Search Results - "Carrió, A"
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1
Smoldering multiple myeloma: natural history and recognition of an evolving type
Published in British journal of haematology (01-11-2003)“…Patients with smoldering multiple myeloma (SMM) meet the diagnostic criteria of multiple myeloma (MM) but are asymptomatic. Between January 1978 and July 2001,…”
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2
Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets
Published in Leukemia (01-03-2018)“…Genome studies of diffuse large B-cell lymphoma (DLBCL) have revealed a large number of somatic mutations and structural alterations. However, the clinical…”
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3
Elastin mutation screening in a group of patients affected by vascular abnormalities
Published in Pediatric cardiology (01-12-2005)“…Supravalvular aortic stenosis is an uncommon but well-characterized congenital form of left ventricular outflow obstruction. The lesion involves the ascending…”
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4
Gas stripping assisted vapour permeation using graphene membrane on silicon carbide for ethanol recovery
Published in Scientific reports (16-06-2023)“…The conventional methods for ethanol recovery in low concentrations from diluted aqueous solutions are limited by the high energy consumed. Therefore,…”
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5
313 Clinical features and prognostic significance of monosomal karyotype (MK) in the myelodysplastic syndromes (MDS)
Published in Leukemia research (2011)Get full text
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6
Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features
Published in Clinical genetics (01-01-2004)“…Mental retardation affects 1–3% of the general population, and the genetic causes in many cases are unknown. Cytogenetically undetected chromosomal imbalances…”
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7
Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection
Published in Fertility and sterility (01-09-1998)“…To determine the prevalence and type of Y chromosome microdeletions in 136 consecutively seen intracytoplasmic sperm injection (ICSI) candidates and in 50…”
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8
Chronic lymphocytic leukemia in the elderly: clinico-biological features, outcomes, and proposal of a prognostic model
Published in Haematologica (Roma) (01-10-2014)“…We investigated the clinico-biological features, outcomes, and prognosis of 949 patients with chronic lymphocytic leukemia according to age. No biological…”
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Rapid diagnosis of acute promyelocytic leukemia by analyzing the immunocytochemical pattern of the PML protein with the monoclonal antibody PG-M3
Published in American journal of clinical pathology (01-11-2000)“…The fusion protein, promyelocytic leukemia-retinoic acid receptor (PML-RAR)alpha, generated by the t(15;17) translocation has an abnormal cellular distribution…”
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10
Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis
Published in Journal of medical genetics (01-09-1998)“…Cytogenetic analysis, fluorescent in situ hybridisation (FISH), and molecular amplification have been used to characterise the transfer of Yp fragments to…”
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11
Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements
Published in Journal of medical genetics (01-04-1999)“…Trisomy/tetrasomy 21 mosaicism was found in chorionic villi (semidirect preparation) obtained from a 40 year old pregnant woman. Since both cell lines were…”
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12
High-grade prostate intraepithelial neoplasia shares cytogenetic alterations with invasive prostate cancer
Published in The Prostate (01-04-2001)“…BACKGROUND High‐grade prostate intraepithelial neoplasia (PIN) is the most likely precursor of prostate adenocarcinoma. However, the relationship between this…”
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13
Blast Crisis of Ph-Positive Chronic Myeloid Leukemia with Isochromosome 17q: Report of 12 Cases and Review of the Literature
Published in Leukemia & lymphoma (2000)“…Isochromosome 17q [i(17q)] is frequently observed in the blast crisis (BC) of chronic myel-ogenous leukemia (CML). It has been suggested that this chromosome…”
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14
PHYLOViZ: phylogenetic inference and data visualization for sequence based typing methods
Published in BMC bioinformatics (08-05-2012)“…With the decrease of DNA sequencing costs, sequence-based typing methods are rapidly becoming the gold standard for epidemiological surveillance. These methods…”
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15
Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome
Published in Medicina clínica (19-06-1999)“…Williams-Beuren syndrome is a developmental disorder affecting vascular and connective tissues and central nervous system. The syndrome is caused by a…”
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16
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes
Published in Journal of molecular medicine (Berlin, Germany) (01-02-2001)“…Phenylketonuria is one of the most common genetic diseases in humans, affecting 1 in 10,000 whites. Deletions are generally uncommon in genes in which no long…”
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17
Assaying the granulocyte-macrophage colony-stimulating factor (GM-CSF) as a mitogen of immature cells in fetal blood cultures
Published in Prenatal diagnosis (01-01-1999)“…Based on the presence of immature cells in fetal blood, and in an attempt to shorten the cytogenetic reporting time, three simultaneous one‐day culture regimes…”
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18
Cytogenetic studies in fetal blood
Published in Fetal diagnosis and therapy (01-05-1998)“…In order to assess the effectiveness and reliability of cytogenetic diagnosis provided by fetal blood, we report the first 186 cases of fetal blood sampling…”
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19
A computational algorithm for system modelling based on bi-dimensional finite element techniques
Published in Advances in engineering software (1992) (2009)“…This paper develops a modelling methodology for studying relations defined a priori in two dimensions, z = u( x, y), for which experimental data are known. An…”
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20
Preparation and degradation of surfactant-free PLAGA microspheres
Published in Journal of controlled release (01-11-1995)“…PLA oligomers which have an amphiphilic surfactant-like structure with a polar head and a long hydrophobic tail were used to prepare self-stabilized…”
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