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

af Melo, Joana B, Estevinho, Alexandra, Saraiva, Jorge, Ramos, Lina, Carreira, Isabel M
Udgivet i Mol Cytogenet (2015)

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

af Ferreira, Susana Isabel, Matoso, Eunice, Venâncio, Margarida, Saraiva, Jorge, Melo, Joana B, Carreira, Isabel Marques
Udgivet 2012

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

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

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

af Matoso, Eunice, Ramos, Fabiana, Ferrão, José, Pires, Luís M, Mascarenhas, Alexandra, Melo, Joana B, Carreira, Isabel M
Udgivet i 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

af Ribeiro, Ilda P., Marques, Francisco, Barroso, Leonor, Rodrigues, Joana, Caramelo, Francisco, Melo, Joana B., Carreira, Isabel M.
Udgivet i Mol Med Rep (2017)

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

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

Isochromosome 17q in Chronic Lymphocytic Leukemia

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

MLPA analysis in a cohort of patients with autism

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

DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature

af Jesus-Ribeiro, Joana, Pereira, Cristina, Robalo, Conceição, Pereira, Daniela J, Duro, Diana, Ramos, Fabiana, Freire, António, Melo, Joana B
Udgivet i Oxf Med Case Reports (2021)

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

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

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

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

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

Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands

af Thielker, Jovanna, Weise, Anja, Othman, Moneeb A.K., Carreria, Isabel M., Melo, Joana B., Von Eggeling, Ferdinand, Guntinas-Lichius, Orlando, Ziegler, Monika, Liehr, Thomas
Udgivet i Oncol Lett (2020)

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

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

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

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

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

af 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
Udgivet 2007

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

af Othman, Moneeb A. K., Grygalewicz, Beata, Pienkowska-Grela, Barbara, Rincic, Martina, Rittscher, Katharina, Melo, Joana B., Carreira, Isabel M., Meyer, Britta, Marzena, Watek, Liehr, Thomas
Udgivet i J Histochem Cytochem (2015)

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

af OTHMAN, MONEEB A.K., GRYGALEWICZ, BEATA, PIENKOWSKA-GRELA, BARBARA, RYGIER, JOLANTA, EJDUK, ANNA, RINCIC, MARTINA, MELO, JOANA B., CARREIRA, ISABEL M., MEYER, BRITTA, LIEHR, THOMAS
Udgivet i Oncol Lett (2016)

Mitochondrial Alterations in Fibroblasts of Early Stage Bipolar Disorder Patients

af Marques, Ana P., Resende, Rosa, Silva, Diana F., Batista, Mariana, Pereira, Daniela, Wildenberg, Brigite, Morais, Sofia, Macedo, António, Pais, Cláudia, Melo, Joana B., Madeira, Nuno, Pereira, Cláudia F.
Udgivet i Biomedicines (2021)

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

af Othman, Moneeb A.K., Đurišić, Marina, Samardzija, Gordana, Vujić, Dragana, Lakic, Nina, Zecevic, Zeljko, Al-Shaheri, Fawaz, Aroutiounian, Rouben, Melo, Joana B., Carreira, Isabel M., Meyer, Britta, Liehr, Thomas
Udgivet i Oncol Lett (2020)