18 documents found, page 1 of 2
Ancestry of the major long-range regulatory site of the α-globin genes in the P...
Pena, Rita; Lopes, Pedro; Gaspar, Gisela; Miranda, Armandina; Faustino, PaulaBackground: The α-Major Regulatory Element (α-MRE), also known as HS-40, is located upstream of the α-globin gene cluster and has a crucial role in the long-range regulation of the α-globin gene expression. This enhancer is polymorphic and several haplotypes were identified in different populations, with haplotype D almost exclusively found in African populations. The purpose of this research was to identify th...
Hemoglobinopatias - Abordagem Laboratorial
Miranda, Armandina; Gaspar, GiselaFolheto técnico sobre a abordagem laboratorial das hemoglobinopatias.
Diabetes Tipo MODY – Caracterização Molecular
Gaspar, Gisela; Miranda, ArmandinaFolheto técnico sobre caracterização molecular da Diabetes Tipo MODY.
The use of gene-specific classification guidelines VS ACMG 2015: MODY case study
Dario, Paulo; Vaz, Margarida; Gaspar, Gisela; Bourbon, MafaldaMaturity Onset Diabetes of the Young (MODY) is a form of diabetes characterized as a dominant monogenic disorder. It is caused by pathogenic or likely pathogenic variants in any of the 14 genes currently associated with the disease. Since 2015 our laboratory has employed the classification algorithm guidelines established by the American College of Medical Genetics and Genomics and the Association for Molecular...
Deficiência em Desidrogenase da Glicose-6-fosfato – Caracterização Molecular
Gaspar, Gisela; Miranda, ArmandinaFolheto técnico sobre a caracterização molecular da Deficiência em Desidrogenase da Glicose-6-fosfato.
Deletional alpha-thalassemia and hematological phenotype: predictive parameters...
Gaspar, Gisela; Ramalho, Rita de Mira; Seuanes, Filomena; Feliciano, Carla; Duarte, Guida; Copeto, Sandra; Costa, Alcina; Santos, João XavierIntroduction: Thalassemias are characterized by a quantitative imbalance of the globin chains due to the reduction or suppression of the synthesis of one of the globin chains.The hematological tests usually used as indicative for the investigation of α-thalassemia are the blood count with MCV (Mean Cell Volume) < 80 fL and/or MCH (Mean Cell Hemoglobin) < 27 pg and normal Hb A2 (< 3.5%). Aim: This study aimed to...
Avaliação de diferenças bioquímicas entre indivíduos diabéticos com e sem varia...
Vaz, Margarida; Gaspar, Gisela; Agapito, Ana; Neves, Ana Carolina; Bogalho, Ana Paula; Almeida, Bruno; Pereira, Carla; Fonseca, FernandoA diabetes tipo MODY (Maturity-onset diabetes of the young) é um tipo de diabetes causada por mutações em um único gene. Existe 14 genes associados a essa doença, no entanto, a maioria dos casos de MODY é causada por alterações nos genes GCK, HNF1A, HNF1B e HNF4A. Cada subtipo desta patologia apresenta características fenotípicas, metabólicas e complicações para a saúde distintas o que exige uma adequação terap...
Ancestry of the major long-range regulatory site of the α-globin genes in the P...
Pena, Rita; Lopes, Pedro; Gaspar, Gisela; Miranda, Armandina; Faustino, PaulaThe α-major regulatory element (known as HS-40) has a crucial role in the long-range regulation of the α-globin gene expression. This element is genetically polymorphic and six haplotypes (A to F) have been identified in different populations, with haplotype D almost exclusively found in African populations. This study aimed to identify the HS-40 haplotype associated with the common 3.7kb α-thalassemia deletion...
Ancestry of the α-MRE Associated with the 3.7kb α-Thalassemia Deletion in the P...
Pena, Rita; Lopes, Pedro; Gaspar, Gisela; Miranda, Armandina; Faustino, PaulaThe α-major regulatory element (α-MRE), also known as HS-40, is located upstream of the α-globin gene cluster and has a crucial role in the long-range regulation of the α-globin gene expression. It is genetically polymorphic and six haplotypes (A to F) have been identified in different populations. The D haplotype was primary described in African populations and is nearly absent in other populations. The aims o...
Alfa-talassémia delecional e fenótipo hematológico: parâmetros associados às di...
Gaspar, Gisela; Ramalho, Rita de Mira; Seuanes, Filomena; Feliciano, Carla; Duarte, Guida; Copeto, Sandra; Costa, Alcina; Santos, João XavierAs talassémias são caracterizadas por um desequilíbrio quantitativo nas cadeias globinicas devido à redução ou supressão da síntese de uma das cadeias. Foram avaliados retrospetivamente os resultados de 496 casos suspeitos de α-talassémia delecional e correlacionados com os dados hematológicos. A pesquisa de deleções causadoras de α-talassémia foi efetuada por Gap e Multiplex Gap-PCR. A maioria dos casos (n=190...