5 documents found, page 1 of 1
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, JoaquimHigh resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 3...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, GuiomarBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, GuiomarBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
And when the other doctor was wrong? The art of communicating with the patient
Sá, Maria João; Neto, Joana
Perfil audiométrico em homens com síndrome de Alport
Larangeiro, João; Sá, Maria João; Oliveira, João Paulo; Moura, Carla Pinto; Santos, MargaridaObjectives: Alport’s syndrome (AS) is a hereditary nephritis associated with hematuria, progressive renal failure, high tone sensorineural deafness, and characteristic eye signs. This study analyzes the audiometric profile in male subjects with diagnosis of Alport Syndrome and correlates hearing loss to renal function.Study Design: Transversal retrospective studyMaterial and Methods: Analysis of clinical data o...