Sfoglia per Autore
Xq12-q13.3 DUPLICATION: EVIDENCE OF A RECURRENT SYNDROME
2012 Prontera, Paolo; Ottaviani, V.; Isidori, I.; Stangoni, G.; Donti, Emilio
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
2012 Allanson, J; Smith, A; Hare, H; Albrecht, B; Bijlsma, E; Dallapiccola, B; Donti, Emilio; Fitzpatrick, D; Isidor, B; Lachlan, K; Le Caignec, C; Prontera, Paolo; Raas Rothschild, A; Rogaia, Daniela; van Bon, B; Aradhya, S; Crocker, Sf; Jarinova, O; McGowan Jordan, J; Boycott, K; Bulman, D; Fagerberg, C. R.
Blood cell mitochondrial DNA content and premature ovarian aging
2012 Bonomi, M; Somigliana, E; Cacciatore, C; Busnelli, M; Rossetti, R; Bonetti, S; Paffoni, A; Mari, D; Ragni, G; Persani, L; Arosio, M; Beck Peccoz, P; Biondi, M; Bione, S; Bruni, V; Brigante, C; Cannavo, S; Cavallo, L; Cisternino, M; Colombo, I; Corbetta, S; Crosignani, Pg; D'Avanzo, Mg; Dalpra, L; Danesino, C; Di Battista, E; Di Prospero, F; Donti, Emilio; Einaudi, S; Falorni, Alberto; Foresta, C; Fusi, F; Garofalo, N; Giotti, I; Lanzi, R; Larizza, D; Locatelli, N; Loli, P; Madaschi, S; Maghnie, M; Maiore, S; Mantero, F; Marozzi, A; Marzotti, S; Migone, N; Nappi, R; Palli, D; Patricelli, Mg; Pisani, C; Prontera, Paolo; Petraglia, F; Radetti, G; Renieri, A; Ricca, I; Ripamonti, A; Rossetti, R; Russo, G; Russo, S; Tonacchera, M; Toniolo, D; Torricelli, F; Vegetti, W; Villa, N; Vineis, P; Wasniewsk, M; Zuffardi, O.
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?
2013 Prontera, Paolo; A., Bartocci; V., Ottaviani; I., Isidori; Rogaia, Daniela; C., Ardisia; G., Guercini; Mencarelli, Amedea; Donti, Emilio
Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.
2014 Tambasco, Nicola; Belcastro, Vincenzo; Prontera, Paolo; Nigro, Pasquale; Donti, Emilio; Rossi, Aroldo; Calabresi, Paolo
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.
2014 Tokita, Mj; Chow, Pm; Mirzaa, G; Dikow, N; Maas, B; Isidor, B; Le Caignec, C; Penney, Ls; Mazzotta, Giovanni; Bernardini, L; Filippi, T; Battaglia, A; Donti, Emilio; Earl, D; Prontera, Paolo
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.
2014 Costa, Cinzia; Prontera, P; Sarchielli, Paola; Tonelli, A; Bassi, Mt; Cupini, Lm; Caproni, Stefano; Siliquini, Sabrina; Donti, Emilio; Calabresi, Paolo
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
2014 Prontera, Paolo; Ottaviani, V; Toccaceli, D; Rogaia, Daniela; Ardisia, C; Romani, Rita; Stangoni, G; Pierini, A; Donti, Emilio
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder.
2014 Prontera, Paolo; Serino, D; Caldini, B; Scarponi, L; Merla, G; Testa, G; Muti, M; Napolioni, V; Mazzotta, Giovanni; Piccirilli, M; Donti, Emilio
Migraine and epilepsy: what value today?
2015 Costa, Cinzia; Prontera, Paolo; Caproni, Stefano; Cupini, Letizia M; Sarchielli, Paola; Calabresi, Paolo
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1
2015 Romani, Rita; Pirisinu, Irene; Calvitti, Mario; Pallotta, MARIA TERESA; Gargaro, Marco; Giovanni, Bistoni; Vacca, Carmine; DI MICHELE, Alessandro; Orabona, Ciriana; Jessica, Rosati; Pirro, Matteo; Giovagnoli, Stefano; Matino, Davide; Prontera, Paolo; Rosi, Gabriella; Grohmann, Ursula; Talesa, Vincenzo Nicola; Emilio, Donti; Puccetti, Paolo; Fallarino, Francesca
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes
2016 Tambasco, Nicola; Nigro, Pasquale; Romoli, Michele; Prontera, Paolo; Simoni, Simone; Calabresi, Paolo
Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia
2017 Cassone, Marco; Ferradini, Valentina; Longo, Giuliana; Sarchielli, Paola; Murasecco, Donatella; Romoli, Michele; Pasquini, Elisabetta; Novelli, Giuseppe; Prontera, Paolo; Sangiuolo, Federica
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
2017 Cinque, Luigia; Sparaneo, Angelo; Penta, Laura; Mencarelli, Amedea; Rogaia, Daniela; Esposito, Susanna; Fabrizio, Federico Pio; Baorda, Filomena; Verrotti, Alberto; Falorni, Alberto; Stangoni, Gabriela; Hendy, Geoffrey N.; Guarnieri, Vito; Prontera, Paolo
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations
2017 Marini, Carla; Romoli, Michele; Parrini, Elena; Costa, Cinzia; Mei, Davide; Mari, Francesco; Parmeggiani, Lucio; Procopio, Elena; Metitieri, Tiziana; Cellini, Elena; Virdò, Simona; De Vita, Dalila; Gentile, Mattia; Prontera, Paolo; Calabresi, Paolo; Guerrini, Renzo
A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening
2017 Prontera, Paolo; Isidori, Ilenia; Mencarini, Valeria; Pennoni, Guido; Mencarelli, Amedea; Stangoni, Gabriela; DI CARA, Giuseppe; VERROTTI DI PIANELLA, Alberto
Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature
2017 Mencarelli, Annalisa; Prontera, Paolo; Stangoni, Gabriela; Mencaroni, Elisabetta; Principi, Nicola; Esposito, Susanna
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T > A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma
2018 Mencarelli, A; Prontera, P; Mencarelli, A; Rogaia, D; Stangoni, G; Cecconi, M; Esposito, S.
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications
2018 Prontera, P.; Sarchielli, P.; Caproni, S.; Bedetti, C.; Cupini, L. M.; Calabresi, P.; Costa, C.
Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis
2018 Lucchetti, L; Prontera, P; Mencarelli, A; Sallicandro, E; Mencarelli, A; Cofini, M; Leonardi, A; Stangoni, Gioia; Penta, L; Esposito, S.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Xq12-q13.3 DUPLICATION: EVIDENCE OF A RECURRENT SYNDROME | 2012 | Prontera, Paolo; Ottaviani, V.; Isidori, I.; Stangoni, G.; Donti, Emilio | |
| Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. | 2012 | Allanson, J; Smith, A; Hare, H; Albrecht, B; Bijlsma, E; Dallapiccola, B; Donti, Emilio; Fitzpatrick, D; Isidor, B; Lachlan, K; Le Caignec, C; Prontera, Paolo; Raas Rothschild, A; Rogaia, Daniela; van Bon, B; Aradhya, S; Crocker, Sf; Jarinova, O; McGowan Jordan, J; Boycott, K; Bulman, D; Fagerberg, C. R. | |
| Blood cell mitochondrial DNA content and premature ovarian aging | 2012 | Bonomi, M; Somigliana, E; Cacciatore, C; Busnelli, M; Rossetti, R; Bonetti, S; Paffoni, A; Mari, D; Ragni, G; Persani, L; Arosio, M; Beck Peccoz, P; Biondi, M; Bione, S; Bruni, V; Brigante, C; Cannavo, S; Cavallo, L; Cisternino, M; Colombo, I; Corbetta, S; Crosignani, Pg; D'Avanzo, Mg; Dalpra, L; Danesino, C; Di Battista, E; Di Prospero, F; Donti, Emilio; Einaudi, S; Falorni, Alberto; Foresta, C; Fusi, F; Garofalo, N; Giotti, I; Lanzi, R; Larizza, D; Locatelli, N; Loli, P; Madaschi, S; Maghnie, M; Maiore, S; Mantero, F; Marozzi, A; Marzotti, S; Migone, N; Nappi, R; Palli, D; Patricelli, Mg; Pisani, C; Prontera, Paolo; Petraglia, F; Radetti, G; Renieri, A; Ricca, I; Ripamonti, A; Rossetti, R; Russo, G; Russo, S; Tonacchera, M; Toniolo, D; Torricelli, F; Vegetti, W; Villa, N; Vineis, P; Wasniewsk, M; Zuffardi, O. | |
| Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? | 2013 | Prontera, Paolo; A., Bartocci; V., Ottaviani; I., Isidori; Rogaia, Daniela; C., Ardisia; G., Guercini; Mencarelli, Amedea; Donti, Emilio | |
| Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. | 2014 | Tambasco, Nicola; Belcastro, Vincenzo; Prontera, Paolo; Nigro, Pasquale; Donti, Emilio; Rossi, Aroldo; Calabresi, Paolo | |
| Five children with deletions of 1p34.3 encompassing AGO1 and AGO3. | 2014 | Tokita, Mj; Chow, Pm; Mirzaa, G; Dikow, N; Maas, B; Isidor, B; Le Caignec, C; Penney, Ls; Mazzotta, Giovanni; Bernardini, L; Filippi, T; Battaglia, A; Donti, Emilio; Earl, D; Prontera, Paolo | |
| A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. | 2014 | Costa, Cinzia; Prontera, P; Sarchielli, Paola; Tonelli, A; Bassi, Mt; Cupini, Lm; Caproni, Stefano; Siliquini, Sabrina; Donti, Emilio; Calabresi, Paolo | |
| Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. | 2014 | Prontera, Paolo; Ottaviani, V; Toccaceli, D; Rogaia, Daniela; Ardisia, C; Romani, Rita; Stangoni, G; Pierini, A; Donti, Emilio | |
| Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder. | 2014 | Prontera, Paolo; Serino, D; Caldini, B; Scarponi, L; Merla, G; Testa, G; Muti, M; Napolioni, V; Mazzotta, Giovanni; Piccirilli, M; Donti, Emilio | |
| Migraine and epilepsy: what value today? | 2015 | Costa, Cinzia; Prontera, Paolo; Caproni, Stefano; Cupini, Letizia M; Sarchielli, Paola; Calabresi, Paolo | |
| Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1 | 2015 | Romani, Rita; Pirisinu, Irene; Calvitti, Mario; Pallotta, MARIA TERESA; Gargaro, Marco; Giovanni, Bistoni; Vacca, Carmine; DI MICHELE, Alessandro; Orabona, Ciriana; Jessica, Rosati; Pirro, Matteo; Giovagnoli, Stefano; Matino, Davide; Prontera, Paolo; Rosi, Gabriella; Grohmann, Ursula; Talesa, Vincenzo Nicola; Emilio, Donti; Puccetti, Paolo; Fallarino, Francesca | |
| A53T in a parkinsonian family: a clinical update of the SNCA phenotypes | 2016 | Tambasco, Nicola; Nigro, Pasquale; Romoli, Michele; Prontera, Paolo; Simoni, Simone; Calabresi, Paolo | |
| Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia | 2017 | Cassone, Marco; Ferradini, Valentina; Longo, Giuliana; Sarchielli, Paola; Murasecco, Donatella; Romoli, Michele; Pasquini, Elisabetta; Novelli, Giuseppe; Prontera, Paolo; Sangiuolo, Federica | |
| Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism | 2017 | Cinque, Luigia; Sparaneo, Angelo; Penta, Laura; Mencarelli, Amedea; Rogaia, Daniela; Esposito, Susanna; Fabrizio, Federico Pio; Baorda, Filomena; Verrotti, Alberto; Falorni, Alberto; Stangoni, Gabriela; Hendy, Geoffrey N.; Guarnieri, Vito; Prontera, Paolo | |
| Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations | 2017 | Marini, Carla; Romoli, Michele; Parrini, Elena; Costa, Cinzia; Mei, Davide; Mari, Francesco; Parmeggiani, Lucio; Procopio, Elena; Metitieri, Tiziana; Cellini, Elena; Virdò, Simona; De Vita, Dalila; Gentile, Mattia; Prontera, Paolo; Calabresi, Paolo; Guerrini, Renzo | |
| A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening | 2017 | Prontera, Paolo; Isidori, Ilenia; Mencarini, Valeria; Pennoni, Guido; Mencarelli, Amedea; Stangoni, Gabriela; DI CARA, Giuseppe; VERROTTI DI PIANELLA, Alberto | |
| Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature | 2017 | Mencarelli, Annalisa; Prontera, Paolo; Stangoni, Gabriela; Mencaroni, Elisabetta; Principi, Nicola; Esposito, Susanna | |
| Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T > A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma | 2018 | Mencarelli, A; Prontera, P; Mencarelli, A; Rogaia, D; Stangoni, G; Cecconi, M; Esposito, S. | |
| Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications | 2018 | Prontera, P.; Sarchielli, P.; Caproni, S.; Bedetti, C.; Cupini, L. M.; Calabresi, P.; Costa, C. | |
| Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis | 2018 | Lucchetti, L; Prontera, P; Mencarelli, A; Sallicandro, E; Mencarelli, A; Cofini, M; Leonardi, A; Stangoni, Gioia; Penta, L; Esposito, S. |
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