Sfoglia per ???browse.type.metadata.subjectErc2011???
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes.
2012 Redin, C; Le Gras, S.; Mhamdi, O; Geoffroy, V; Stoetzel, C; Vincent, Mc; Chiurazzi, Pietro; Lacombe, D; Ouertani, I; Petit, F; Till, M; Verloes, A; Jost, B; Chaabouni, Hb; Dollfus, H; Mandel, Jl; Muller, J.
The analysis of variation of mtDNA hypervariable region 1 suggests that Eastern and Western Pygmies diverged before the Bantu expansion
2004 Destro Bisol, G; Coia, Valentina; Boschi, Ilaria; Verginelli, F; Caglià, A; Pascali, Vincenzo Lorenzo; Spedini, G; Calafell, F.
The dark side of the UK national database
2003 Pascali, Vincenzo Lorenzo; Lago, Giampietro; Dobosz, Marina
The etruscan timeline: a recent Anatolian: a recent connection.
2009 Brisighelli, Francesca; Capelli, Cristian; Alvarez Iglesias, V; Onofri, V; Paoli, G; Tofanelli, S; Carracedo, A; Pascali, Vincenzo Lorenzo; Salas, A.
The Kruppel-like factor 6 genotype is associated with fibrosis in nonalcoholic fatty liver disease
2008 Miele, Luca; Beale, G; Patman, G; Nobili, V; Leathart, J; Grieco, Antonio; Abate, M; Friedman, Sl; Narla, G; Bugianesi, E; Day, Cp; Reeves, Hl
The use of DNA fingerprinting for medicolegal investigations in forensic identification [APPLICAZIONE DELLA METODOLOGIA DEL DNA FINGERPRINTING ALLE INDAGINI MEDICO-LEGALI DI IDENTIFICAZIONE PERSONALE. USO DELLA SONDA MOLECOLARE 3' HVR]
1989 Fiori, Angelo; D'Aloja, Ernesto; Dobosz, Marina; Destro Bisol, G; Pascali, Vincenzo Lorenzo
The use of immobilized pH gradients for the detection of human polymorphisms in the forensic identification of bloodstains
1992 Munoz Barus, I; Carracedo, A; Pascali, Vincenzo Lorenzo
Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed?
2020 Denis Horgan, 1; Barbara Moss, 2 3; Boccia, Stefania; Genuardi, Maurizio; Maciej Gajewski, 8; Gabriele Capurso, 9; Pierre Fenaux 10, 11; Beatrice Gulbis 11, 12; Mariangela Pellegrini 11, 13; Maria Del Mar Mañú Pereira 11, 14; Victoria Gutiérrez Valle 11, 14; Iñaki Gutiérrez Ibarluzea 15, 16; Alastair Kent, 17; Ivana Cattaneo, 18; Beata Jagielska, 19; Ivica Belina, 20; Birute Tumiene, 21; Adrian Ward, 22; Marisa Papaluca, 23
Transcriptome profiling of soybean (Glycine max) roots challenged with pathogenic and non-pathogenic isolates of Fusarium oxysporum.
2015 Lanubile, Alessandra; Muppirala, Usha; Severin, Andrew; Marocco, Adriano; Munkvold, Gary
Transferrin and infertility. Genetic-clinical investigations [TRANSFERRINA ED INFERTILITA: INDAGINE GENETICO-CLINICA. NOTA PRELIMINARE]
1985 Del Porto, G; Donnini, R; Baldi, M; Pascali, Vincenzo Lorenzo
Transferrin C subtypes in extremely premature newborn infants
1982 Auconi, P; Biagini, R; Colarizi, P; Pascali, Vincenzo Lorenzo
Transferrin subtypes in cystic fibrosis
1984 Pascali, Vincenzo Lorenzo; Bravo, E; Auconi, P.
Transferrin: Common and rare variants in Italy. Evidence for the existence of the rare Tf(C)6 among Caucasians
1983 Pascali, Vincenzo Lorenzo; Auconi, P.
Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys.
2010 Neri, Giovanni; Torrioli, Maria Giulia; Vernacotola, Silvia; Setini, C.; Bevilacqua, F.; Martinelli, D.; Snape, M.; Hutchison, J. A; Di Raimo, Francesca Romana; Tabolacci, Elisabetta
Unusual transferrin TF*D mutants in some Congo populations
1987 Pascali, Vincenzo Lorenzo; Dobosz, Marina; Spedini, G.
Use of an expressed sequence tag-based method for single nucleotide polymorphism identification and discrimination of Citrus species and cultivars
2013 Marocco, Adriano; Bernardi, Jamila; Mazza, Raffaele; Caruso, Paola; Reforgiato Recupero, Giuseppe; Licciardello, Concetta
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
2022 Francesca Forzano, 1; Olga Antonova, 2; Angus Clarke, 3; Guido de Wert, 4; Sabine Hentze, 5; Yalda Jamshidi, 6; Yves Moreau, 7; Markus Perola, 8; Inga Prokopenko, 9 10 11; Andrew Read, 12; Alexandre Reymond, 13; Vigdis Stefansdottir, 14; Carla van El, 15; Genuardi, M.; 16, 17; Executive Committee of the European Society of Human, Genetics; Public and Professional Policy Committee of the European Society of Human, Genetics
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
2022 Lucci-Cordisco, E.; Amenta, S.; Panfili, A.; Del Valle, J.; Capellá, G.; Pineda, M.; Genuardi, M.
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
2021 Genuardi, Maurizio; International Mismatch Repair, Consortium
West syndrome associated with 14q12 duplications harboring FOXG1
2011 Striano, P; Paravidino, R; Sicca, F; Chiurazzi, Pietro; Gimelli, S; Coppola, A; Robbiano, A; Traverso, M; Pintaudi, M; Giovannini, S; Operto, F; Vigliano, P; Granata, T; Coppola, G; Romeo, A; Specchio, N; Giordano, L; Osborne, Lr; Gimelli, G; Minetti, C; Zara, F.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2012 | Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes. | Redin, C; Le Gras, S.; Mhamdi, O; Geoffroy, V; Stoetzel, C; Vincent, Mc; Chiurazzi, Pietro; Lacombe, D; Ouertani, I; Petit, F; Till, M; Verloes, A; Jost, B; Chaabouni, Hb; Dollfus, H; Mandel, Jl; Muller, J. | |
1-gen-2004 | The analysis of variation of mtDNA hypervariable region 1 suggests that Eastern and Western Pygmies diverged before the Bantu expansion | Destro Bisol, G; Coia, Valentina; Boschi, Ilaria; Verginelli, F; Caglià, A; Pascali, Vincenzo Lorenzo; Spedini, G; Calafell, F. | |
1-gen-2003 | The dark side of the UK national database | Pascali, Vincenzo Lorenzo; Lago, Giampietro; Dobosz, Marina | |
1-gen-2009 | The etruscan timeline: a recent Anatolian: a recent connection. | Brisighelli, Francesca; Capelli, Cristian; Alvarez Iglesias, V; Onofri, V; Paoli, G; Tofanelli, S; Carracedo, A; Pascali, Vincenzo Lorenzo; Salas, A. | |
1-gen-2008 | The Kruppel-like factor 6 genotype is associated with fibrosis in nonalcoholic fatty liver disease | Miele, Luca; Beale, G; Patman, G; Nobili, V; Leathart, J; Grieco, Antonio; Abate, M; Friedman, Sl; Narla, G; Bugianesi, E; Day, Cp; Reeves, Hl | |
1-gen-1989 | The use of DNA fingerprinting for medicolegal investigations in forensic identification [APPLICAZIONE DELLA METODOLOGIA DEL DNA FINGERPRINTING ALLE INDAGINI MEDICO-LEGALI DI IDENTIFICAZIONE PERSONALE. USO DELLA SONDA MOLECOLARE 3' HVR] | Fiori, Angelo; D'Aloja, Ernesto; Dobosz, Marina; Destro Bisol, G; Pascali, Vincenzo Lorenzo | |
1-gen-1992 | The use of immobilized pH gradients for the detection of human polymorphisms in the forensic identification of bloodstains | Munoz Barus, I; Carracedo, A; Pascali, Vincenzo Lorenzo | |
1-gen-2020 | Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed? | Denis Horgan, 1; Barbara Moss, 2 3; Boccia, Stefania; Genuardi, Maurizio; Maciej Gajewski, 8; Gabriele Capurso, 9; Pierre Fenaux 10, 11; Beatrice Gulbis 11, 12; Mariangela Pellegrini 11, 13; Maria Del Mar Mañú Pereira 11, 14; Victoria Gutiérrez Valle 11, 14; Iñaki Gutiérrez Ibarluzea 15, 16; Alastair Kent, 17; Ivana Cattaneo, 18; Beata Jagielska, 19; Ivica Belina, 20; Birute Tumiene, 21; Adrian Ward, 22; Marisa Papaluca, 23 | |
1-gen-2015 | Transcriptome profiling of soybean (Glycine max) roots challenged with pathogenic and non-pathogenic isolates of Fusarium oxysporum. | Lanubile, Alessandra; Muppirala, Usha; Severin, Andrew; Marocco, Adriano; Munkvold, Gary | |
1-gen-1985 | Transferrin and infertility. Genetic-clinical investigations [TRANSFERRINA ED INFERTILITA: INDAGINE GENETICO-CLINICA. NOTA PRELIMINARE] | Del Porto, G; Donnini, R; Baldi, M; Pascali, Vincenzo Lorenzo | |
1-gen-1982 | Transferrin C subtypes in extremely premature newborn infants | Auconi, P; Biagini, R; Colarizi, P; Pascali, Vincenzo Lorenzo | |
1-gen-1984 | Transferrin subtypes in cystic fibrosis | Pascali, Vincenzo Lorenzo; Bravo, E; Auconi, P. | |
1-gen-1983 | Transferrin: Common and rare variants in Italy. Evidence for the existence of the rare Tf(C)6 among Caucasians | Pascali, Vincenzo Lorenzo; Auconi, P. | |
1-gen-2010 | Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys. | Neri, Giovanni; Torrioli, Maria Giulia; Vernacotola, Silvia; Setini, C.; Bevilacqua, F.; Martinelli, D.; Snape, M.; Hutchison, J. A; Di Raimo, Francesca Romana; Tabolacci, Elisabetta | |
1-gen-1987 | Unusual transferrin TF*D mutants in some Congo populations | Pascali, Vincenzo Lorenzo; Dobosz, Marina; Spedini, G. | |
1-gen-2013 | Use of an expressed sequence tag-based method for single nucleotide polymorphism identification and discrimination of Citrus species and cultivars | Marocco, Adriano; Bernardi, Jamila; Mazza, Raffaele; Caruso, Paola; Reforgiato Recupero, Giuseppe; Licciardello, Concetta | |
1-gen-2022 | The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice | Francesca Forzano, 1; Olga Antonova, 2; Angus Clarke, 3; Guido de Wert, 4; Sabine Hentze, 5; Yalda Jamshidi, 6; Yves Moreau, 7; Markus Perola, 8; Inga Prokopenko, 9 10 11; Andrew Read, 12; Alexandre Reymond, 13; Vigdis Stefansdottir, 14; Carla van El, 15; Genuardi, M.; 16, 17; Executive Committee of the European Society of Human, Genetics; Public and Professional Policy Committee of the European Society of Human, Genetics | |
1-gen-2022 | Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? | Lucci-Cordisco, E.; Amenta, S.; Panfili, A.; Del Valle, J.; Capellá, G.; Pineda, M.; Genuardi, M. | |
1-gen-2021 | Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study | Genuardi, Maurizio; International Mismatch Repair, Consortium | |
1-gen-2011 | West syndrome associated with 14q12 duplications harboring FOXG1 | Striano, P; Paravidino, R; Sicca, F; Chiurazzi, Pietro; Gimelli, S; Coppola, A; Robbiano, A; Traverso, M; Pintaudi, M; Giovannini, S; Operto, F; Vigliano, P; Granata, T; Coppola, G; Romeo, A; Specchio, N; Giordano, L; Osborne, Lr; Gimelli, G; Minetti, C; Zara, F. |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile