34 results on '"Pierandrei, Silvia"'
Search Results
2. DAT gene polymorphisms (rs28363170, rs393795) and levodopa-induced dyskinesias in Parkinson's disease
3. Quantitative Evaluation of CFTR Gene Expression: A Comparison between Relative Quantification by Real-Time PCR and Absolute Quantification by Droplet Digital PCR
4. The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis
5. The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes
6. Polymorphism of the 3′-UTR of the dopamine transporter gene (DAT) in New World monkeys
7. A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis
8. A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation
9. Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells
10. DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes
11. Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society
12. Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract
13. The Genetics of CFTR: Genotype - Phenotype Relationship, Diagnostic Challenge and Therapeutic Implications
14. A template for mutational data analysis of the CFTR gene
15. Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene
16. MOESM1 of A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis
17. Polymorphism of the 3′-UTR of the dopamine transporter gene (DAT) in New World monkeys
18. The gene targeting approach of small fragment homologous replacement: influence of epigenetics, DNA repair and cell cycle
19. Influenza del pattern mutazionale del gene CFTR sul test genetico e sulla relazione genotipo-fenotipo in diverse forme di fibrosi cistica
20. Occurrence of complex alleles, revealed by extensive mutational analysis, can account for high sweat test variability
21. The variable phenotype of the (TG)12T5 or L997F compound heterozygotes
22. High-throughput mutational analysis, complex alleles and genotype – phenotype relationship in Cystic Fibrosis
23. Automation of CFTR re-sequencing: time and cost analysis
24. Does male fertility impairment due to idiopathic semen hyperviscosity depend on CFTR gene mutations?
25. Progettazione e validazione di un metodo semiautomatizzato di ricerca mutazionale nel CFTR, basato su multiplex mini-sequencing, integrato in una procedura a tre step ad elevata sensibilità diagnostica (detection rate)
26. Extensive CFTR mutational analysis in patients with CBAVD
27. Caratterizzazione genetica di soggetti affetti da fibrosi cistica mediante metodi semiautomatizzati di analisi mutazionale ad elevata sensibilità
28. Caratterizzazione di mutazioni rare del gene CFTR
29. Parametrizzazione del software SeqScape per l’analisi mutazionale dei dati di sequenza del gene CFTR
30. Selezione di varianti genomiche in forme atipiche di Fibrosi Cistica
31. Frequency and Functional analysis of CFTR gene sequenze variations found in atipycal forms of CF and potentially affecting RNA splicing
32. Analisi strutturale e funzionale del tratto polimorfico (GATT)n del CFTR in forme di infertilità maschile riconducibili alla Fibrosi Cistica
33. The Impact on Genetic Testing of Mutational Patterns of CFTRGene in Different Clinical Macrocategories of Cystic Fibrosis
34. A new complex allele of the CFTRgene partially explains the variable phenotype of the L997F mutation
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