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

por Melo, Joana B, Estevinho, Alexandra, Saraiva, Jorge, Ramos, Lina, Carreira, Isabel M
Publicado 2015

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

por Esteves, Luísa, Caramelo, Francisco, Ribeiro, Ilda Patrícia, Carreira, Isabel M., de Melo, Joana Barbosa
Publicado 2020

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

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

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

por Matoso, Eunice, Ramos, Fabiana, Ferrão, José, Pires, Luís M, Mascarenhas, Alexandra, Melo, Joana B, Carreira, Isabel M
Publicado 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

por Ribeiro, Ilda P., Marques, Francisco, Barroso, Leonor, Rodrigues, Joana, Caramelo, Francisco, Melo, Joana B., Carreira, Isabel M.
Publicado 2017

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

por Ladeirinha, Ana F, Lamego, Inês D, Gil, Ana M, Melo, Joana B, Carreira, Isabel M, Duarte, Iola F
Publicado 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

por Vaz, Sara O., Pires, Renato, Pires, Luís M., Carreira, Isabel M., Anjos, Rui, Maciel, Paula, Mota-Vieira, Luisa
Publicado 2015

Isochromosome 17q in Chronic Lymphocytic Leukemia

por Alhourani, Eyad, Rincic, Martina, Melo, Joana B., Carreira, Isabel M., Glaser, Anita, Pohle, Beate, Schlie, Cordula, Liehr, Thomas
Publicado 2015

MLPA analysis in a cohort of patients with autism

por Peixoto, Sara, Melo, Joana B., Ferrão, José, Pires, Luís M., Lavoura, Nuno, Pinto, Marta, Oliveira, Guiomar, Carreira, Isabel M.
Publicado 2017

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

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

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

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

por Ribeiro, Ilda P., Marques, Francisco, Barroso, Leonor, Miguéis, Jorge, Caramelo, Francisco, Santos, André, Julião, Maria J., Melo, Joana B., Carreira, Isabel M.
Publicado 2017

European registration process for Clinical Laboratory Geneticists in genetic healthcare

por Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina
Publicado 2017

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

por Liehr, Thomas, Carreira, Isabel M., Balogh, Zsofia, Garrido, Elena Dominguez, Verdorfer, Irmgard, Coviello, Domenico A., Florentin, Lina, Scheffer, Hans, Rincic, Martina, Williams, Heather E.
Publicado 2019

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

por Wafa, Abdulsamad, Jarjour, Rami A., Aljapawe, Abdulmunim, ALmedania, Suher, Liehr, Thomas, Melo, Joana B., Carreira, Isabel M., Othman, Moneeb A. K., Al-Achkar, Walid
Publicado 2020

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

por Wafa, Abdulsamad, Jarjour, Rami A., Alolabi, Doaa, Liehr, Thomas, Hamdan, Othman, Melo, Joana B., Carreira, Isabel M., Othman, Moneeb A. K., Al-Achkar, Walid
Publicado 2020

NMR metabonomic study of lung cancer: metabolic profiling of tissues

por 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
Publicado 2010

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

por 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
Publicado 2014

Recommendations for reporting results of diagnostic genomic testing

por Deans, Zandra C., Ahn, Joo Wook, Carreira, Isabel M., Dequeker, Elisabeth, Henderson, Mick, Lovrecic, Luca, Õunap, Katrin, Tabiner, Melody, Treacy, Rebecca, van Asperen, Christi J.
Publicado 2022

NMR metabonomic study of lung cancer: metabolic profiling of urine and blood plasma

por Carrola, Joana, Rocha, Cláudia M, Barros, António S, Gil, Ana M, Goodfellow, Brian J, Carreira, Isabel M, Bernardo, João, Gomes, Ana, Sousa, Vitor, Carvalho, Lina, Duarte, Iola F
Publicado 2010