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1. Thrombin generation assay in COVID-19 patients shows a hypocoagulable pattern

2. VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial

3. Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response

4. Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features

5. APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants

6. The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam

8. Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

9. Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease

10. Thoracic ultrasound combined with low-dose computed tomography may represent useful screening strategy in highly exposed population in the industrial city of Taranto (Italy)

11. miRNA deregulation and relationship with metabolic parameters after Mediterranean dietary intervention in BRCA-mutated women

12. Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation

13. KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma

14. Electro-clinical features and management of the late stage of Lafora disease

15. False-positive results of SARS-CoV-2 IgM/IgG antibody tests in sera stored before the 2020 pandemic in Italy

16. The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

17. Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome

18. The Role of Cardiac Resynchronization Therapy for the Management of Functional Mitral Regurgitation

19. Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy

20. Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction

21. Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategiesResearch in context

22. Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development

23. Genome-Wide Gene Expression Analysis of Mtb-Infected DC Highlights the Rapamycin-Driven Modulation of Regulatory Cytokines via the mTOR/GSK-3β Axis

24. Factors Associated with Delirium in COVID-19 Patients and Their Outcome: A Single-Center Cohort Study

25. Early-Onset Diabetes as Risk Factor for Pancreatic Cancer: miRNA Expression Profiling in Plasma Uncovers a Role for miR-20b-5p, miR-29a, and miR-18a-5p in Diabetes of Recent Diagnosis

26. Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance

27. Dissecting molecular mechanisms of resistance to NOTCH1-targeted therapy in T-cell acute lymphoblastic leukemia xenografts

28. Clinical Significance of Circulating miR-1273g-3p and miR-122-5p in Pancreatic Cancer

29. Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

30. A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4

31. Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients

32. Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription

33. Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?

34. Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.

35. The Emerging Role of Altered d-Aspartate Metabolism in Schizophrenia: New Insights From Preclinical Models and Human Studies

36. Diagnosis of COVID-19 in Patients with Negative Nasopharyngeal Swabs: Reliability of Radiological and Clinical Diagnosis and Accuracy Versus Serology

37. Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

38. A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System—A Close Look at Chromosome 15

39. Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

40. Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells

41. High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE.

42. Comparison between Real-Time Quantitative PCR Detection of HER2 mRNA Copy Number in Peripheral Blood and ELISA of Serum HER2 Protein for Determining HER2 Status in Breast Cancer Patients

43. Molecular Detection of Neuron-Specific ELAV-Like-Positive Cells in the Peripheral Blood of Patients with Small-Cell Lung Cancer

44. Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus.

45. Addendum: Palmieri, O. et al. Functional Implications of MicroRNAs in Crohn’s Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling. Int. J. Mol. Sci. 2017, 18, 1580

46. Functional Implications of MicroRNAs in Crohn’s Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling

47. A miRNA signature for defining aggressive phenotype and prognosis in gliomas.

48. Evaluation of genome-wide expression profiles of blood and sputum neutrophils in cystic fibrosis patients before and after antibiotic therapy.

49. Differences in gene expression and cytokine release profiles highlight the heterogeneity of distinct subsets of adipose tissue-derived stem cells in the subcutaneous and visceral adipose tissue in humans.

50. Genome-wide analysis of differentially expressed genes and splicing isoforms in clear cell renal cell carcinoma.

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