STEFANINI, MIRIA
STEFANINI, MIRIA
Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"
3 UNUSUAL REPAIR DEFICIENCIES ASSOCIATED WITH TRANSCRIPTION FACTOR BTF2(TFIIH) - EVIDENCE FOR THE EXISTENCE OF A TRANSCRIPTION SYNDROME
1994 Vermeulen, W; Vanvuuren, Aj; Chipoulet, M; Schaeffer, L; Appeldoorn, E; Weeda, G; Jaspers, Ngj; Priestley, A; Arlett, Cf; Lehmann, Ar; Stefanini, M; Mezzina, M; Sarasin, A; Bootsma, D; Egly, Jm; Hoeijmakers, Jhj
A CHO mutant, UV40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity
1996 Bush, Db; Zdzienicka, M; Natarajan, At; Jones, Nj; Overkamps, Wij; Collins, A; Mitchell, D; Stefanini, M; Botta, E; Bliss, Ar; Liu, N; White, D; van Gool, Aj; Thompson, Lh
A founder XPD mutation among Iraqi Jews causes mild sun sensitivity: Estimation of the most recent common ancestor. Conference on Responses to DNA damage: from molecular mechanism to human disease
2011 Falikzaccai, Tc; Orgal, S; Keren, Z; Koka, S; Bittermann Deutch, O; Azizi, E; Pavlotzki, F; Yaniv, R; Korostishevsky, M; Kraemer, Kh; Stefanini, M; Hanawalt, Pc; Spivak, G; Slor, H
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy
1993 Stefanini, M; Vermeulen, W; Weeda, G; Giliani, S; Nardo, T; Mezzina, M; Sarasin, A; Harper, J I; Arlett, C F; Hoeijmakers, J H J; Lehmann, A R
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
2004 Gigliamari, G; Coin, F; Ranish, Aj; Hoogstraten, D; Theil, A; Wijgers, N; Jaspers, Ngj; Raams, A; Argentini, M; van der Spek, Pj; Botta, E; Stefanini, M; Egly, Jm; Aebersold, R; Hoeijmakers, Jhj; Vermeulen, W
A newly identified XP-E patient has mutation in DDB1-docking motif and impaired UV-DDB-based ubiquitin ligase activity
2009 Rapicotrin, V; Guerrerosantoro, J; Nardo, T; Yeh, J; Levine, As; Stefanini, M
A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma
2006 Sidwell, RU; Sandison, A; Wing, J; Fawcett, HD; Seet, JE; Fisher, C; Nardo, T; Stefanini, M; Lehmann, AR; Cream, JJ
A novel mutation in XPD causing temperature-dependent aggravation of TFIIH stability and activities in a patient affected by trichothiodystrophy
2008 Lanzafame, M; Botta, E; Nardo, T; Pantaleoni, C; Stefanini, M
A novel mutation in XPD causing temperature-dependent dysfunction of the transcription/repair complex TFIIH
2008 Lanzafame, M; Botta, E; Nardo, T; Pantaleoni, C; Stefanini, M
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
2001 Gozukara EM; Khan SG; Metin A; Emmert S; Busch DB; Shahlavi T; Coleman DM; Miller M; Chinsomboon N; Stefanini M; Kraemer KH.
A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene
2008 Nardo T; Oneda R; Spivak G; Mortier L; Thomas P; Orioli D; Laugel V; Stary A; Hanawalt PC; Sarasin A; Stefanini M
A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene
2008 Nardo T; Oneda R; Spivak G; Vaz B; Mortier L; Thomas P; Orioli D; Laugel V; Stary A; Hanawalt PC; Sarasin A; Stefanini M
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage
2009 Nardo, T; Oneda, R; Spivak, G; Vaz, B Mortier L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A; Stefanini, M
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage
2009 Nardo, T; Oneda, R; Spivak, G; Vaz, B Mortier L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A; Stefanini, M
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage
2009 Spivak, G; Mortier, L; Hanawalt, Pc; Sarasin, A; Stefanini, M
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage
2009 Spivak, G; Nardo, T; Oneda, R; Vaz, B Mortier L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A; Stefanini, M
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage
2009 Spivak, G; Nardo, T; Oneda, R; Vaz, B Mortier L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A; Stefanini, M
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.
1997 Tupler R; Marseglia GL; Stefanini M; Prosperi E; Chessa L; Nardo T; Marchi A; Maraschio P.
Activation-inactivation of ADPRT of mammalian cells exposed to DNA damaging agents.
1989 Scovassi A.I.; Stefanini M.; Izzo R.; Lagomarsini P.; Bertazzoni U
ACTIVITY GELS OF POLY-ADP-RIBOSE POLYMERASE PHYLOGENETIC STUDIES AND VARIATIONS IN HUMAN BLOOD CELLS
1985 Scovassi, A I; Franchi, E; Isernia, P; Brusamolino, E; Stefanini, M; Bertazzoni, U
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 3 UNUSUAL REPAIR DEFICIENCIES ASSOCIATED WITH TRANSCRIPTION FACTOR BTF2(TFIIH) - EVIDENCE FOR THE EXISTENCE OF A TRANSCRIPTION SYNDROME | 1-gen-1994 | Vermeulen, W; Vanvuuren, Aj; Chipoulet, M; Schaeffer, L; Appeldoorn, E; Weeda, G; Jaspers, Ngj; Priestley, A; Arlett, Cf; Lehmann, Ar; Stefanini, M; Mezzina, M; Sarasin, A; Bootsma, D; Egly, Jm; Hoeijmakers, Jhj | |
| A CHO mutant, UV40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity | 1-gen-1996 | Bush, Db; Zdzienicka, M; Natarajan, At; Jones, Nj; Overkamps, Wij; Collins, A; Mitchell, D; Stefanini, M; Botta, E; Bliss, Ar; Liu, N; White, D; van Gool, Aj; Thompson, Lh | |
| A founder XPD mutation among Iraqi Jews causes mild sun sensitivity: Estimation of the most recent common ancestor. Conference on Responses to DNA damage: from molecular mechanism to human disease | 1-gen-2011 | Falikzaccai, Tc; Orgal, S; Keren, Z; Koka, S; Bittermann Deutch, O; Azizi, E; Pavlotzki, F; Yaniv, R; Korostishevsky, M; Kraemer, Kh; Stefanini, M; Hanawalt, Pc; Spivak, G; Slor, H | |
| A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy | 1-gen-1993 | Stefanini, M; Vermeulen, W; Weeda, G; Giliani, S; Nardo, T; Mezzina, M; Sarasin, A; Harper, J I; Arlett, C F; Hoeijmakers, J H J; Lehmann, A R | |
| A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A | 1-gen-2004 | Gigliamari, G; Coin, F; Ranish, Aj; Hoogstraten, D; Theil, A; Wijgers, N; Jaspers, Ngj; Raams, A; Argentini, M; van der Spek, Pj; Botta, E; Stefanini, M; Egly, Jm; Aebersold, R; Hoeijmakers, Jhj; Vermeulen, W | |
| A newly identified XP-E patient has mutation in DDB1-docking motif and impaired UV-DDB-based ubiquitin ligase activity | 1-gen-2009 | Rapicotrin, V; Guerrerosantoro, J; Nardo, T; Yeh, J; Levine, As; Stefanini, M | |
| A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma | 1-gen-2006 | Sidwell, RU; Sandison, A; Wing, J; Fawcett, HD; Seet, JE; Fisher, C; Nardo, T; Stefanini, M; Lehmann, AR; Cream, JJ | |
| A novel mutation in XPD causing temperature-dependent aggravation of TFIIH stability and activities in a patient affected by trichothiodystrophy | 1-gen-2008 | Lanzafame, M; Botta, E; Nardo, T; Pantaleoni, C; Stefanini, M | |
| A novel mutation in XPD causing temperature-dependent dysfunction of the transcription/repair complex TFIIH | 1-gen-2008 | Lanzafame, M; Botta, E; Nardo, T; Pantaleoni, C; Stefanini, M | |
| A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. | 1-gen-2001 | Gozukara EM; Khan SG; Metin A; Emmert S; Busch DB; Shahlavi T; Coleman DM; Miller M; Chinsomboon N; Stefanini M; Kraemer KH. | |
| A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene | 1-gen-2008 | Nardo T; Oneda R; Spivak G; Mortier L; Thomas P; Orioli D; Laugel V; Stary A; Hanawalt PC; Sarasin A; Stefanini M | |
| A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene | 1-gen-2008 | Nardo T; Oneda R; Spivak G; Vaz B; Mortier L; Thomas P; Orioli D; Laugel V; Stary A; Hanawalt PC; Sarasin A; Stefanini M | |
| A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage | 1-gen-2009 | Nardo, T; Oneda, R; Spivak, G; Vaz, B Mortier L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A; Stefanini, M | |
| A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage | 1-gen-2009 | Nardo, T; Oneda, R; Spivak, G; Vaz, B Mortier L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A; Stefanini, M | |
| A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage | 1-gen-2009 | Spivak, G; Mortier, L; Hanawalt, Pc; Sarasin, A; Stefanini, M | |
| A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage | 1-gen-2009 | Spivak, G; Nardo, T; Oneda, R; Vaz, B Mortier L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A; Stefanini, M | |
| A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage | 1-gen-2009 | Spivak, G; Nardo, T; Oneda, R; Vaz, B Mortier L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A; Stefanini, M | |
| A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. | 1-gen-1997 | Tupler R; Marseglia GL; Stefanini M; Prosperi E; Chessa L; Nardo T; Marchi A; Maraschio P. | |
| Activation-inactivation of ADPRT of mammalian cells exposed to DNA damaging agents. | 1-gen-1989 | Scovassi A.I.; Stefanini M.; Izzo R.; Lagomarsini P.; Bertazzoni U | |
| ACTIVITY GELS OF POLY-ADP-RIBOSE POLYMERASE PHYLOGENETIC STUDIES AND VARIATIONS IN HUMAN BLOOD CELLS | 1-gen-1985 | Scovassi, A I; Franchi, E; Isernia, P; Brusamolino, E; Stefanini, M; Bertazzoni, U |