Sfoglia per Autore
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
2001-01-01 Brockington, M.; Yuva, Y.; Prandini, Paola; Brown, S. C.; Torelli, S.; Benson, M. A.; Herrmann, R.; Anderson, L. V.; Bashir, R.; Burgunder, J. M.; Fallet, S.; Romero, N.; Fardeau, M.; Straub, V.; Storey, G.; Pollitt, C.; Richard, I.; Sewry, C. A.; Bushby, K.; Voit, T.; Blake, D. J.; Muntoni, F.
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
2001-01-01 Brockington, M.; Blake, D. J.; Prandini, Paola; Brown, S. C.; Torelli, S.; Benson, M. A.; Ponting, C. P.; Estournet, B.; Romero, N. B.; Mercuri, E.; Voit, T.; Sewry, C. A.; Guicheney, P.; Muntoni, F.
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.
2002-01-01 Pegoraro, E.; Cepollaro, F.; Prandini, Paola; Marin, A.; Fanin, M.; Trevisan, C. P.; El Messlemani, A. H.; Tarone, G.; Engvall, E.; Hoffman, E. P.; Angelini, C.
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
2003-01-01 Tezak, Z.; Prandini, Paola; Boscaro, M.; Marin, A.; Devaney, J.; Marino, M.; Fanin, M.; Trevisan, C. P.; Park, J.; Tyson, W.; Finkel, R.; Garcia, C.; Angelini, C.; Hoffman, E. P.; Pegoraro, E.
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
2004-01-01 Prandini, Paola; Berardinelli, A.; Fanin, M.; Morello, F.; Zardini, E.; Pichiecchio, A.; Uggetti, C.; Lanzi, G.; Angelini, C.; Pegoraro, E.
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
2005-01-01 Boito, C. A.; Melacini, P.; Vianello, A.; Prandini, Paola; Gavassini, B. F.; Bagattin, A.; Siciliano, G.; Angelini, C.; Pegoraro, E.
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.
2005-01-01 Andrigo, C.; Boito, C.; Prandini, Paola; Mostacciuolo, M. L.; Siciliano, G.; Angelini, C.; Pegoraro, E.
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
2005-01-01 Brockington, M.; Torelli, S.; Prandini, Paola; Boito, C.; Dolatshad, N. F.; Longman, C.; Brown, S. C.; Muntoni, F.
Islands of euchromatic-like sequence and expressed genes within the heterochromatic regions: lessons from the initial sequence analysis of 21p.
2005-01-01 Prandini, Paola; Lyle, R.; Osoegawa, K.; ten Hallers, B.; Humphray, S.; Zhu, B.; Eyras, E.; Castelo, R.; Bird, C.; Cruts, M.; Dahoun, S.; She, X.; van Broeckhoven, C.; Eichler, E.; Guigo, R.; Rogers, J.; de Jong, P.; Reymond, A.; Antonarakis, S. E.
Islands of euchromatic-like sequence and expressed genes within the short arm of HSA21: sequence and copy number variability.
2006-01-01 Prandini, Paola; Lyle, R.; Osoegawa, K.; ten Hallers, B.; Humphray, S.; Zhu, B.; Eyras, E.; Castelo, R.; Bird, C.; Cruts, M.; Dahoun, S.; She, X.; van Broeckhoven, C.; Eichler, E.; Guigo, R.; Rogers, J.; de Jong, P.; Reymond, A.; Antonarakis, S. E.
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
2007-01-01 Prandini, Paola; Deutsch, S.; Lyle, R.; Gagnebin, M.; Delucinge Vivier, C.; Delorenzi, M.; Gehrig, C.; Descombes, P.; Sherman, S.; Dagna Bricarelli, F.; Baldo, C.; Novelli, A.; Dallapiccola, B.; Antonarakis, S. E.
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.
2007-01-01 Lyle, R.; Prandini, Paola; Osoegawa, K.; Ten Hallers, B.; Humphray, S.; Zhu, B.; Eyras, E.; Castelo, R.; Bird, C. P.; Gagos, S.; Scott, C.; Cox, A.; Deutsch, S.; Ucla, C.; Cruts, M.; Dahoun, S.; She, X.; Bena, F.; Wang, S. Y.; Van Broeckhoven, C.; Eichler, E. E.; Guigo, R.; Rogers, J.; de Jong, P. J.; Reymond, A.; Antonarakis, S. E.
Role of the C1236T (rs1128503) polymorphism of the MDR-1 gene on clopidogrel responsiveness
2008-01-01 Prandini, Paola; Zanoni, Martina; Angiolillo, D. J.; Bernardo, E.; Fernandez Otiz, A.; Macaya, C.; Bass, T. A.; Trabetti, Elisabetta; Pignatti, Pierfranco
Role of the C1236T (rs1128503) polymorphism of the MDR-1 gene on clopidogrel responsiveness
2008-01-01 Trabetti, Elisabetta; Zanoni, Martina; Prandini, Paola; Angiolillo, D. J.; Bernardo, E.; Fernandez Ortiz, A.; Macaya, C.; Bass, T. A.; Pignatti, Pierfranco
Association between genetic polymorphisms of the insulin receptor substrate-1 (IRS1) gene and cardiovascular events in type 2 diabetes mellitus patients
2008-01-01 Zanoni, Martina; Prandini, Paola; Malerba, Giovanni; Angiolillo, D. J.; Bernardo, E.; Fernandez Ortiz, A.; Macaya, C.; Bass, T. A.; Trabetti, Elisabetta; Pignatti, Pierfranco
Genetic polymorphisms of the insulin receptor substrate-1 (IRS1) gene and profiles of clopidogrel-induced antiplatelet effects in type 2 diabetes mellitus patients with coronary artery disease
2008-01-01 Zanoni, Martina; Prandini, Paola; Angiolillo, D. J.; Bernardo, E.; Fernandez Ortiz, A.; Macaya, C.; Bass, T. A.; Trabetti, Elisabetta; Pignatti, Pierfranco
Genetic polymorphisms of the insulin receptor substrate-1 (IRS1) gene and profiles of clopidogrel-induced antiplatelet effects in type 2 diabetes mellitus patients with coronary artery disease
2008-01-01 Zanoni, Martina; Prandini, Paola; Angiolillo, D. J.; Bernardo, E.; Fernandez Otiz, A.; Macaya, C.; Bass, T. A.; Trabetti, Elisabetta; Pignatti, Pierfranco
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome
2009-01-01 Pereira, P. L.; Magnol, L.; Sahún, I.; Brault, V.; Duchon, A.; Prandini, Paola; Gruart, A.; Bizot, J. C.; Chadefaux Vekemans, B.; Deutsch, S.; Trovero, F.; Delgado García, J. M.; Antonarakis, S. E.; Dierssen, M.; Herault, Y.
rs4307059 and rs4141463 study in an Italian cohort with Autism spectrum disorder
2010-01-01 Prandini, Paola; Trabetti, Elisabetta; Pasquali, Alessandra; P., Muglia; L., Da Ros; Romanelli, Maria; Malerba, Giovanni; DALLA BERNARDINA, Bernardo; Zoccante, Leonardo; Boscaini, Flavio; G., Masi; F., Nardocci; R., Scifo; A., Zuddas; A., Pascotto; A., Tiberti; M., Molteni; P., Curatolo; L., Margari; M., Elia; P. A., Battistella; A., Parmeggiani; Pignatti, Pierfranco
no association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder
2011-01-01 Curran, S; Bolton, P; Rozsnyai, K; A., L.; DALLA BERNARDINA, Bernardo; A., L.; Pignatti, Pierfranco; Prandini, Paola; Tiberti, A; Trabetti, Elisabetta; Zoccante, Leonardo; Zuddas, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. | 1-gen-2001 | Brockington, M.; Yuva, Y.; Prandini, Paola; Brown, S. C.; Torelli, S.; Benson, M. A.; Herrmann, R.; Anderson, L. V.; Bashir, R.; Burgunder, J. M.; Fallet, S.; Romero, N.; Fardeau, M.; Straub, V.; Storey, G.; Pollitt, C.; Richard, I.; Sewry, C. A.; Bushby, K.; Voit, T.; Blake, D. J.; Muntoni, F. | |
| Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. | 1-gen-2001 | Brockington, M.; Blake, D. J.; Prandini, Paola; Brown, S. C.; Torelli, S.; Benson, M. A.; Ponting, C. P.; Estournet, B.; Romero, N. B.; Mercuri, E.; Voit, T.; Sewry, C. A.; Guicheney, P.; Muntoni, F. | |
| Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology. | 1-gen-2002 | Pegoraro, E.; Cepollaro, F.; Prandini, Paola; Marin, A.; Fanin, M.; Trevisan, C. P.; El Messlemani, A. H.; Tarone, G.; Engvall, E.; Hoffman, E. P.; Angelini, C. | |
| Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. | 1-gen-2003 | Tezak, Z.; Prandini, Paola; Boscaro, M.; Marin, A.; Devaney, J.; Marino, M.; Fanin, M.; Trevisan, C. P.; Park, J.; Tyson, W.; Finkel, R.; Garcia, C.; Angelini, C.; Hoffman, E. P.; Pegoraro, E. | |
| LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. | 1-gen-2004 | Prandini, Paola; Berardinelli, A.; Fanin, M.; Morello, F.; Zardini, E.; Pichiecchio, A.; Uggetti, C.; Lanzi, G.; Angelini, C.; Pegoraro, E. | |
| Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. | 1-gen-2005 | Boito, C. A.; Melacini, P.; Vianello, A.; Prandini, Paola; Gavassini, B. F.; Bagattin, A.; Siciliano, G.; Angelini, C.; Pegoraro, E. | |
| A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. | 1-gen-2005 | Andrigo, C.; Boito, C.; Prandini, Paola; Mostacciuolo, M. L.; Siciliano, G.; Angelini, C.; Pegoraro, E. | |
| Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. | 1-gen-2005 | Brockington, M.; Torelli, S.; Prandini, Paola; Boito, C.; Dolatshad, N. F.; Longman, C.; Brown, S. C.; Muntoni, F. | |
| Islands of euchromatic-like sequence and expressed genes within the heterochromatic regions: lessons from the initial sequence analysis of 21p. | 1-gen-2005 | Prandini, Paola; Lyle, R.; Osoegawa, K.; ten Hallers, B.; Humphray, S.; Zhu, B.; Eyras, E.; Castelo, R.; Bird, C.; Cruts, M.; Dahoun, S.; She, X.; van Broeckhoven, C.; Eichler, E.; Guigo, R.; Rogers, J.; de Jong, P.; Reymond, A.; Antonarakis, S. E. | |
| Islands of euchromatic-like sequence and expressed genes within the short arm of HSA21: sequence and copy number variability. | 1-gen-2006 | Prandini, Paola; Lyle, R.; Osoegawa, K.; ten Hallers, B.; Humphray, S.; Zhu, B.; Eyras, E.; Castelo, R.; Bird, C.; Cruts, M.; Dahoun, S.; She, X.; van Broeckhoven, C.; Eichler, E.; Guigo, R.; Rogers, J.; de Jong, P.; Reymond, A.; Antonarakis, S. E. | |
| Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. | 1-gen-2007 | Prandini, Paola; Deutsch, S.; Lyle, R.; Gagnebin, M.; Delucinge Vivier, C.; Delorenzi, M.; Gehrig, C.; Descombes, P.; Sherman, S.; Dagna Bricarelli, F.; Baldo, C.; Novelli, A.; Dallapiccola, B.; Antonarakis, S. E. | |
| Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. | 1-gen-2007 | Lyle, R.; Prandini, Paola; Osoegawa, K.; Ten Hallers, B.; Humphray, S.; Zhu, B.; Eyras, E.; Castelo, R.; Bird, C. P.; Gagos, S.; Scott, C.; Cox, A.; Deutsch, S.; Ucla, C.; Cruts, M.; Dahoun, S.; She, X.; Bena, F.; Wang, S. Y.; Van Broeckhoven, C.; Eichler, E. E.; Guigo, R.; Rogers, J.; de Jong, P. J.; Reymond, A.; Antonarakis, S. E. | |
| Role of the C1236T (rs1128503) polymorphism of the MDR-1 gene on clopidogrel responsiveness | 1-gen-2008 | Prandini, Paola; Zanoni, Martina; Angiolillo, D. J.; Bernardo, E.; Fernandez Otiz, A.; Macaya, C.; Bass, T. A.; Trabetti, Elisabetta; Pignatti, Pierfranco | |
| Role of the C1236T (rs1128503) polymorphism of the MDR-1 gene on clopidogrel responsiveness | 1-gen-2008 | Trabetti, Elisabetta; Zanoni, Martina; Prandini, Paola; Angiolillo, D. J.; Bernardo, E.; Fernandez Ortiz, A.; Macaya, C.; Bass, T. A.; Pignatti, Pierfranco | |
| Association between genetic polymorphisms of the insulin receptor substrate-1 (IRS1) gene and cardiovascular events in type 2 diabetes mellitus patients | 1-gen-2008 | Zanoni, Martina; Prandini, Paola; Malerba, Giovanni; Angiolillo, D. J.; Bernardo, E.; Fernandez Ortiz, A.; Macaya, C.; Bass, T. A.; Trabetti, Elisabetta; Pignatti, Pierfranco | |
| Genetic polymorphisms of the insulin receptor substrate-1 (IRS1) gene and profiles of clopidogrel-induced antiplatelet effects in type 2 diabetes mellitus patients with coronary artery disease | 1-gen-2008 | Zanoni, Martina; Prandini, Paola; Angiolillo, D. J.; Bernardo, E.; Fernandez Ortiz, A.; Macaya, C.; Bass, T. A.; Trabetti, Elisabetta; Pignatti, Pierfranco | |
| Genetic polymorphisms of the insulin receptor substrate-1 (IRS1) gene and profiles of clopidogrel-induced antiplatelet effects in type 2 diabetes mellitus patients with coronary artery disease | 1-gen-2008 | Zanoni, Martina; Prandini, Paola; Angiolillo, D. J.; Bernardo, E.; Fernandez Otiz, A.; Macaya, C.; Bass, T. A.; Trabetti, Elisabetta; Pignatti, Pierfranco | |
| A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome | 1-gen-2009 | Pereira, P. L.; Magnol, L.; Sahún, I.; Brault, V.; Duchon, A.; Prandini, Paola; Gruart, A.; Bizot, J. C.; Chadefaux Vekemans, B.; Deutsch, S.; Trovero, F.; Delgado García, J. M.; Antonarakis, S. E.; Dierssen, M.; Herault, Y. | |
| rs4307059 and rs4141463 study in an Italian cohort with Autism spectrum disorder | 1-gen-2010 | Prandini, Paola; Trabetti, Elisabetta; Pasquali, Alessandra; P., Muglia; L., Da Ros; Romanelli, Maria; Malerba, Giovanni; DALLA BERNARDINA, Bernardo; Zoccante, Leonardo; Boscaini, Flavio; G., Masi; F., Nardocci; R., Scifo; A., Zuddas; A., Pascotto; A., Tiberti; M., Molteni; P., Curatolo; L., Margari; M., Elia; P. A., Battistella; A., Parmeggiani; Pignatti, Pierfranco | |
| no association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder | 1-gen-2011 | Curran, S; Bolton, P; Rozsnyai, K; A., L.; DALLA BERNARDINA, Bernardo; A., L.; Pignatti, Pierfranco; Prandini, Paola; Tiberti, A; Trabetti, Elisabetta; Zoccante, Leonardo; Zuddas, A. |
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