7 documents found, page 1 of 1
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without ...
Fernández-Marmiesse, A.; Roca, I.; Díaz-Flores, F.; Cantarín, V.; Pérez-Poyato, M.; Fontalba, A.; Laranjeira, Francisco; Quintans, S.; Moldovan, O.In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and...
Association of circulating levels of collagen turnover biomarkers with the phen...
Brito, D. A.; Pedro, M. M. Mendes; Calisto, C.; Pires, R.; Moldovan, O.; Silva, D.; Francisco, A. R.; Guimarães, T.; Pinto, Fausto J.; Madeira, H. C.Background and aim: In patients (pts) with sarcomeric hypertrophic cardiomyopathy (sHCM) and left ventricular hypertrophy (LVH), cardiac fibrosis and diastolic dysfunction are typical features. Studies suggest that collagen turnover (ColT) is increased in sHCM, but its clinical significance and relationship with cardiac LVH and function is doubtful. In order to address this question, we evaluated the associatio...
Relationship of galectine3 and NTproBNP circulating levels with cardiac hyper...
Brito, D.; Calisto, C.; Pires, R.; Pedro, M. M. Mendes; Gonçalves, F.; Moldovan, O.; Silva, D.; Guimarães, T.; Francisco, A.R.; Pinto, Fausto J.Background and aim: Cardiac fibrosis, a hallmark of sarcomeric hypertrophic cardiomyopathy (sHCM) with left ventricular hypertrophy (LVH), is a substrate for ventricular arrhythmias and heart failure. NTproBNP plasma levels in sHCM patients (pts) are associated with LVH, cardiac dysfunction and adverse outcomes. Galectin3 (Gal3), a biomarker of fibrosis, may be also a marker of severity thus reflecting progn...
Dunnigan-type familial partial lipodystrophy in a large Portuguese Kindred
Moldovan, O.; Alves, A.C.; Medeiros, A.M.; Sousa, A.B.; Bourbon, MafaldaThe lipodystrophies are a clinically heterogeneous group of acquired or inherited disorders affecting adipose tissue distribution. Dunnigan-type familial partial lipodystrophy (FPLD2, OMIM 151660, the most prevalent subtype) is a rare autosomal dominant disease, characterized by selective absence of adipose tissue in the extremities and trunk and accumulation of fat in the face, neck and supraclavicular fossa. ...
Classification of the dup 15q13.3 CNV: A National data collection
Sousa, A.; Serafim, S.; Santos, R.; Custódio, S.; Ávila, M.; Dupont, J.; Dias P, P.; Moldovan, O.; Melo, J.; Ferreira, S.; Pires, L.; Leão, M.; Sá, S.Introduction: The proximal region 15q11q14 is one of the most unstable regions in the human genome, with six recognizable break points (BP1-BP6). In 15q13.3 there is a recurrent small CNV (BP4-BP5) consisting of a 350-680 Kb duplication, encompassing the CHRNA7 gene, which encodes the alpha 7 subunit of the neuronal nicotinic acetylcholine receptor. Although microdeletions of CHRNA7 are known to cause intellect...
Dunnigan-type familial partial lipodystrophy in a large Portuguese kindred
Moldovan, O.; Alves, A.C.; Medeiros, A.M.; Sousa, A.B.; Bourbon, M.INTRODUCTION : The lipodystrophies are a clinically heterogeneous group of acquired or inherited disorders affecting adipose tissue distribution. Dunnigan-type familial partial lipodystrophy (FPLD2, OMIM 151660, the most prevalent subtype) is a rare autosomal dominant disease, characterized by selective absence of adipose tissue in the extremities and trunk and accumulation of fat in the face, neck and supracla...
Exploration and Documentation of the Peştera cu Oase
Milota, Ş.; Gherase, M.; Sarcină, L.; Rodrigo, R.; Moldovan, O.; Trinkaus, Erik; Constantin, Silviu; Zilhão, JoãoRomania is a country dominated by one of the more important mountain chains in Europe, the Carpathian Mountains. They begin in the northwest, in southern Poland, Slovakia, northern Hungary, and southwestern Ukraine, continue southeastward toward the delta of the Danube, then arc strongly around Bra ş ov and extend westward parallel to the Danube, fading out north of the Iron Gates and on to the plains of Banat....