1. Association of the FcepsilonRIbeta gene with bronchial hyper-responsiveness in an Italian population. Issue 8 (August 1998) Authors: Trabetti, E; Cusin, V; Malerba, G; Martinati, L C; Casartelli, A; Boner, A L; Pignatti, P F Journal: Journal of medical genetics Issue: Volume 35:Issue 8(1998) Page Start: 680 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. Issue 12 (December 1994) Authors: Gomez-Lira, M; Sangalli, A; Pignatti, P F; Digilio, M C; Giannotti, A; Carnevale, E; Mottes, M Journal: Journal of medical genetics Issue: Volume 31:Issue 12(1994) Page Start: 965 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations. Issue 5 (May 1993) Authors: Turco, A E; Padovani, E M; Chiaffoni, G P; Peissel, B; Rossetti, S; Marcolongo, A; Gammaro, L; Maschio, G; Pignatti, P F Journal: Journal of medical genetics Issue: Volume 30:Issue 5(1993) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. Issue 8 (August 1992) Authors: Gasparini, P; Borgo, G; Mastella, G; Bonizzato, A; Dognini, M; Pignatti, P F Journal: Journal of medical genetics Issue: Volume 29:Issue 8(1992) Page Start: 558 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Pancreatic function and gene deletion F508 in cystic fibrosis. Issue 11 (November 1990) Authors: Borgo, G; Mastella, G; Gasparini, P; Zorzanello, A; Doro, R; Pignatti, P F Journal: Journal of medical genetics Issue: Volume 27:Issue 11(1990) Page Start: 665 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Segregation analysis of dominant osteogenesis imperfecta in Italy. Issue 6 (June 1990) Authors: Mottes, M; Cugola, L; Cappello, N; Pignatti, P F Journal: Journal of medical genetics Issue: Volume 27:Issue 6(1990) Page Start: 367 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Skeletal malformations and polycystic kidney disease. Issue 9 (September 1994) Authors: Turco, A E; Peissel, B; Rossetti, S; Pignatti, P F; Padovani, E M; Chiaffoni, G P Journal: Journal of medical genetics Issue: Volume 31:Issue 9(1994) Page Start: 741 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗