17 results on '"Picci, Luigi"'
Search Results
2. A 10-year large-scale cystic fibrosis carrier screening in the Italian population
3. Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay
4. Evidence for an association between migraine and the hypocretin receptor 1 gene
5. Association between carrier screening and incidence of cystic fibrosis
6. TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis
7. Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility
8. Screening for cystic fibrosis gene mutations by multiplex DNA amplification
9. Linkage analysis of neurofibromatosis type 1: Study of a homogeneous North Italian population with five DNA markers of chromosome 17
10. Association between Major Mood Disorders and the hypocretin receptor 1 gene
11. Heterozygous variant at nucleotide position 875+11A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity by line probe assay
12. Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism
13. Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers
14. Detection of Five Rare Cystic Fibrosis Mutations Peculiar to Southern Italy: Implications in Screening for the Disease and Phenotype Characterization for Patients with Homozygote Mutations
15. A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy
16. Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement
17. Development and characterization of a binary gene expression system based on bacteriophage T7 components in adenovirus vectors
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