alhourani, Eyad, Hunstig, Friederike, Glaser, Anita, Liehr, Thomas
Izdano 2014

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

od Ribeiro, Ilda P., Marques, Francisco, Barroso, Leonor, Miguéis, Jorge, Caramelo, Francisco, Santos, André, Julião, Maria J., Melo, Joana B., Carreira, Isabel M.
izdano v Mol Cytogenet (2017)

European registration process for Clinical Laboratory Geneticists in genetic healthcare

od Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina
izdano v Eur J Hum Genet (2017)

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

od Liehr, Thomas, Carreira, Isabel M., Balogh, Zsofia, Garrido, Elena Dominguez, Verdorfer, Irmgard, Coviello, Domenico A., Florentin, Lina, Scheffer, Hans, Rincic, Martina, Williams, Heather E.
izdano v Eur J Hum Genet (2019)

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

od Wafa, Abdulsamad, Jarjour, Rami A., Aljapawe, Abdulmunim, ALmedania, Suher, Liehr, Thomas, Melo, Joana B., Carreira, Isabel M., Othman, Moneeb A. K., Al-Achkar, Walid
izdano v Mol Cytogenet (2020)

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

od Wafa, Abdulsamad, Jarjour, Rami A., Alolabi, Doaa, Liehr, Thomas, Hamdan, Othman, Melo, Joana B., Carreira, Isabel M., Othman, Moneeb A. K., Al-Achkar, Walid
izdano v Mol Cytogenet (2020)

NMR metabonomic study of lung cancer: metabolic profiling of tissues

od Rocha, Cláudia M, Barros, António S, Gil, Ana M, Goodfellow, Brian J, Carreira, Isabel M, Bernardo, João, Gomes, Ana, Sousa, Vítor, Carvalho, Lina, Duarte, Iola F
Izdano 2010

Three Unusual but Cytogenetically Similar Cases With up to Five Different Cell Lines Involving Structural and Numerical Abnormalities of Chromosome 18

od Carreira, Isabel M., Mascarenhas, Alexandra, Matoso, Eunice, Couceiro, Ana B., Ramos, Lina, Dufke, Andreas, Mazauric, Marie, Stressig, Rüdiger, Kosyakova, Nadezda, Melo, Joana B., Liehr, Thomas
Izdano 2007

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

od Pires, Renato, Pires, Luís M, Vaz, Sara O, Maciel, Paula, Anjos, Rui, Moniz, Raquel, Branco, Claudia C, Cabral, Rita, Carreira, Isabel M, Mota-Vieira, Luisa
izdano v BMC Genet (2014)