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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.
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.
2000 Frugier, Tony; Tiziano, Francesco Danilo; Cifuentes Diaz, Carmen; Miniou, Pierre; Roblot, Natacha; Dierich, A; Le Meur, M; Melki, Judith
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism
2014 Fornarino, S; Stagnaro, M; Rinelli, M; Tiziano, Francesco Danilo; Mancardi, Mm; Traverso, M; Veneselli, E; De Grandis, E.
PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism
2010 Satterfield, Bc; Garcia, Ra; Gurrieri, Fiorella; Schwartz, Charles
Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia.
2009 Chassaing, N; Golzio, C; Odent, S; Lequeux, L; Vigouroux, A; Martinovic Bouriel, L; Tiziano, Francesco Danilo; Masini, Lucia; Piro, F; Maragliano, G; Delezoide, Al; Attié Bitach, T; Manouvrier Hanu, S; Etchevers, Hc; Calvas, P.
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations
2015 Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Del Grande, Alessandra; Marangi, Giuseppe; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Piacentini, Roberto; Bisogni, Giulia; Lattante, Serena; Luigetti, Marco; Rossini, Paolo Maria; Moncada, Alice
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
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. | |
1-gen-2000 | Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. | Frugier, Tony; Tiziano, Francesco Danilo; Cifuentes Diaz, Carmen; Miniou, Pierre; Roblot, Natacha; Dierich, A; Le Meur, M; Melki, Judith | |
1-gen-2014 | Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism | Fornarino, S; Stagnaro, M; Rinelli, M; Tiziano, Francesco Danilo; Mancardi, Mm; Traverso, M; Veneselli, E; De Grandis, E. | |
1-gen-2010 | PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism | Satterfield, Bc; Garcia, Ra; Gurrieri, Fiorella; Schwartz, Charles | |
1-gen-2009 | Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. | Chassaing, N; Golzio, C; Odent, S; Lequeux, L; Vigouroux, A; Martinovic Bouriel, L; Tiziano, Francesco Danilo; Masini, Lucia; Piro, F; Maragliano, G; Delezoide, Al; Attié Bitach, T; Manouvrier Hanu, S; Etchevers, Hc; Calvas, P. | |
1-gen-2015 | Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations | Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Del Grande, Alessandra; Marangi, Giuseppe; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Piacentini, Roberto; Bisogni, Giulia; Lattante, Serena; Luigetti, Marco; Rossini, Paolo Maria; Moncada, Alice |
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