1. A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1. Issue 4 (April 1992) Authors: Tupler, R; Maraschio, P; Gerardo, A; Mainieri, R; Lanzi, G; Tiepolo, L Journal: Journal of medical genetics Issue: Volume 29:Issue 4(1992) Page Start: 253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. Issue 3 (March 1997) Authors: Tupler, R; Marseglia, G L; Stefanini, M; Prosperi, E; Chessa, L; Nardo, T; Marchi, A; Maraschio, P Journal: Journal of medical genetics Issue: Volume 34:Issue 3(1997) Page Start: 196 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. Issue 6 (1st June 2003) Authors: Soragna, D; Tupler, R; Ratti, M T; Montalbetti, L; Papi, L; Sestini, R Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 74:Issue 6(2003) Page Start: 825 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts. Issue 7 (July 1989) Authors: Maraschio, P; Tupler, R; Dainotti, E; Piantanida, M; Cazzola, G; Tiepolo, L Journal: Journal of medical genetics Issue: Volume 26:Issue 7(1989) Page Start: 452 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. Issue 9 (September 1998) Authors: Tupler, R; Barbierato, L; Memmi, M; Sewry, C A; De Grandis, D; Maraschio, P; Tiepolo, L; Ferlini, A Journal: Journal of medical genetics Issue: Volume 35:Issue 9(1998) Page Start: 778 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. Issue 5 (May 1996) Authors: Tupler, R; Berardinelli, A; Barbierato, L; Frants, R; Hewitt, J E; Lanzi, G; Maraschio, P; Tiepolo, L Journal: Journal of medical genetics Issue: Volume 33:Issue 5(1996) Page Start: 366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. Issue 1 (January 1992) Authors: Tupler, R; Bortotto, L; Bühler, E M; Alkan, M; Malik, N J; Bösch-Al Jadooa, N; Memo, L; Maraschio, P Journal: Journal of medical genetics Issue: Volume 29:Issue 1(1992) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗