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Mostrando ítems 2101-2110 de 2825
CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms
(Taylor & Francis, 2018-04)
Objectives: To establish the frequency of JAK2, MPL and CALR mutations in Argentinean patients with BCR-ABL1-negative myeloproliferative neoplasms (MPN) and to compare their clinical and haematological features. Methods: ...
Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
(Elsevier Science, 2018-03)
Background: Fabry disease (FD) is an underdiagnosed cause of stroke in youngadults, but the frequency of this association is largely unknown. We estimatedthe prevalence of FD in a nationwide cohort of young adults who had ...
Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina
(MedCrave, 2019-04)
Aim: To report the case of a patient who suffered from cerebral amyloid angiopathy due to an autosomal dominant mutation in the APP gene Design/Methods: Medical record and neuroimaging revision. DNA extraction from the ...
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America
(Elsevier Science Inc, 2016-12)
Frontotemporal lobar degeneration is a neuropathological disorder that causes a variety of clinical syndromes including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal syndrome (CBS). FTD ...
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency
(Humana Press, 2015-07)
Purpose: To search for the presence of genetic variants in a distal regulatory region (Z promoter) of the CYP21A2 gene in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Methods: Screening ...
Chloroplast and ITS phylogenies to understand the evolutionary history of southern South American Azorella, Laretia and Mulinum (Azorelloideae, Apiaceae)
(Academic Press Inc Elsevier Science, 2017-03)
Azorella, Laretia and Mulinum are taxonomically complex, and good candidates to study evolutionary radiations in the Andes and the importance of hybridizations. Previous phylogenetic studies of subfamily Azorelloideae agree ...
New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism
(Elsevier Ireland, 2013-01-30)
The thyroglobulin (TG) gene is organized in 48 exons, spanning over 270 kb on human chromosome 8q24. Up to now, 62 inactivating mutations in the TG gene have been identified in patients with congenital goiter and endemic ...
Sistemática de Azorella-Mulinum (Azorelloideae, Apiaceae): morfología, filogenias moleculares y revisión taxonómica.
(2019-11-05)
El grupo Azorella-Mulinum está conformado por los géneros Azorella, Laretia y Mulinum (Azorelloideae, Apiaceae), es principalmente sudamericano e importante por su dominancia en regiones elevadas de los Andes y en la estepa ...
Lipoproteína “a”: elevaciones extremas y polimorfismos genéticos, asociación con lesiones cardíacas y vasculares evaluadas por tomografíaLipoprotein a: Extreme Elevation and Genetic Polymorphism Association with Cardiac and Vascular Lesions Evaluated by Computed Tomography
(Sociedad Argentina de Cardiología, 2017-05)
Introducción: La lipoproteína a [Lp(a)] es una partícula compleja, similar a una lipoproteína de baja densidad, asociada con una molécula de apolipoproteína “a” [apo(a)]. La concentración elevada de Lp(a) plasmática se ...
Changes in the TCRβ repertoire and tumor immune signature from a cutaneous melanoma patient immunized with the CSF-470 vaccine: A case report
(Frontiers Media S.A., 2018-05)
The allogeneic therapeutic vaccine CSF-470 has demonstrated a significant benefit over medium-dose IFNa2b in the distant metastasis-free survival for stages IIB-IIC-III cutaneous melanoma patients in a randomized phase ...