Sfoglia per ???browse.type.metadata.subjectErc2011???
Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia
2003 Lastella, Patrizia; Sabba', Carlo; Lenato, Gennaro Maria; Resta, Nicoletta; Lattanzi, Wanda; Gallitelli, Mauro; Cirulli, Annalisa; Guanti, Ginevra
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
2015 Van Der Velde, Kj; Kuiper, J; Thompson, Ba; Plazzer, Jp; Van Valkenhoef, G; De Haan, M; Jongbloed, Jd; Wijmenga, C; De Koning, Tj; Abbott, Km; Sinke, R; Spurdle, Ab; Macrae, F; Genuardi, Maurizio; Sijmons, Rh; Swertz, Ma
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
2012 Crawford, To; Paushkin, Sv; Kobayashi, Dt; Forrest, Sj; Joyce, Cl; Finkel, Rs; Kaufmann, P; Swoboda, Kj; Tiziano, Francesco Danilo; Lomastro, Rosa; Li, Rh; Trachtenberg, Fl; Plasterer, T; Chen, Ks
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
1996 Brahe, Cristina Beate; Clermont, O; Zappata, S; Tiziano, Francesco Danilo; Melki, J; Neri, Giovanni
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.
2018 Ravegnini, G; Quero, Giuseppe; Sammarini, G; Giustiniani, Maria Cristina; Castri, Federica; Pomponi, Maria Grazia; Angelini, S; Alfieri, Sergio; Genuardi, Maurizio; Zamboni, G; Ricci, R.
Gene targeting restricted to mouse striated muscle lineage.
1999 Miniou, P; Tiziano, Francesco Danilo; Frugier, T; Roblot, N; Le, Meur; M, Melki
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians
2013 Sijmons, R; Greenblatt, M; Genuardi, Maurizio
Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy
2015 Sciandra, Francesca; Bigotti, Maria Giulia; Giardina, Bruno; Bozzi, Manuela; Brancaccio, Andrea
HIV-1 non-R5 tropism correlates with a larger size of the cellular viral reservoir and a detectable residual viremia in patients under suppressive ART
2018 Lombardi, Francesca; Belmonti, Simone; Rapone, Lucrezia; Borghetti, Alberto; Ciccullo, Arturo; Gagliardini, Roberta; Baldin, Gianmaria; Montagnani, Francesca; Moschese, Davide; Emiliozzi, Arianna; Rossetti, Barbara; De Luca, Andrea; Di Giambenedetto, Simona
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes
2014 Le Ber, I; Van Bortel, I; Nicolas, G; Bouya Ahmed, K; Camuzat, A; Wallon, D; De Septenville, A; Latouche, M; Lattante, Serena; Kabashi, E; Jornea, L; Hannequin, D; Brice, A.
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia
2014 Le Ber, I; De Septenville, A; Guerreiro, R; Bras, J; Camuzat, A; Caroppo, P; Lattante, Serena; Couarch, P; Kabashi, E; Bouya Ahmed, K; Dubois, B; Brice, A.
Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor
2014 Gasparotto, D; Rossi, S; Campagna, D; Scavina, P; Tiziano, Francesco Danilo; Marzotto, A; Toffolatti, L; Vitelli, Ce; Amini, M; Dei Tos, Ap; Maestro, R.
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
2021 Tabolacci, Elisabetta; Molinario, C; Marangi, Giuseppe; Nobile, Veronica; Arena, Vincenzo; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, Milena; Costa, S; Vento, Giovanni; Genuardi, Maurizio
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2
2009 Neilson, De; Adams, Md; Orr, Cmd; Schelling, Dk; Eiben, Rm; Kerr, Ds; Anderson, J; Bassuk, Ag; Bye, Am; Childs, A; Clarke, A; Crow, Yj; Di Rocco, M; Dohna Schwake, C; Dueckers, G; Fasano, Ae; Gika, Ad; Gionnis, D; Gorman, Mp; Grattan Smith, Pj; Hackenberg, A; Kuster, A; Lentschig, Mg; Lopez Laso, E; Marco, Ej; Mastroyianni, S; Perrier, J; Schmitt Mechelke, T; Servidei, Serenella; Skardoutsou, A; Uldall, P; Van Der Knaap, Ms; Goglin, Kc; Tefft, Dl; Aubin, C; De Jager, P; Hafler, D; Warman, Ml
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
2015 Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Mercuri, Eugenio Maria; Stefanini, Mc; Caumes, R; Edery, P; Rossi, M; Piccione, M; Corsello, G; Della Monica, M; Scarano, F; Priolo, M; Gentile, M; Zampino, Giuseppe; Vijzelaar, R; Abdulrahman, O; Rauch, A; Oneda, B; Deardorff, Ma; Saitta, Sc; Falk, Mj; Dubbs, H; Zackai, E.
Lim mineralization protein is involved in the premature calvarial ossification in sporadic craniosynostoses
2013 Lattanzi, Wanda; Barba, Marta; Novegno, Federica; Massimi, Luca; Tesori, Valentina; Tamburrini, Gianpiero; Galgano, Salvatore; Bernardini, Camilla; Caldarelli, Massimo; Michetti, Fabrizio; Di Rocco, Concezio
Lim mineralization protein is involved in the premature calvarial ossification in sporadic craniosynostoses
2013 Lattanzi, Wanda; Barba, Marta; Novegno, Federica; Massimi, Luca; Tesori, Valentina; Tamburrini, Gianpiero; Galgano, Salvatore; Bernardini, Camilla; Caldarelli, Massimo; Michetti, Fabrizio; Di Rocco, Concezio
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients.
2014 Chiurazzi, Pietro
Molecular pathology in forensic medicine--Introduction.
2010 Madea, Burkhard; Saukko, Pekka; Oliva, Antonio; Musshoff, D.
Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
2001 Puccio, H; Simon, D; Cossée, M; Criqui Filipe, P; Tiziano, Francesco Danilo; Melki, J; Hindelang, C; Matyas, R; Koenig, M.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2003 | Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia | Lastella, Patrizia; Sabba', Carlo; Lenato, Gennaro Maria; Resta, Nicoletta; Lattanzi, Wanda; Gallitelli, Mauro; Cirulli, Annalisa; Guanti, Ginevra | |
| 1-gen-2015 | Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. | Van Der Velde, Kj; Kuiper, J; Thompson, Ba; Plazzer, Jp; Van Valkenhoef, G; De Haan, M; Jongbloed, Jd; Wijmenga, C; De Koning, Tj; Abbott, Km; Sinke, R; Spurdle, Ab; Macrae, F; Genuardi, Maurizio; Sijmons, Rh; Swertz, Ma | |
| 1-gen-2012 | Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study | Crawford, To; Paushkin, Sv; Kobayashi, Dt; Forrest, Sj; Joyce, Cl; Finkel, Rs; Kaufmann, P; Swoboda, Kj; Tiziano, Francesco Danilo; Lomastro, Rosa; Li, Rh; Trachtenberg, Fl; Plasterer, T; Chen, Ks | |
| 1-gen-1996 | Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I | Brahe, Cristina Beate; Clermont, O; Zappata, S; Tiziano, Francesco Danilo; Melki, J; Neri, Giovanni | |
| 1-gen-2018 | Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. | Ravegnini, G; Quero, Giuseppe; Sammarini, G; Giustiniani, Maria Cristina; Castri, Federica; Pomponi, Maria Grazia; Angelini, S; Alfieri, Sergio; Genuardi, Maurizio; Zamboni, G; Ricci, R. | |
| 1-gen-1999 | Gene targeting restricted to mouse striated muscle lineage. | Miniou, P; Tiziano, Francesco Danilo; Frugier, T; Roblot, N; Le, Meur; M, Melki | |
| 1-gen-2013 | Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians | Sijmons, R; Greenblatt, M; Genuardi, Maurizio | |
| 1-gen-2015 | Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy | Sciandra, Francesca; Bigotti, Maria Giulia; Giardina, Bruno; Bozzi, Manuela; Brancaccio, Andrea | |
| 1-gen-2018 | HIV-1 non-R5 tropism correlates with a larger size of the cellular viral reservoir and a detectable residual viremia in patients under suppressive ART | Lombardi, Francesca; Belmonti, Simone; Rapone, Lucrezia; Borghetti, Alberto; Ciccullo, Arturo; Gagliardini, Roberta; Baldin, Gianmaria; Montagnani, Francesca; Moschese, Davide; Emiliozzi, Arianna; Rossetti, Barbara; De Luca, Andrea; Di Giambenedetto, Simona | |
| 1-gen-2014 | hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes | Le Ber, I; Van Bortel, I; Nicolas, G; Bouya Ahmed, K; Camuzat, A; Wallon, D; De Septenville, A; Latouche, M; Lattante, Serena; Kabashi, E; Jornea, L; Hannequin, D; Brice, A. | |
| 1-gen-2014 | Homozygous TREM2 mutation in a family with atypical frontotemporal dementia | Le Ber, I; De Septenville, A; Guerreiro, R; Bras, J; Camuzat, A; Caroppo, P; Lattante, Serena; Couarch, P; Kabashi, E; Bouya Ahmed, K; Dubois, B; Brice, A. | |
| 1-gen-2014 | Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor | Gasparotto, D; Rossi, S; Campagna, D; Scavina, P; Tiziano, Francesco Danilo; Marzotto, A; Toffolatti, L; Vitelli, Ce; Amini, M; Dei Tos, Ap; Maestro, R. | |
| 1-gen-2021 | Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization | Tabolacci, Elisabetta; Molinario, C; Marangi, Giuseppe; Nobile, Veronica; Arena, Vincenzo; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, Milena; Costa, S; Vento, Giovanni; Genuardi, Maurizio | |
| 1-gen-2009 | Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2 | Neilson, De; Adams, Md; Orr, Cmd; Schelling, Dk; Eiben, Rm; Kerr, Ds; Anderson, J; Bassuk, Ag; Bye, Am; Childs, A; Clarke, A; Crow, Yj; Di Rocco, M; Dohna Schwake, C; Dueckers, G; Fasano, Ae; Gika, Ad; Gionnis, D; Gorman, Mp; Grattan Smith, Pj; Hackenberg, A; Kuster, A; Lentschig, Mg; Lopez Laso, E; Marco, Ej; Mastroyianni, S; Perrier, J; Schmitt Mechelke, T; Servidei, Serenella; Skardoutsou, A; Uldall, P; Van Der Knaap, Ms; Goglin, Kc; Tefft, Dl; Aubin, C; De Jager, P; Hafler, D; Warman, Ml | |
| 1-gen-2015 | Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients | Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Mercuri, Eugenio Maria; Stefanini, Mc; Caumes, R; Edery, P; Rossi, M; Piccione, M; Corsello, G; Della Monica, M; Scarano, F; Priolo, M; Gentile, M; Zampino, Giuseppe; Vijzelaar, R; Abdulrahman, O; Rauch, A; Oneda, B; Deardorff, Ma; Saitta, Sc; Falk, Mj; Dubbs, H; Zackai, E. | |
| 1-gen-2013 | Lim mineralization protein is involved in the premature calvarial ossification in sporadic craniosynostoses | Lattanzi, Wanda; Barba, Marta; Novegno, Federica; Massimi, Luca; Tesori, Valentina; Tamburrini, Gianpiero; Galgano, Salvatore; Bernardini, Camilla; Caldarelli, Massimo; Michetti, Fabrizio; Di Rocco, Concezio | |
| 1-gen-2013 | Lim mineralization protein is involved in the premature calvarial ossification in sporadic craniosynostoses | Lattanzi, Wanda; Barba, Marta; Novegno, Federica; Massimi, Luca; Tesori, Valentina; Tamburrini, Gianpiero; Galgano, Salvatore; Bernardini, Camilla; Caldarelli, Massimo; Michetti, Fabrizio; Di Rocco, Concezio | |
| 1-gen-2014 | Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. | Chiurazzi, Pietro | |
| 1-gen-2010 | Molecular pathology in forensic medicine--Introduction. | Madea, Burkhard; Saukko, Pekka; Oliva, Antonio; Musshoff, D. | |
| 1-gen-2001 | Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. | Puccio, H; Simon, D; Cossée, M; Criqui Filipe, P; Tiziano, Francesco Danilo; Melki, J; Hindelang, C; Matyas, R; Koenig, M. |
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