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TitoloData di pubblicazioneAutoriTipoAbstract
Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases2015ORRU, SANDRO  ; 1 Contributo su Rivista::1.1 Articolo in rivista
Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia2015ORRU, SANDRO  ; 1 Contributo su Rivista::1.1 Articolo in rivista
Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male2015ORRU, SANDRO  ; 1 Contributo su Rivista::1.1 Articolo in rivista
A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics2014ORRU, SANDRO  ; 1 Contributo su Rivista::1.1 Articolo in rivista
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature2014ORRU, SANDRO  ; 1 Contributo su Rivista::1.1 Articolo in rivista
Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report2014ORRU, SANDRO  ; 1 Contributo su Rivista::1.1 Articolo in rivista
ALTERED STRESS GRANULE ASSEMBLY IN CULTURED FIBROBLASTS FROM ALS PATIENTS CARRYING A TARDBP MUTATION2014SOGOS, VALERIA  ; BRANCIA, CARLA  ; ORRU, SANDRO  4 Contributo in Atti di Convegno (Proceeding)::4.2 Abstract in Atti di convegno-
De novo 15.5-Mb interstitial deletion in 5p in a male ascertained by oligospermia2013ORRU, SANDRO  ; 1 Contributo su Rivista::1.1 Articolo in rivista
Stress granule assembly in cultured fibroblast from TDP-43 mutant ALS patients. 2013BRANCIA, CARLA  ; ORRU, SANDRO  ; SOGOS, VALERIA  4 Contributo in Atti di Convegno (Proceeding)::4.2 Abstract in Atti di convegno-
Homozygosity for killer immunoglobin-like receptor haplotype A predicts complete molecular response to treatment with tyrosine kinase inhibitors in chronic myeloid leukemia patients2013LA NASA, GIORGIO  ; CAOCCI, GIOVANNI  ; MULAS, OLGA  ; ORRU, SANDRO  ; FLORIS, ANDREA  ; CARCASSI, CARLO  1 Contributo su Rivista::1.1 Articolo in rivista
Role of human leukocyte antigen-G 14-base pair polymorphism in kidney transplantation outcomes2013PANI, ANTONELLO  ; CAOCCI, GIOVANNI  ; ORRU, SANDRO  ; LA NASA, GIORGIO  ; CARCASSI, CARLO  1 Contributo su Rivista::1.1 Articolo in rivista
Absence of activating killer immunoglobulin-like receptor genes combined with hepatitis C viral genotype is predictive of hepatocellular carcinoma2013CHESSA, LUCHINO  ; CAOCCI, GIOVANNI  ; FLORIS, ANDREA  ; ORRU, SANDRO  ; LA NASA, GIORGIO  ; CARCASSI, CARLO  1 Contributo su Rivista::1.1 Articolo in rivista
Stress granules induced by oxidative stress in cultured fibroblast from TDP-43 mutant ALS patients2013BRANCIA, CARLA  ; CONI, PAOLA  ; ORRU, SANDRO  ; SOGOS, VALERIA  4 Contributo in Atti di Convegno (Proceeding)::4.2 Abstract in Atti di convegno
Comparison Between an Artificial Neural Network and Logistic Regression in Predicting Long Term Kidney Transplantation Outcome2013CAOCCI, GIOVANNI  ; BACCOLI, ROBERTO  ; ORRU, SANDRO  ; CARCASSI, CARLO  ; LA NASA, GIORGIO  2 Contributo in Volume::2.1 Contributo in volume (Capitolo o Saggio)
Kir haplotype aa is a possible predictive marker of complete molecular response to tyrosine kinase inhibitors in patients with chronic myeloid leukemia2013CAOCCI, GIOVANNI  ; LA NASA, GIORGIO  ; MULAS, OLGA  ; ORRU, SANDRO  ; CARCASSI, CARLO  1 Contributo su Rivista::1.5 Abstract in rivista-
The human leukocyte antigen-g 14-bp polymorphism is an independent genetic risk marker of long-term kidney transplantation outcome2012CAOCCI, GIOVANNI  ; ORRU, SANDRO  ; LA NASA, GIORGIO  ; CARCASSI, CARLO  4 Contributo in Atti di Convegno (Proceeding)::4.2 Abstract in Atti di convegno-
Tetrasomy 9p mosaicism associated with a normal phenotype in two cases2012ORRU, SANDRO  ; 1 Contributo su Rivista::1.1 Articolo in rivista
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis2012ORRU, SANDRO  ; CARCASSI, CARLO  ; 1 Contributo su Rivista::1.1 Articolo in rivista
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature2012ORRU, SANDRO  ; 1 Contributo su Rivista::1.1 Articolo in rivista-
THE HLA-G 14-BP POLYMORPHISM IS AN INDEPENDENT GENETIC RISK MARKER OF LONG-TERM KIDNEY TRANSPLANTATION OUTCOME2012CAOCCI, GIOVANNI  ; ORRU, SANDRO  ; LA NASA, GIORGIO  ; CARCASSI, CARLO  1 Contributo su Rivista::1.5 Abstract in rivista-
   
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