Global ETD Search

1. 1

   Analysis of TNFRSF5 gene mutations and splicing variants in CD40 receptor regulation

   Caraffi, Stefano Giuseppe <1977>Alma Mater Studiorum - Università di Bologna2007

   bologna Repository record for Analysis of TNFRSF5 gene mutations and splicing variants in CD40 receptor regulation (opens in a new tab)

2. 2

   DNA embrio-fetale nel sangue materno nel primo trimestre di gravidanza

   Capone, Lucia <1978>Alma Mater Studiorum - Università di Bologna2007

   bologna Repository record for DNA embrio-fetale nel sangue materno nel primo trimestre di gravidanza (opens in a new tab)

3. 3

   Identificazione di nuovi geni associati al fenotipo di Hirschsprung in C. Elegans e loro controparte umana

   Goldoni, Alberto <1975>Alma Mater Studiorum - Università di Bologna2007

   bologna Repository record for Identificazione di nuovi geni associati al fenotipo di Hirschsprung in C. Elegans e loro controparte umana (opens in a new tab)

4. 4

   Analisi di varianti strutturali e di sequenza in geni candidati per l'autismo sul cromosoma 2q

   Carone, Simona <1976>Alma Mater Studiorum - Università di Bologna2007

   bologna Repository record for Analisi di varianti strutturali e di sequenza in geni candidati per l'autismo sul cromosoma 2q (opens in a new tab)

5. 5

   AIRWAY SURFACE HYPERVISCOSITY AND DEFECTIVE MUCOCILIARY TRANSPORT BY IL-17/TNF-ALPHA ARE CORRECTED BY BETA-ADRENERGIC STIMULUS

   GUIDONE, DANIELAUniversità degli Studi di Milano2023

   The fluid covering the surface of airway epithelia represents a first barrier against pathogens. The chemical and physical properties of the airway surface fluid are controlled by the activity of ion channels and transporters. In cystic fibrosis (CF), loss of CFTR chloride channel function causes …

   milano Repository record for AIRWAY SURFACE HYPERVISCOSITY AND DEFECTIVE MUCOCILIARY TRANSPORT BY IL-17/TNF-ALPHA ARE CORRECTED BY BETA-ADRENERGIC STIMULUS (opens in a new tab)

6. 6

   MOLECULAR STUDY OF CHROMATINOPATHIES: THE CASE OF RUBINSTEIN-TAYBI AND RETT SYNDROMES

   DI FEDE, ELISABETTAUniversità degli Studi di Milano2023

   Background: Chromatinopathies are defined as a group of disorders displaying mutations in genes of the epigenetic apparatus and sharing clinical features such as intellectual disability and abnormal growth. Among them, Rubinstein-Taybi syndrome (RSTS) is characterized by CBP/p300 …

   milano Repository record for MOLECULAR STUDY OF CHROMATINOPATHIES: THE CASE OF RUBINSTEIN-TAYBI AND RETT SYNDROMES (opens in a new tab)

7. 7

   FUNCTIONAL ROLE OF NON-CODING REGULATORY VARIANTS IN NEUROBLASTOMA

   TIRELLI, MATILDEUniversità degli Studi di Milano2024

   Emerging evidence suggests that non-coding somatic variants in cancer can contribute to disease, mainly by residing in functional regulatory regions and ultimately affecting gene expression networks. However, their interpretation is challenging. In our recent work, whole-genome sequencing (WGS) …

   milano Repository record for FUNCTIONAL ROLE OF NON-CODING REGULATORY VARIANTS IN NEUROBLASTOMA (opens in a new tab)

8. 8

   Treatment of Dexamethasone in A-T patients derived cell lines: investigation of the drug effects in different ATM signalling pathways.

   Brusco, Alfredo, Pozzi, ElisaUniversità degli Studi di Torino2018

   unito Repository record for Treatment of Dexamethasone in A-T patients derived cell lines: investigation of the drug effects in different ATM signalling pathways. (opens in a new tab)

9. 9

   NOVEL DISEASE GENES DISCOVERY AND INNOVATIVE APPROACHES FOR INVESTIGATING NEURODEVELOPMENTAL DISORDERS

   Brusco, Alfredo, Pullano, VerdianaUniversità degli Studi di Torino2025

   unito Repository record for NOVEL DISEASE GENES DISCOVERY AND INNOVATIVE APPROACHES FOR INVESTIGATING NEURODEVELOPMENTAL DISORDERS (opens in a new tab)

10. 10

    EPIGENOMICS OF MESOTHELIOMA: computational methods in cancer research

    Matullo, Giuseppe, Cugliari, GiovanniUniversità degli Studi di Torino2023

    unito Repository record for EPIGENOMICS OF MESOTHELIOMA: computational methods in cancer research (opens in a new tab)

11. 11

    NEUROWES PROJECT: FROM WHOLE EXOME SEQUENCING DATA ANALYSIS TO FUNCTIONAL CHARACTERIZATION OF NOVEL NDD-ASSOCIATED GENES

    Brusco, Alfredo, Pavinato, LisaUniversità degli Studi di Torino2023

    unito Repository record for NEUROWES PROJECT: FROM WHOLE EXOME SEQUENCING DATA ANALYSIS TO FUNCTIONAL CHARACTERIZATION OF NOVEL NDD-ASSOCIATED GENES (opens in a new tab)

12. 12

    PRECISION MEDICINE IN SOLID ORGAN TRANSPLANTATION: DONOR-DERIVED CELL-FREE DNA AS A VALUABLE NON-INVASIVE MARKER OF GRAFT INJURY AND REJECTION

    Amoroso, Antonio, Deaglio, Silvia, Sorbini, MonicaUniversità degli Studi di Torino2024

    unito Repository record for PRECISION MEDICINE IN SOLID ORGAN TRANSPLANTATION: DONOR-DERIVED CELL-FREE DNA AS A VALUABLE NON-INVASIVE MARKER OF GRAFT INJURY AND REJECTION (opens in a new tab)

13. 13

    MtDNA mutations as modifiers in tumor progression: searching for their genetic causes through oncocytomas associated to cancer predisposing syndromes

    De Luise, MonicaUniversità degli Studi di Torino2019

    unito Repository record for MtDNA mutations as modifiers in tumor progression: searching for their genetic causes through oncocytomas associated to cancer predisposing syndromes (opens in a new tab)

14. 14

    Quantifying Genetic Risk in Complex Diseases through the integration of Rare and Common Variants

    Matullo, Giuseppe, Debernardi, CarlaUniversità degli Studi di Torino2025

    unito Repository record for Quantifying Genetic Risk in Complex Diseases through the integration of Rare and Common Variants (opens in a new tab)

15. 15

    Non-coding RNA markers and microbiome composition in stool samples for a precision medicine approach: a study on Lynch syndrome, a colorectal cancer-related disease

    Costelli, Paola, Francescato, GiuliaUniversità degli Studi di Torino2026

    unito Repository record for Non-coding RNA markers and microbiome composition in stool samples for a precision medicine approach: a study on Lynch syndrome, a colorectal cancer-related disease (opens in a new tab)

16. 16

    DNA methylation as a potential mediator of environmental risks in cancer

    Richiardi, Lorenzo, Fasanelli, FrancescaUniversità degli Studi di Torino2018

    unito Repository record for DNA methylation as a potential mediator of environmental risks in cancer (opens in a new tab)

17. 17

    The human ectoenzyme CD73 (5’ Ectonucleotidase): analysis of its role in physiology and pathology by means of specific monoclonal antibodies.

    Malavasi, Fabio, Mariani, ValentinaUniversità degli Studi di Torino2018

    unito Repository record for The human ectoenzyme CD73 (5’ Ectonucleotidase): analysis of its role in physiology and pathology by means of specific monoclonal antibodies. (opens in a new tab)

18. 18

    Therapeutic approaches in gastric cancer based on genetic and biological analysis

    Giordano, Silvia, Giachino, Claudia, De Miranda Capeloa, Tania IsabelUniversità degli Studi di Torino2018

    unito Repository record for Therapeutic approaches in gastric cancer based on genetic and biological analysis (opens in a new tab)

19. 19

    Genetic basis of Cerebral Cavernous Malformation and genetic modifiers of disease severity

    Retta, Saverio Francesco, Benedetti, ValerioUniversità degli Studi di Torino2021

    unito Repository record for Genetic basis of Cerebral Cavernous Malformation and genetic modifiers of disease severity (opens in a new tab)

20. 20

    Development of a novel cellular model to understand genotype-phenotype correlations for Polycystic Kidney Disease patients exploiting CRISPR/Cas9

    Deaglio, Silvia, Bussolati, Benedetta, Migliorero, MartinaUniversità degli Studi di Torino2024

    unito Repository record for Development of a novel cellular model to understand genotype-phenotype correlations for Polycystic Kidney Disease patients exploiting CRISPR/Cas9 (opens in a new tab)

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