RICOTTI, ROBERTA
RICOTTI, ROBERTA
Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy
2022 Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features
2018 Ricotti R.; Nardo T.; Striano P.; Stefanini M.; Orioli D.; Botta E.
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
2016 Kuschal C.; Botta E.; Orioli D.; Digiovanna J.J.; Seneca S.; Keymolen K.; Tamura D.; Heller E.; Khan S.G.; Caligiuri G.; Lanzafame M.; Nardo T.; Ricotti R.; Peverali F.A.; Stephens R.; Zhao Y.; Lehmann A.R.; Baranello L.; Levens D.; Kraemer K.; Stefanini M.
Poly (ADP-Ribosylation) and Neoplastic Transformation: Effect of PARP Inhibitors
2013 Dona' F; Chiodi I; Belgiovine C; Raineri T; Ricotti R; Mondello C;Scovassi AI
Super-telomeres in transformed human fibroblasts
2013 Chiodi, I; Belgiovine, C; Zongaro, S; Ricotti, R; Horard, B; Lossani, A; Focher, F; Gilson, E; Giulotto, E; Mondello, C
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene.
2009 Botta E; Nardo T; Orioli D; Guglielmino R; Ricotti R; Bondanza S; Benedicenti F; Zambruno G; Stefanini M.
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
2007 Botta E; Offman J; Nardo T; Ricotti R; Zambruno G; Sansone D; Balestri P; Raams A; Kleijer WJ; Jaspers NG; Sarasin A; Lehmann AR; Stefanini M.
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
2004 Bione S; Rizzolio F; Sala C; Ricotti R; Goegan M; Manzini MC; Battaglia R; Marozzi A; Vegetti W; Dalpra L; Crosignani PG; Ginelli E; Nappi R; Bernabini S; Bruni V; Torricelli F; Zuffardi O; Toniolo D.
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
2003 Vytopil M; Benedetti S; Ricci E; Galluzzi G; Dello Russo A; Merlini L; Boriani G; Gallina M; Morandi L; Politano L; Moggio M;Chiveri L; HausmanovaPetrusewicz I; Ricotti R; Vohanka S; Toman J; Toniolo D.
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
2002 Vytopil M; Ricci E; Dello Russo A; Hanisch F; Neudecker S; Zierz S; Ricotti R; Demay L; Richard P; Wehnert M; Bonne G; Merlini L; Toniolo D.
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy
2001 Vohanka, S; Vytopil, M; Bednarik, J; Lukas, Z; Kadanka, Z; Schildberger, J; Ricotti, R; Bione, S; Toniolo, D
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
2000 Raffaele Di Barletta, M; Ricci, E; Galluzzi, G; Tonali, P; Mora, M; Morandi, L; Romorini, A; Voit, T; Orstavik, Kh; Merlini, L; Trevisan, C; Biancalana, V; Housmanowapetrusewicz, I; Bione, S; Ricotti, R; Schwartz, K; Bonne, G; Toniolo, D
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy | 1-gen-2022 | Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E | |
| Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features | 1-gen-2018 | Ricotti R.; Nardo T.; Striano P.; Stefanini M.; Orioli D.; Botta E. | |
| GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy | 1-gen-2016 | Kuschal C.; Botta E.; Orioli D.; Digiovanna J.J.; Seneca S.; Keymolen K.; Tamura D.; Heller E.; Khan S.G.; Caligiuri G.; Lanzafame M.; Nardo T.; Ricotti R.; Peverali F.A.; Stephens R.; Zhao Y.; Lehmann A.R.; Baranello L.; Levens D.; Kraemer K.; Stefanini M. | |
| Poly (ADP-Ribosylation) and Neoplastic Transformation: Effect of PARP Inhibitors | 1-gen-2013 | Dona' F; Chiodi I; Belgiovine C; Raineri T; Ricotti R; Mondello C;Scovassi AI | |
| Super-telomeres in transformed human fibroblasts | 1-gen-2013 | Chiodi, I; Belgiovine, C; Zongaro, S; Ricotti, R; Horard, B; Lossani, A; Focher, F; Gilson, E; Giulotto, E; Mondello, C | |
| Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. | 1-gen-2009 | Botta E; Nardo T; Orioli D; Guglielmino R; Ricotti R; Bondanza S; Benedicenti F; Zambruno G; Stefanini M. | |
| Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. | 1-gen-2007 | Botta E; Offman J; Nardo T; Ricotti R; Zambruno G; Sansone D; Balestri P; Raams A; Kleijer WJ; Jaspers NG; Sarasin A; Lehmann AR; Stefanini M. | |
| Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. | 1-gen-2004 | Bione S; Rizzolio F; Sala C; Ricotti R; Goegan M; Manzini MC; Battaglia R; Marozzi A; Vegetti W; Dalpra L; Crosignani PG; Ginelli E; Nappi R; Bernabini S; Bruni V; Torricelli F; Zuffardi O; Toniolo D. | |
| Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. | 1-gen-2003 | Vytopil M; Benedetti S; Ricci E; Galluzzi G; Dello Russo A; Merlini L; Boriani G; Gallina M; Morandi L; Politano L; Moggio M;Chiveri L; HausmanovaPetrusewicz I; Ricotti R; Vohanka S; Toman J; Toniolo D. | |
| Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. | 1-gen-2002 | Vytopil M; Ricci E; Dello Russo A; Hanisch F; Neudecker S; Zierz S; Ricotti R; Demay L; Richard P; Wehnert M; Bonne G; Merlini L; Toniolo D. | |
| A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy | 1-gen-2001 | Vohanka, S; Vytopil, M; Bednarik, J; Lukas, Z; Kadanka, Z; Schildberger, J; Ricotti, R; Bione, S; Toniolo, D | |
| Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy | 1-gen-2000 | Raffaele Di Barletta, M; Ricci, E; Galluzzi, G; Tonali, P; Mora, M; Morandi, L; Romorini, A; Voit, T; Orstavik, Kh; Merlini, L; Trevisan, C; Biancalana, V; Housmanowapetrusewicz, I; Bione, S; Ricotti, R; Schwartz, K; Bonne, G; Toniolo, D |