CONCOLINO, DANIELA
CONCOLINO, DANIELA
Dipartimento di Scienze della Salute
17β-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence
2009-01-01 Bertelloni, S; Balsamo, A; Giordani, L; Fischetto, R; Russo, G; Delvecchio, M; Gennari, M; Nicoletti, A; Maggio, Mc; Concolino, D; Cavallo, L; Cicognani, A; Chiumello, G; Hiort, O; Baroncelli, Gi; Faienza, Mf
7p22.2 Microduplication: A Pathogenic CNV?
2023-01-01 Bauleo, A.; Montesanto, A.; Pace, V.; Guarasci, F.; Apa, R.; Brando, R.; De Stefano, L.; Sestito, S.; Concolino, D.; Falcone, E.
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature.
2019-01-01 Bruni, V; Roppa, K; Scionti, F; Apa, R; Sestito, S; DI MARTINO, MARIA TERESA; Pensabene, L; Concolino, D
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.
2012-01-01 Concolino, D; Iembo, Ma; Moricca, Mt; Rapsomaniki, M; Galesi, O; Fichera, M; Romano, C; Strisciuglio, P.; Marotta, R
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limb. (IF 3.128)
1996-01-01 Concolino, D; D., Sperlì; R., Cinti; P., Strisciuglio; G., Andria
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs
1996-01-01 Concolino, D.; Sperli, D.; Cinti, R.; Strisciuglio, P.; Andria, G.
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. (IF 6.365)
2003-01-01 Bonapace, G; Concolino, D; Formicola, S; Strisciuglio, P. The first two authors contributed equally to this work.
A severe form of the tetrasomy 18p syndrome confirmed by in situ hybridization
1998-01-01 Concolino, D.; Ferraro, L.; Cintt, R.; Mussari, A.; Strisciuglio, P.
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus
2023-01-01 Scarpa, Maurizio; Barbato, Antonio; Bisconti, Annalisa; Burlina, Alberto; Concolino, Daniela; Deodato, Federica; Di Rocco, Maja; Dionisi-Vici, Carlo; Donati, Maria Alice; Fecarotta, Simona; Fiumara, Agata; Galeone, Carlotta; Giona, Fiorina; Giuffrida, Gaetano; Manna, Raffaele; Mariani, Paolo; Pession, Andrea; Scopinaro, Annalisa; Spada, Marco; Spandonaro, Federico; Trifirò, Gianluca; Carubbi, Francesca; Cappellini, Maria Domenica
Alport's syndrome
2019-01-01 Bruni, V; Petrisano, M; Tarsitano, F; Falvo, F; Parisi, F; Cucinotta, U; Betta, P; Di Benedetto, V; Scuderi, M G; Pensabene, L; Sestito, S; Cuppari, C; Fede, C; Chimenz, R; Concolino, D
An overview of the main causes of neutropenia in childhood
2019-01-01 Scavone, M.; Carboni, E.; Scozzafava, C.; Anastasio, E.; Concolino, D.
Anderson-Fabry Disease in children.
2013-01-01 Sestito, S; Ceravolo, F; Concolino, D
Anderson-Fabry disease in children: The importance of early diagnosis
2020-01-01 Sestito, S.; Roppa, K.; Petrisano, M.; Pensabene, L.; Parisi, F.; Moricca, M. T.; Concolino, D.
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.
2019-01-01 Concolino, D; Sestito, S; Falvo, F; Romano, G; Ceravolo, M; Anastasio, E; Pensabene, L; Colombo, Ea; Larizza, L
Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria
2021-01-01 Scala, I.; Concolino, D.; Nastasi, A.; Esposito, G.; Crisci, D.; Sestito, S.; Ferraro, S.; Albano, L.; Ruoppolo, M.; Parenti, G.; Strisciuglio, P.
Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria
2024-01-01 Sestito, S.; Brodosi, L.; Ferraro, S.; Carella, R.; De Giovanni, D.; Mita, D.; Moretti, M.; Moricca, M. T.; Concolino, D.; Tummolo, A.
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
2011-01-01 Manara, R; Priante, E; Grimaldi, M; Santoro, L; Astarita, L; Barone, R; Concolino, D; Di Rocco, M; Donati, Ma; Fecarotta, S; Ficcadenti, A; Fiumara, A; Furlan, F; Giovannini, I; Lilliu, F; Mardari, R; Polonara, G; Procopio, E; Rampazzo, A; Rossi, A; Sanna, G; Parini, R; Scarpa, M.
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease
2023-01-01 Riillo, C.; Bonapace, G.; Moricca, M. T.; Sestito, S.; Salatino, A.; Concolino, D.
Cardiac defects in RASopathies: a review of genotype- phenotype correlations
2020-01-01 Loddo, I.; Cutrupi, M. C.; Concolino, D.; De Sarro, R.; Barbalace, A.; Salpietro, A.; Busceti, D.; Ceravolo, M. D.; Calabro, M. P.; Ceravolo, G.; Gambadauro, A.; Cuppari, C.
Cardiac involvement in Lysosomal Storage Diseases
2020-01-01 Sestito, S.; Parisi, F.; Tallarico, V.; Tarsitano, F.; Roppa, K.; Pensabene, L.; Chimenz, R.; Ceravolo, G.; Calabro, M. P.; De Sarro, R.; Moricca, M. T.; Bonapace, G.; Concolino, D.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 17β-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence | 1-gen-2009 | Bertelloni, S; Balsamo, A; Giordani, L; Fischetto, R; Russo, G; Delvecchio, M; Gennari, M; Nicoletti, A; Maggio, Mc; Concolino, D; Cavallo, L; Cicognani, A; Chiumello, G; Hiort, O; Baroncelli, Gi; Faienza, Mf | |
| 7p22.2 Microduplication: A Pathogenic CNV? | 1-gen-2023 | Bauleo, A.; Montesanto, A.; Pace, V.; Guarasci, F.; Apa, R.; Brando, R.; De Stefano, L.; Sestito, S.; Concolino, D.; Falcone, E. | |
| A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature. | 1-gen-2019 | Bruni, V; Roppa, K; Scionti, F; Apa, R; Sestito, S; DI MARTINO, MARIA TERESA; Pensabene, L; Concolino, D | |
| A de novo 8q22.2-24.3 duplication in a patient with mild phenotype. | 1-gen-2012 | Concolino, D; Iembo, Ma; Moricca, Mt; Rapsomaniki, M; Galesi, O; Fichera, M; Romano, C; Strisciuglio, P.; Marotta, R | |
| A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limb. (IF 3.128) | 1-gen-1996 | Concolino, D; D., Sperlì; R., Cinti; P., Strisciuglio; G., Andria | |
| A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs | 1-gen-1996 | Concolino, D.; Sperli, D.; Cinti, R.; Strisciuglio, P.; Andria, G. | |
| A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. (IF 6.365) | 1-gen-2003 | Bonapace, G; Concolino, D; Formicola, S; Strisciuglio, P. The first two authors contributed equally to this work. | |
| A severe form of the tetrasomy 18p syndrome confirmed by in situ hybridization | 1-gen-1998 | Concolino, D.; Ferraro, L.; Cintt, R.; Mussari, A.; Strisciuglio, P. | |
| Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus | 1-gen-2023 | Scarpa, Maurizio; Barbato, Antonio; Bisconti, Annalisa; Burlina, Alberto; Concolino, Daniela; Deodato, Federica; Di Rocco, Maja; Dionisi-Vici, Carlo; Donati, Maria Alice; Fecarotta, Simona; Fiumara, Agata; Galeone, Carlotta; Giona, Fiorina; Giuffrida, Gaetano; Manna, Raffaele; Mariani, Paolo; Pession, Andrea; Scopinaro, Annalisa; Spada, Marco; Spandonaro, Federico; Trifirò, Gianluca; Carubbi, Francesca; Cappellini, Maria Domenica | |
| Alport's syndrome | 1-gen-2019 | Bruni, V; Petrisano, M; Tarsitano, F; Falvo, F; Parisi, F; Cucinotta, U; Betta, P; Di Benedetto, V; Scuderi, M G; Pensabene, L; Sestito, S; Cuppari, C; Fede, C; Chimenz, R; Concolino, D | |
| An overview of the main causes of neutropenia in childhood | 1-gen-2019 | Scavone, M.; Carboni, E.; Scozzafava, C.; Anastasio, E.; Concolino, D. | |
| Anderson-Fabry Disease in children. | 1-gen-2013 | Sestito, S; Ceravolo, F; Concolino, D | |
| Anderson-Fabry disease in children: The importance of early diagnosis | 1-gen-2020 | Sestito, S.; Roppa, K.; Petrisano, M.; Pensabene, L.; Parisi, F.; Moricca, M. T.; Concolino, D. | |
| Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. | 1-gen-2019 | Concolino, D; Sestito, S; Falvo, F; Romano, G; Ceravolo, M; Anastasio, E; Pensabene, L; Colombo, Ea; Larizza, L | |
| Beneficial effects of slow-release large neutral amino acids after a phenylalanine oral load in patients with phenylketonuria | 1-gen-2021 | Scala, I.; Concolino, D.; Nastasi, A.; Esposito, G.; Crisci, D.; Sestito, S.; Ferraro, S.; Albano, L.; Ruoppolo, M.; Parenti, G.; Strisciuglio, P. | |
| Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria | 1-gen-2024 | Sestito, S.; Brodosi, L.; Ferraro, S.; Carella, R.; De Giovanni, D.; Mita, D.; Moretti, M.; Moricca, M. T.; Concolino, D.; Tummolo, A. | |
| Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy | 1-gen-2011 | Manara, R; Priante, E; Grimaldi, M; Santoro, L; Astarita, L; Barone, R; Concolino, D; Di Rocco, M; Donati, Ma; Fecarotta, S; Ficcadenti, A; Fiumara, A; Furlan, F; Giovannini, I; Lilliu, F; Mardari, R; Polonara, G; Procopio, E; Rampazzo, A; Rossi, A; Sanna, G; Parini, R; Scarpa, M. | |
| c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease | 1-gen-2023 | Riillo, C.; Bonapace, G.; Moricca, M. T.; Sestito, S.; Salatino, A.; Concolino, D. | |
| Cardiac defects in RASopathies: a review of genotype- phenotype correlations | 1-gen-2020 | Loddo, I.; Cutrupi, M. C.; Concolino, D.; De Sarro, R.; Barbalace, A.; Salpietro, A.; Busceti, D.; Ceravolo, M. D.; Calabro, M. P.; Ceravolo, G.; Gambadauro, A.; Cuppari, C. | |
| Cardiac involvement in Lysosomal Storage Diseases | 1-gen-2020 | Sestito, S.; Parisi, F.; Tallarico, V.; Tarsitano, F.; Roppa, K.; Pensabene, L.; Chimenz, R.; Ceravolo, G.; Calabro, M. P.; De Sarro, R.; Moricca, M. T.; Bonapace, G.; Concolino, D. |