Sfoglia per Autore
Amplification of DNA from epithelial cells in urine
1989-01-01 Gasparini, Paolo; Savoia, Anna; Pignatti, Pf; Dallapiccola, B; Novelli, G.
First trimester prenatal diagnosis of Cystic Fibrosis using the polymerase chain reaction: report of eight cases
1989-01-01 Gasparini, Paolo; Novelli, G; Savoia, Anna; Dallapiccola, B; Pignatti, Pf
Linkage disequilibrium for DNA haplotypes near the Cystic Fibrosis locus in two South European populations
1989-01-01 Estivill, X; Gasparini, Paolo; Novelli, G; Casals, T; Nunes, V; Gallano, P; Savoia, Anna; Ruzzo, A; Dallapiccola, B; Pignatti, Pf
DeltaF508 gene deletion in Cystic Fibrosis in Southern Europe
1989-01-01 Estivill, X; Casals, T; Morral, N; Chillon, M; Bosch, A; Nunes, V; Gasparini, Paolo; Savoia, Anna; Pignatti, Pf; Novelli, G; Dallapiccola, B; Fernandez, E; Benitez, J; Williamson, R.
THE CYSTIC FIBROSIS GENE IS NOT LIKELY TO BE INVOLVED IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE
1990-01-01 Gasparini, Paolo; Savoia, Anna; Luisetti, M; Peona, V; Pignatti, Pf
DeltaF508 gene deletion and prenatal diagnosis of Cystic Fibrosis in Italian and Spanish families
1990-01-01 Novelli, G; Sangiuolo, F; Dallapiccola, B; Gasparini, Paolo; Savoia, Anna; Pignatti, Pf; Fernandez, E; Benitez, J; Casals, T; Nunes, V; Manas, P; Estivill, X.
Polymorphic DNA haplotypes and deltaF508 deletion in 212 Italian CF families
1990-01-01 Novelli, G; Gasparini, Paolo; Savoia, Anna; Pignatti, Pf; Sangiuolo, F; Dallapiccola, B.
Regional distribution of Cystic fibrosis linked DNA haplotypes in Italy, a collaborative study
1990-01-01 Gasparini, Paolo; Cappello, N.; Dallapiccola, B.; Devoto, M.; Estivill, X.; Ferrari, M.; Leoni, G.; Novelli, G.; Piazza, A.; Pignatti, P. F.; Romeo, G.; Rosatelli, C.; Savoia, Anna; Seia, M.; Williamson, R.
Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium
1990-01-01 Savoia, Anna; Italy, ; Komel, R; RAVNIK GLAVAC M., UNIVERSITY OF LJUBLJANA; Yugoslavia,
The genotype of a new linked DNA marker, MP6-d9, is related to the clinical course of Cystic Fibrosis
1990-01-01 Gasparini, Paolo; Novelli, G; Estivill, X; Olivieri, D; Savoia, Anna; Ruzzo, A; Nunes, V; Borgo, G; Antonelli, M; Williamson, R; Pignatti, Pf; Dallapiccola, B.
Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorfisms in the Italian population
1990-01-01 Gasparini, Paolo; Trabetti, E; Savoia, Anna; Marigo, M; Pignatti, Pf
The search for South European Cystic Fibrosis mutations: identifiaction of two new mutations, four variants and intronic sequences
1991-01-01 Gasparini, Paolo; Nunes, V; Savoia, Anna; Dognini, M; Morral, M; Gaona, A; Bonizzato, A; Chillon, M; Sangiuolo, F; Novelli, G; Dallapiccola, B; Pignatti, Pf; Estivill, X.
Haplotype analysis to determine the position of a mutation among closely linked DNA markers
1993-01-01 Ramsay, M; Williamson, R; Estivill, X; Wainwright, Bj; HO M., F; Halford, S; Kere, J; Savilahti, E; DE LA CHAPELLE, A; Schwatz, M; Schwartz, M; Super, M; Farndon, P; Harding, C; Meredith, L; AL JODOR, L; Ferec, C; Claustres, M; Casals, T; Nunes, V; Gasparini, Paolo; Savoia, Anna; Pignatti, Pf; Novelli, G; Gennarelli, M; Dallapiccola, B; Kalaydjieva, L; Scambler, Pj
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC).
1993-01-01 Gibson, Ra; Savoia, Anna; Buchwald, M; Mathew, Cg
Genetic Mapping of the FACC Gene and Linkage Analysis in Fanconi Anaemia FamilIes
1994-01-01 Gibson, R; Ford, D; S., Jansen; Savoia, Anna; Havenga, C; Milner, Rd; DE RAVEL, Tj; Cohn, Rj; Ball, Se; Roberts, I; Llerena, Jc; Vorechovsky, I; Pearson, T; Birjandi, F; Hussein, Ss; MURER ORLANDO, M; Easton, Df; Mathew, Cg
Phoshatase inhibitor activate normal and defective CFTR chloride channels
1994-01-01 Becq, F; Jensen, Tj; CHANG X., B; Savoia, Anna; Rommens, Jm; TSUI L., C; Buchwald, M; Riordan, Jr; Hanrahan, Jw
Mitochondrial Myopathies
1994-01-01 Zeviani, M.; Amati, P.; Savoia, Anna
Eterogeneità clinica e molecolare dell'anemia di Fanconi
1995-01-01 Savoia, Anna; Dallapiccola, B.
The characterization of the 5' region of the Fanconi Anemia Group C (FACC) gene
1995-01-01 Savoia, Anna; Centra, M; Ianzano, L; DE CILLIS, Gp; Zelante, L; Buchawald, M.
Localization of the Fanconi anemia complementation group A gene to chromosome 16q24.3
1995-01-01 Pronk, Jc; Gibson, R; Savoia, Anna; Wijker, M; Morgan, N; Melchionda, S; Ford, D; Temtamy, S; Ortega, Jj; Jansen, S; Havenga, C.
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