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Detection of Pitt–Hopkins syndrome based on morphological facial features
2021 D'Amato, E.; Reyes-Aldasoro, C. C.; Consiglio, A.; D'Amato, G.; Faienza, M. F.; Zollino, Marcella
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
2020 Mulder, P. A.; van Balkom, I. D. C.; Landlust, A. M.; Priolo, M.; Menke, L. A.; Acero, I. H.; Alkuraya, F. S.; Arias, P.; Bernardini, L.; Bijlsma, E. K.; Cole, T.; Coubes, C.; Dapia, I.; Davies, S.; Di Donato, N.; Elcioglu, N. H.; Fahrner, J. A.; Foster, A.; Gonzalez, N. G.; Huber, I.; Iascone, M.; Kaiser, A. -S.; Kamath, A.; Kooblall, K.; Lapunzina, P.; Liebelt, J.; Lynch, S. A.; Maas, S. M.; Mammi, C.; Mathijssen, I. B.; Mckee, S.; Mirzaa, G. M.; Montgomery, T.; Neubauer, D.; Neumann, T. E.; Pintomalli, L.; Pisanti, M. A.; Plomp, A. S.; Price, S.; Salter, C.; Santos-Simarro, F.; Sarda, P.; Schanze, D.; Segovia, M.; Shaw-Smith, C.; Smithson, S.; Suri, M.; Tatton-Brown, K.; Tenorio, J.; Thakker, R. V.; Valdez, R. M.; Van Haeringen, A.; Van Hagen, J. M.; Zenker, M.; Zollino, Marcella; Dunn, W. W.; Piening, S.; Hennekam, R. C.
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
2008 Sparago, A; Verde, G; De Crescenzo, A; Citro, V; Cubellis, Mv; Rinaldi, Mm; Boccuto, Luigi; Neri, Giovanni; Magnani, C; D'Angelo, P; Collini, P; Perotti, D; Sebastio, G; Maher, R; Riccio, A.
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
2011 Herholz, J; Meloni, A; Marongiu, M; Chiappe, F; Deiana, M; Herrero, Cr; Zampino, Giuseppe; Hamamy, H; Zalloum, Y; Waaler, Pe; Crisponi, G; Crisponi, L; Rutsch, F.
Directional dominance on stature and cognition in diverse human populations
2015 Gambaro, Giovanni; Et Al, Consortium
Dissecting the Wolf–Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism
2018 Zollino, Marcella; Doronzio, P. N.
down syndrome:comments and reflections on the 50th anniversary of Lejeune's discovery
2009 Neri, Giovanni; Opitz, John
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case
2009 Veredice, Chiara; Bianco, Flaviana; Contaldo, Ilaria; Orteschi, Daniela; Stefanini, Maria Chiara; Battaglia, Domenica Immacolata; Lettori, Donatella; Guzzetta, Francesco; Zollino, Marcella
Effect of Proinflammatory Gene Polymorphisms on the Risk of Alzheimer's Disease.
2013 Flex, Andrea; Giovannini, Silvia; Biscetti, Federico; Liperoti, Rosa; Landi, Francesco; Bernabei, Roberto
Efficacy and tolerability of 5-aminolevulinic acid 0.5% liposomal spray and intense pulsed light in wrinkle reduction of photodamaged skin
2011 Piccioni, A; Fargnoli, Mc; Schoinas, S; Suppa, M; Frascione, P; Ginebri, A; Chimenti, S; Peris, Ketty
Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review
2018 Greco, M.; Ferrara, Pietro; Farello, G.; Striano, P.; Verrotti, A.
Elements of morphology: standard terminology for the head and face.
2009 Neri, Giovanni; Allanson, Judith E; Cuniff, Christopher; Homme, Eugene H; Mcgaughran, Julie; Muenke, Max
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor
2013 Genuardi, Maurizio; Gurrieri, Fiorella; Zollino, Marcella
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype
2013 Cordelli, Dm; Garavelli, L; Savasta, S; Guerra, A; Pellicciari, A; Giordano, L; Bonetti, S; Cecconi, I; Wischmeijer, A; Seri, M; Rosato, S; Gelmini, C; Della Giustina, E; Ferrari, Ar; Zanotta, N; Epifanio, R; Grioni, D; Malbora, B; Mammi, I; Mari, F; Buoni, S; Mostardini, R; Grosso, S; Pantaleoni, C; Doz, M; Poch Olivé, Ml; Rivieri, F; Sorge, G; Simonte, G; Licata, F; Tarani, L; Terazzi, E; Mazzanti, L; Cerruti Mainardi, P; Boni, A; Faravelli, F; Grasso, M; Bianchi, P; Zollino, Marcella; Franzoni, E.
Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients
2013 Giovannini, Silvia; Marangio, L; Fusco, C; Scarano, A; Frattini, D; Della Giustina, E; Zollino, Marcella; Neri, Giovanni; Gobbi, G.
Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia
2009 Liu, K; Martini, Maurizio; Rocca, Bianca; Amos, Ci; Teofili, Luciana; Giona, F; Ding, J; Komatsu, H; Larocca, Luigi Maria; Skoda, Rc
Fibroblast growth factor 23 serum level in type 2 diabetic italian subjects with peripheral arterial disease and critical limb ischemia.
2016 Biscetti, Federico; Straface, Giuseppe; Pitocco, Dario; Angelini, Flavia; Tinelli, Giovanni; Landolfi, Raffaele; Flex, Andrea
Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly
2013 Garavelli, L; Simonte, G; Rosato, S; Wischmeijer, A; Albertini, E; Guareschi, E; Longo, C; Albertini, G; Gelmini, C; Greco, C; Errico, S; Pavanello, M; Happle, R; Unger, S; Superti Furga, A; Grzeschik, K; Savino, Gustavo
Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism
2013 Fuso, Leonello; Di Perna, Alessandra; Longobardi, Anna; Trove', Andrea; Bisceglia, Michela; Bibi, Benedetta; Angelozzi, Carla; Tiziano, Francesco Danilo; Antonelli Incalzi, Raffaele
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder
2009 Gurrieri, Fiorella; Neri, Giovanni; Boccuto, Luigi
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2021 | Detection of Pitt–Hopkins syndrome based on morphological facial features | D'Amato, E.; Reyes-Aldasoro, C. C.; Consiglio, A.; D'Amato, G.; Faienza, M. F.; Zollino, Marcella | |
1-gen-2020 | Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes | Mulder, P. A.; van Balkom, I. D. C.; Landlust, A. M.; Priolo, M.; Menke, L. A.; Acero, I. H.; Alkuraya, F. S.; Arias, P.; Bernardini, L.; Bijlsma, E. K.; Cole, T.; Coubes, C.; Dapia, I.; Davies, S.; Di Donato, N.; Elcioglu, N. H.; Fahrner, J. A.; Foster, A.; Gonzalez, N. G.; Huber, I.; Iascone, M.; Kaiser, A. -S.; Kamath, A.; Kooblall, K.; Lapunzina, P.; Liebelt, J.; Lynch, S. A.; Maas, S. M.; Mammi, C.; Mathijssen, I. B.; Mckee, S.; Mirzaa, G. M.; Montgomery, T.; Neubauer, D.; Neumann, T. E.; Pintomalli, L.; Pisanti, M. A.; Plomp, A. S.; Price, S.; Salter, C.; Santos-Simarro, F.; Sarda, P.; Schanze, D.; Segovia, M.; Shaw-Smith, C.; Smithson, S.; Suri, M.; Tatton-Brown, K.; Tenorio, J.; Thakker, R. V.; Valdez, R. M.; Van Haeringen, A.; Van Hagen, J. M.; Zenker, M.; Zollino, Marcella; Dunn, W. W.; Piening, S.; Hennekam, R. C. | |
1-gen-2008 | Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. | Sparago, A; Verde, G; De Crescenzo, A; Citro, V; Cubellis, Mv; Rinaldi, Mm; Boccuto, Luigi; Neri, Giovanni; Magnani, C; D'Angelo, P; Collini, P; Perotti, D; Sebastio, G; Maher, R; Riccio, A. | |
1-gen-2011 | Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. | Herholz, J; Meloni, A; Marongiu, M; Chiappe, F; Deiana, M; Herrero, Cr; Zampino, Giuseppe; Hamamy, H; Zalloum, Y; Waaler, Pe; Crisponi, G; Crisponi, L; Rutsch, F. | |
1-gen-2015 | Directional dominance on stature and cognition in diverse human populations | Gambaro, Giovanni; Et Al, Consortium | |
1-gen-2018 | Dissecting the Wolf–Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism | Zollino, Marcella; Doronzio, P. N. | |
1-gen-2009 | down syndrome:comments and reflections on the 50th anniversary of Lejeune's discovery | Neri, Giovanni; Opitz, John | |
1-gen-2009 | Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case | Veredice, Chiara; Bianco, Flaviana; Contaldo, Ilaria; Orteschi, Daniela; Stefanini, Maria Chiara; Battaglia, Domenica Immacolata; Lettori, Donatella; Guzzetta, Francesco; Zollino, Marcella | |
1-gen-2013 | Effect of Proinflammatory Gene Polymorphisms on the Risk of Alzheimer's Disease. | Flex, Andrea; Giovannini, Silvia; Biscetti, Federico; Liperoti, Rosa; Landi, Francesco; Bernabei, Roberto | |
1-gen-2011 | Efficacy and tolerability of 5-aminolevulinic acid 0.5% liposomal spray and intense pulsed light in wrinkle reduction of photodamaged skin | Piccioni, A; Fargnoli, Mc; Schoinas, S; Suppa, M; Frascione, P; Ginebri, A; Chimenti, S; Peris, Ketty | |
1-gen-2018 | Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review | Greco, M.; Ferrara, Pietro; Farello, G.; Striano, P.; Verrotti, A. | |
1-gen-2009 | Elements of morphology: standard terminology for the head and face. | Neri, Giovanni; Allanson, Judith E; Cuniff, Christopher; Homme, Eugene H; Mcgaughran, Julie; Muenke, Max | |
1-gen-2013 | Encomium: Giovanni Neri--polyhedral and down-to-earth mentor | Genuardi, Maurizio; Gurrieri, Fiorella; Zollino, Marcella | |
1-gen-2013 | Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype | Cordelli, Dm; Garavelli, L; Savasta, S; Guerra, A; Pellicciari, A; Giordano, L; Bonetti, S; Cecconi, I; Wischmeijer, A; Seri, M; Rosato, S; Gelmini, C; Della Giustina, E; Ferrari, Ar; Zanotta, N; Epifanio, R; Grioni, D; Malbora, B; Mammi, I; Mari, F; Buoni, S; Mostardini, R; Grosso, S; Pantaleoni, C; Doz, M; Poch Olivé, Ml; Rivieri, F; Sorge, G; Simonte, G; Licata, F; Tarani, L; Terazzi, E; Mazzanti, L; Cerruti Mainardi, P; Boni, A; Faravelli, F; Grasso, M; Bianchi, P; Zollino, Marcella; Franzoni, E. | |
1-gen-2013 | Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients | Giovannini, Silvia; Marangio, L; Fusco, C; Scarano, A; Frattini, D; Della Giustina, E; Zollino, Marcella; Neri, Giovanni; Gobbi, G. | |
1-gen-2009 | Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia | Liu, K; Martini, Maurizio; Rocca, Bianca; Amos, Ci; Teofili, Luciana; Giona, F; Ding, J; Komatsu, H; Larocca, Luigi Maria; Skoda, Rc | |
1-gen-2016 | Fibroblast growth factor 23 serum level in type 2 diabetic italian subjects with peripheral arterial disease and critical limb ischemia. | Biscetti, Federico; Straface, Giuseppe; Pitocco, Dario; Angelini, Flavia; Tinelli, Giovanni; Landolfi, Raffaele; Flex, Andrea | |
1-gen-2013 | Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly | Garavelli, L; Simonte, G; Rosato, S; Wischmeijer, A; Albertini, E; Guareschi, E; Longo, C; Albertini, G; Gelmini, C; Greco, C; Errico, S; Pavanello, M; Happle, R; Unger, S; Superti Furga, A; Grzeschik, K; Savino, Gustavo | |
1-gen-2013 | Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism | Fuso, Leonello; Di Perna, Alessandra; Longobardi, Anna; Trove', Andrea; Bisceglia, Michela; Bibi, Benedetta; Angelozzi, Carla; Tiziano, Francesco Danilo; Antonelli Incalzi, Raffaele | |
1-gen-2009 | Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder | Gurrieri, Fiorella; Neri, Giovanni; Boccuto, Luigi |
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