Search Results - "Estevinho, Alexandra"

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency by Neves, Ana Raquel, Pais, Ana Sofia, Ferreira, Susana Isabel, Ramos, Vera, Carvalho, Maria João, Estevinho, Alexandra, Matoso, Eunice, Geraldes, Fernanda, Marques Carreira, Isabel, Águas, Fernanda

“…Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation…”
Get full text

Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene by Melo, Joana B, Estevinho, Alexandra, Saraiva, Jorge, Ramos, Lina, Carreira, Isabel M

“…Wide genome screening through array comparative genomic hybridization made possible the recognition of the novel 19q13.11 deletion syndrome. There are very few…”
Get full text

Sequence Analysis of MPL Exon 10 of ET and MF JAK2 V617F Negative Patients Reveals a New Mutation by Bento, Celeste, Duarte, Marta, Almeida, Helena, Menezes, Cristina, Estevinho, Alexandra, Coucelo, Margarida, Kaeda, Jaspal, Ribeiro, Maria Leticia

“…Background. Diagnosis and classification of myeloproliferative disorders was greatly enhanced by reports describing JAK2V617F mutation in Polycythemia Rubra…”
Get full text

Unexpected pattern of β‐globin mutations in β‐thalassaemia patients from northern Portugal by Cabeda, José M., Correia, Cristina, Estevinho, Alexandra, Simões, Carla, Amorim, Maria Luis, Pinho, Luciana, JustiçA, Benvindo

“…We characterized the genetic nature of β‐thalassaemia in northern Portugal. Of the 164 patients studied three were β‐thalassaemia major cases (one IVS‐1‐6/β°39…”
Get full text

Unexpected pattern of (beta)-globin mutations in (beta)-thalassaemia patients from northern Portugal by Cabeda, Jose M, Correia, Cristina, Estevinho, Alexandra, Simoes, Carla

Get full text

Clinicobiological, Immunophenotypic, and Molecular Characteristics of Monoclonal CD56 −/+dim Chronic Natural Killer Cell Large Granular Lymphocytosis by Lima, Margarida, Almeida, Julia, Montero, Andrés García, Teixeira, Maria dos Anjos, Queirós, Maria Luís, Santos, Ana Helena, Balanzategui, Ana, Estevinho, Alexandra, Algueró, Maria del Cármen, Barcena, Paloma, Fonseca, Sónia, Amorim, Maria Luís, Cabeda, José Manuel, Pinho, Luciana, Gonzalez, Marcos, Miguel, Jesus San, Justiça, Benvindo, Orfão, Alberto

“…Indolent natural killer (NK) cell lymphoproliferative disorders include a heterogeneous group of patients in whom persistent expansions of mature, typically…”
Get full text

Unexpected pattern of β-globin mutations in β-thalassaemia patients from northern Portugal by CABEDA, J. M, CORREIA, C, ESTEVINBO, A, SIMÖES, C, AMORIM, M. L, PINHO, L, JUSTICA, B

“…We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one…”
Get full text

Advances in the genotyping of thrombosis genetic risk factors: clinical and laboratory implications by Cabeda, José Manuel, Pereira, Mónica, Oliveira, José Miguel, Estevinho, Alexandra, Pereira, Irene, Morais, Sara, Justiça, Benvindo, Campos, Manuel

“…Since FV-Leiden polymorphism was first described in 1994, a growing number of polymorphic loci have been identified in association with increased genetic risk…”
Get more information

Estudo Retrospetivo dos Exames Anátomo-Patológicos Solicitados Pela Faculdade de Medicina Dentária da Universidade do Porto Desde 1985 até 2011 by Estevinho, Bruna Alexandra Gonçalves Gomes

“…Para obtenção do correto diagnóstico das patologias localizadas na cavidade oral é necessário, além do conhecimento das várias entidades nosológicas, efetuar…”
Get full text