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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.
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations
2006 Sampieri, Katia; Hadjistilianou, Theodora; Mari, Francesca; Speciale, Caterina; Mencarelli, Maria Antonietta; Cetta, Francesco; Manoukian, Siranoush; Peissel, Bernard; Giachino, Daniela; Pasini, Barbara; Acquaviva, Antonio; Caporossi, Aldo; Frezzotti, Renato; Renieri, Alessandra; Bruttini, Mirella
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
2012 Sarparanta, J; Jonson, Ph; Golzio, C; Sandell, S; Luque, H; Screen, M; Mcdonald, K; Stajich, Jm; Mahjneh, I; Vihola, A; Raheem, O; Penttilä, S; Lehtinen, S; Huovinen, S; Palmio, J; Tasca, Giorgio; Ricci, Enzo; Hackman, P; Hauser, M; Katsanis, N; Udd, B.
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
2012 Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe; Battaglia, Dario
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis
2013 Sabatelli, Mario; Moncada, Alice; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France
2013 Lattante, Serena; Le Ber, I; Camuzat, A; Brice, A; Kabashi, E.
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis
2013 Pin, E; Pastrello, C; Tricarico, R; Papi, L; Quaia, M; Fornasarig, M; Carnevali, I; Oliani, C; Fornasin, A; Agostini, M; Maestro, R; Barana, D; Aretz, S; Genuardi, Maurizio; Viel, A.
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations
2014 Pecci, A; Klersy, C; Gresele, P; Lee, Kj; De Rocco, D; Bozzi, V; Russo, G; Heller, Pg; Loffredo, G; Ballmaier, M; Fabris, F; Beggiato, E; Kahr, Wh; Pujol Moix, N; Platokouki, H; Van Geet, C; Noris, P; Yerram, P; Hermans, C; Gerber, B; Economou, M; De Groot, M; Zieger, B; De Candia, Erica; Fraticelli, V; Kersseboom, R; Piccoli, Gb; Zimmermann, S; Fierro, T; Glembotsky, Ac; Vianello, F; Zaninetti, C; Nicchia, E; Güthner, C; Baronci, C; Seri, M; Knight, Pj; Balduini, Cl; Savoia, A.
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis
2016 Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families
2021 Capoluongo, Ettore Domenico; De Matteis, Elisabetta; Cucinotto, I; Ronzino, G; Santonocito, Concetta; Tornesello, Assunta; De Giorgio, Mr; Lucci Cordisco, Emanuela; Minucci, Angelo; Genuardi, Maurizio
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
2015 Gurrieri, Fiorella; Cavaliere, Ml; Priolo, M; Wischmeijer, A; Mammì, C; Neri, G; Pisanti, Ma; Rodella, G; Laganà, C.
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy
2006 Cardaioli, E.; Gallus, G. N.; Da Pozzo, P.; Rufa, A.; Franceschini, R.; Motolese, E.; Caporossi, Aldo; Dotti, M. T.; Federico, A.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 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. | |
| 1-gen-2006 | Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations | Sampieri, Katia; Hadjistilianou, Theodora; Mari, Francesca; Speciale, Caterina; Mencarelli, Maria Antonietta; Cetta, Francesco; Manoukian, Siranoush; Peissel, Bernard; Giachino, Daniela; Pasini, Barbara; Acquaviva, Antonio; Caporossi, Aldo; Frezzotti, Renato; Renieri, Alessandra; Bruttini, Mirella | |
| 1-gen-2012 | Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy | Sarparanta, J; Jonson, Ph; Golzio, C; Sandell, S; Luque, H; Screen, M; Mcdonald, K; Stajich, Jm; Mahjneh, I; Vihola, A; Raheem, O; Penttilä, S; Lehtinen, S; Huovinen, S; Palmio, J; Tasca, Giorgio; Ricci, Enzo; Hackman, P; Hauser, M; Katsanis, N; Udd, B. | |
| 1-gen-2012 | Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype | Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe; Battaglia, Dario | |
| 1-gen-2013 | Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis | Sabatelli, Mario; Moncada, Alice; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella | |
| 1-gen-2013 | Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France | Lattante, Serena; Le Ber, I; Camuzat, A; Brice, A; Kabashi, E. | |
| 1-gen-2013 | MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis | Pin, E; Pastrello, C; Tricarico, R; Papi, L; Quaia, M; Fornasarig, M; Carnevali, I; Oliani, C; Fornasin, A; Agostini, M; Maestro, R; Barana, D; Aretz, S; Genuardi, Maurizio; Viel, A. | |
| 1-gen-2014 | MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations | Pecci, A; Klersy, C; Gresele, P; Lee, Kj; De Rocco, D; Bozzi, V; Russo, G; Heller, Pg; Loffredo, G; Ballmaier, M; Fabris, F; Beggiato, E; Kahr, Wh; Pujol Moix, N; Platokouki, H; Van Geet, C; Noris, P; Yerram, P; Hermans, C; Gerber, B; Economou, M; De Groot, M; Zieger, B; De Candia, Erica; Fraticelli, V; Kersseboom, R; Piccoli, Gb; Zimmermann, S; Fierro, T; Glembotsky, Ac; Vianello, F; Zaninetti, C; Nicchia, E; Güthner, C; Baronci, C; Seri, M; Knight, Pj; Balduini, Cl; Savoia, A. | |
| 1-gen-2016 | New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis | Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena | |
| 1-gen-2021 | A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families | Capoluongo, Ettore Domenico; De Matteis, Elisabetta; Cucinotto, I; Ronzino, G; Santonocito, Concetta; Tornesello, Assunta; De Giorgio, Mr; Lucci Cordisco, Emanuela; Minucci, Angelo; Genuardi, Maurizio | |
| 1-gen-2015 | NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. | Gurrieri, Fiorella; Cavaliere, Ml; Priolo, M; Wischmeijer, A; Mammì, C; Neri, G; Pisanti, Ma; Rodella, G; Laganà, C. | |
| 1-gen-2006 | A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy | Cardaioli, E.; Gallus, G. N.; Da Pozzo, P.; Rufa, A.; Franceschini, R.; Motolese, E.; Caporossi, Aldo; Dotti, M. T.; Federico, A. |
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