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Characterization of Retinitis Pigmentosa GTPase (RPGR) regulator gene promoter and identification of a new allele in patients with Retinitis Pigmentosa X-linked
2000-01-01 Miano, Mg; Conte, I; Strazzullo, M; Testa, F; Lanzara, C; Zullo, A; Simonelli, F; D'Urso, M; Wright, Af; Ciccodicola, A
Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients
2007-01-01 Simonelli, F; Ziviello, C; Testa, F; Rossi, S; Fazzi, E; Bianchi, Pe; Fossarello, M; Signorini, S; Bertone, C; Galantuomo, S; Brancati, F; Valente, Em; Ciccodicola, A; Rinaldi, E; Auricchio, A; Banfi, S
Clinical expression of X-linked retinitis pigmentosa in a family with a novel splice defect in the RPGR gene
2001-01-01 Testa, F; Simonelli, F; Norcia, F; Milano, G; Olivieri, C; Danesino, C; Miano, Mg; Ciccodicola, A; Rinaldi, E; Ruberto, G
Clinical features of autosomal dominant retinitis pigmentosa associated with mutation in the NRL gene: Report of an Italian family
2005-01-01 Testa, F; Ziviello, L; Nesti, A; Rinaldi, M; Rossi, S; Ciccodicola, A; Banfi, S
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families
2003-01-01 Simonelli, F; Cennamo, G; Ziviello, C; Testa, F; de Crecchio, G; Nesti, A; Manitto, Mp; Ciccodicola, A; Banfi, S; Brancato, R; Rinaldi, E
Clinical findings in an autosomal dominant Italian family with mutation in the RP1 gene
2005-01-01 Simonelli, Ff; Ziviello, L; Testa, F; Nesti, A; Rinaldi, M; Rossi, S; Di Iorio, V; Banfi, S; Ciccodicola, A
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene
2006-01-01 Testa, F; Ziviello, C; Rinaldi, M; Rossi, S; Di Iorio, V; Interlandi, E; Ciccodicola, A; Banfi, S; Simonelli, F
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse
1998-01-01 Lorenz, B; Migliaccio, C; Lichtner, P; Meyer, C; Strom, Tm; D'Urso, M; Becker, J; Ciccodicola, A; Meitinger, T
CLONING OF THE FRAGILE-X LOCUS IN THE CONTEXT OF YEAST ARTIFICIAL CHROMOSOME-BASED MAPPING OF XQ24-28
1991-01-01 Schlessinger, D; Zucchi, I; Nagaraja, R; Little, Rd; Abidi, F; Freije, D; Pilia, G; Porta, G; Yoon, Jy; Johnson, Sk; Palmieri, G; Montanaro, V; Romano, G; Casamassimi, A; Ciccodicola, A; Durso, M
Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family
1999-01-01 Rozzo, C; Fossarello, M; Galleri, G; Miano, Mg; Ciccodicola, A; Sole, G; Pirastu, M
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Characterization of Retinitis Pigmentosa GTPase (RPGR) regulator gene promoter and identification of a new allele in patients with Retinitis Pigmentosa X-linked | 1-gen-2000 | Miano, Mg; Conte, I; Strazzullo, M; Testa, F; Lanzara, C; Zullo, A; Simonelli, F; D'Urso, M; Wright, Af; Ciccodicola, A | |
Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients | 1-gen-2007 | Simonelli, F; Ziviello, C; Testa, F; Rossi, S; Fazzi, E; Bianchi, Pe; Fossarello, M; Signorini, S; Bertone, C; Galantuomo, S; Brancati, F; Valente, Em; Ciccodicola, A; Rinaldi, E; Auricchio, A; Banfi, S | |
Clinical expression of X-linked retinitis pigmentosa in a family with a novel splice defect in the RPGR gene | 1-gen-2001 | Testa, F; Simonelli, F; Norcia, F; Milano, G; Olivieri, C; Danesino, C; Miano, Mg; Ciccodicola, A; Rinaldi, E; Ruberto, G | |
Clinical features of autosomal dominant retinitis pigmentosa associated with mutation in the NRL gene: Report of an Italian family | 1-gen-2005 | Testa, F; Ziviello, L; Nesti, A; Rinaldi, M; Rossi, S; Ciccodicola, A; Banfi, S | |
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families | 1-gen-2003 | Simonelli, F; Cennamo, G; Ziviello, C; Testa, F; de Crecchio, G; Nesti, A; Manitto, Mp; Ciccodicola, A; Banfi, S; Brancato, R; Rinaldi, E | |
Clinical findings in an autosomal dominant Italian family with mutation in the RP1 gene | 1-gen-2005 | Simonelli, Ff; Ziviello, L; Testa, F; Nesti, A; Rinaldi, M; Rossi, S; Di Iorio, V; Banfi, S; Ciccodicola, A | |
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene | 1-gen-2006 | Testa, F; Ziviello, C; Rinaldi, M; Rossi, S; Di Iorio, V; Interlandi, E; Ciccodicola, A; Banfi, S; Simonelli, F | |
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse | 1-gen-1998 | Lorenz, B; Migliaccio, C; Lichtner, P; Meyer, C; Strom, Tm; D'Urso, M; Becker, J; Ciccodicola, A; Meitinger, T | |
CLONING OF THE FRAGILE-X LOCUS IN THE CONTEXT OF YEAST ARTIFICIAL CHROMOSOME-BASED MAPPING OF XQ24-28 | 1-gen-1991 | Schlessinger, D; Zucchi, I; Nagaraja, R; Little, Rd; Abidi, F; Freije, D; Pilia, G; Porta, G; Yoon, Jy; Johnson, Sk; Palmieri, G; Montanaro, V; Romano, G; Casamassimi, A; Ciccodicola, A; Durso, M | |
Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family | 1-gen-1999 | Rozzo, C; Fossarello, M; Galleri, G; Miano, Mg; Ciccodicola, A; Sole, G; Pirastu, M |
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Opzioni
Scopri
Tipologia
- 1 Contributo su Rivista 165
- 1 Contributo su Rivista::1.1 Arti... 116
- 1 Contributo su Rivista::1.5 Abst... 49
- 2 Contributo in Volume 15
- 2 Contributo in Volume::2.1 Contr... 13
- 2 Contributo in Volume::2.5 Tradu... 2
Data di pubblicazione
- 2020 - 2023 10
- 2010 - 2019 52
- 2000 - 2009 64
- 1990 - 1999 48
- 1987 - 1989 6
Editore
- Piccin Nuova Libraria S.p.A. 5
- UTET 5
- Academic Press (Elsevier 1
- CRC Press 1
- NOVA SCIENCE PUBLISHERS 1
- PICCIN NUOVA LIBRARIA 1
- Piccini Nuova Libraria 1
Rivista
- AMERICAN JOURNAL OF HUMAN GENETICS 14
- INVESTIGATIVE OPHTHALMOLOGY & VIS... 12
- DIABETOLOGIA 11
- HUMAN MOLECULAR GENETICS 9
- GENE 8
- GENOMICS 8
- EUROPEAN JOURNAL OF HUMAN GENETICS 7
- CYTOGENETICS AND CELL GENETICS 6
- INTERNATIONAL JOURNAL OF MOLECULA... 4
- DATABASE 3
Keyword
- Genetic 4
- Animals 3
- Humans 3
- RNA-Sequencing 3
- RNA-sequencing 3
- alternative splicing 2
- Databases 2
- dominant-negative isoform 2
- Gene Expression Regulation 2
- Inflammation 2
Lingua
- eng 122
- ita 13
Accesso al fulltext
- no fulltext 180