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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
1996-01-01 Meindl, A; Dry, K; Herrmann, K; Manson, F; Ciccodicola, A; Edgar, A; Carvalho, Mrs; Achatz, H; Hellebrand, H; Lennon, A; Migliaccio, C; Porter, K; Zrenner, E; Bird, A; Jay, M; Lorenz, B; Wittwer, B; D'Urso, M; Meitinger, T; Wright, A
A MUSCLE-SPECIFIC DNASE I-LIKE GENE IN HUMAN XQ28
1995-01-01 Parrish, Je; Ciccodicola, A; Wehnert, M; Cox, Gf; Chen, E; Nelson, Dl
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease
2000-01-01 Di Iorio, G; Cappa, V; Ciccodicola, A; Sampaolo, S; Ammendola, A; Sanges, G; Giugliano, R; D'Urso, M
A novel germline mutation in Peroxisome Proliferator-Activated Receptor gamma gene associated with large intestine polyp formation and dyslipidemia
2010-01-01 Capaccio, D; Ciccodicola, A; Sabatino, L; Casamassimi, A; Pancione, M; Fucci, A; Febbraro, A; Merlino, A; Graziano, G; Colantuoni, V
A novel peroxisome proliferator-activated receptor gamma isoform with dominant negative activity generated by alternative splicing
2005-01-01 Sabatino, L; Casamassimi, A; Peluso, G; Barone, Mv; Capaccio, D; Migliore, C; Bonelli, P; Pedicini, A; Febbraro, A; Ciccodicola, A; Colantuoni, V
A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere
1998-01-01 Gianfrancesco, F; Esposito, T; Montanini, L; Ciccodicola, A; Mumm, S; Mazzarella, R; Rao, E; Giglio, S; Rappold, G; Forabosco, A
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases
1999-01-01 Esposito, T; Gianfrancesco, F; Ciccodicola, A; Montanini, L; Mumm, S; D'Urso, M; Forabosco, A
A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation
1996-01-01 D'Esposito, M; Ciccodicola, A; Gianfrancesco, F; Esposito, T; Flagiello, L; Mazzarella, R; Schlessinger, D; D'Urso, M
Alternative Splicing in Adhesion- and Motility-Related Genes in Breast Cancer
2016-01-01 Aversa, R; Sorrentino, A; Esposito, R; Ambrosio, Mr; Amato, A; Zambelli, A; Ciccodicola, A; D'Apice, L; Costa, V.
An extensive search for RFLP in the human Glucose 6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence
1988-01-01 D'Urso, M; Luzzatto, L; Perroni, L; Ciccodicola, A; Gentile, G; Peluso, I; Persico, Mg; Pizzella, T; Toniolo, D; Vulliamy, Tj
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) | 1-gen-1996 | Meindl, A; Dry, K; Herrmann, K; Manson, F; Ciccodicola, A; Edgar, A; Carvalho, Mrs; Achatz, H; Hellebrand, H; Lennon, A; Migliaccio, C; Porter, K; Zrenner, E; Bird, A; Jay, M; Lorenz, B; Wittwer, B; D'Urso, M; Meitinger, T; Wright, A | |
A MUSCLE-SPECIFIC DNASE I-LIKE GENE IN HUMAN XQ28 | 1-gen-1995 | Parrish, Je; Ciccodicola, A; Wehnert, M; Cox, Gf; Chen, E; Nelson, Dl | |
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease | 1-gen-2000 | Di Iorio, G; Cappa, V; Ciccodicola, A; Sampaolo, S; Ammendola, A; Sanges, G; Giugliano, R; D'Urso, M | |
A novel germline mutation in Peroxisome Proliferator-Activated Receptor gamma gene associated with large intestine polyp formation and dyslipidemia | 1-gen-2010 | Capaccio, D; Ciccodicola, A; Sabatino, L; Casamassimi, A; Pancione, M; Fucci, A; Febbraro, A; Merlino, A; Graziano, G; Colantuoni, V | |
A novel peroxisome proliferator-activated receptor gamma isoform with dominant negative activity generated by alternative splicing | 1-gen-2005 | Sabatino, L; Casamassimi, A; Peluso, G; Barone, Mv; Capaccio, D; Migliore, C; Bonelli, P; Pedicini, A; Febbraro, A; Ciccodicola, A; Colantuoni, V | |
A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere | 1-gen-1998 | Gianfrancesco, F; Esposito, T; Montanini, L; Ciccodicola, A; Mumm, S; Mazzarella, R; Rao, E; Giglio, S; Rappold, G; Forabosco, A | |
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases | 1-gen-1999 | Esposito, T; Gianfrancesco, F; Ciccodicola, A; Montanini, L; Mumm, S; D'Urso, M; Forabosco, A | |
A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation | 1-gen-1996 | D'Esposito, M; Ciccodicola, A; Gianfrancesco, F; Esposito, T; Flagiello, L; Mazzarella, R; Schlessinger, D; D'Urso, M | |
Alternative Splicing in Adhesion- and Motility-Related Genes in Breast Cancer | 1-gen-2016 | Aversa, R; Sorrentino, A; Esposito, R; Ambrosio, Mr; Amato, A; Zambelli, A; Ciccodicola, A; D'Apice, L; Costa, V. | |
An extensive search for RFLP in the human Glucose 6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence | 1-gen-1988 | D'Urso, M; Luzzatto, L; Perroni, L; Ciccodicola, A; Gentile, G; Peluso, I; Persico, Mg; Pizzella, T; Toniolo, D; Vulliamy, Tj |
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Opzioni
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Tipologia
- 1 Contributo su Rivista 116
- 1 Contributo su Rivista::1.1 Arti... 116
Data di pubblicazione
- 2020 - 2023 7
- 2010 - 2019 38
- 2000 - 2009 32
- 1990 - 1999 35
- 1988 - 1989 4
Rivista
- HUMAN MOLECULAR GENETICS 9
- GENE 8
- GENOMICS 8
- EUROPEAN JOURNAL OF HUMAN GENETICS 6
- INTERNATIONAL JOURNAL OF MOLECULA... 4
- AMERICAN JOURNAL OF HUMAN GENETICS 3
- DATABASE 3
- INTERNATIONAL JOURNAL OF MOLECULA... 3
- NATURE GENETICS 3
- AMERICAN JOURNAL OF MEDICAL GENETICS 2
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 83
- ita 1
Accesso al fulltext
- no fulltext 116