Sfoglia per Autore
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations
2012-01-01 Capalbo, D; Melis, Daniela; De Martino, L; Palamaro, L; Riccomagno, S; Bona, G; Cordeddu, V; Pignata, C; Salerno, M
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
2012-01-01 Flex, E; Ciolfi, A; Caputo, V; Fodale, V; Leoni, C; Melis, D; Bedeschi, Mf; Mazzanti L, ; Pizzuti, A; Tartaglia, M; Zampino, G
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
2012-01-01 Melis, D; Cappuccio, G; Ginocchio, Vm; Minopoli, G; Valli, M; Corradi, M; Andria, G
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
2012-01-01 Caputo, V; Cianetti, L; Niceta, M; Carta, C; Ciolfi, A; Bocchinfuso, G; Carrani, E; Dentici, Ml; Biamino, E; Belligni, E; Garavelli, L; Boccone, L; Melis, D; Andria, G; Gelb, Bd; Stella, L; Silengo, M; Dallapiccola, B; Tartaglia, M
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome
2012-01-01 Mussa, A; Peruzzi, L; Chiesa, N; De Crescenzo, A; Russo, S; Melis, D; Tarani, L; Baldassarre, G; Larizza, L; Riccio, A; Silengo, M; Ferrero, Gb
Mutations in ZBTB20 cause Primrose syndrome.
2014-01-01 Cordeddu, V; Redeker, B; Stellacci, E; Jongejan, A; Fragale, A; Bradley, Te; Anselmi, M; Ciolfi, A; Cecchetti, S; Muto, V; Bernardini, L; Azage, M; Carvalho, Dr; Espay, Aj; Male, A; Molin, Am; Posmyk, R; Battisti, C; Casertano, A; Melis, D; van Kampen, A; Baas, F; Mannens, Mm; Bocchinfuso, G; Stella, L; Tartaglia, M; Hennekam, Rc
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
2014-01-01 Micale, L; Augello, B; Maffeo, C; Selicorni, A; Zucchetti, F; Fusco, C; De, Nittis P; Pellico, Mt; Mandriani, B; Fischetto, R; Boccone, L; Silengo, M; Biamino, E; Perria, C; Sotgiu, S; Serra, G; Lapi, E; Neri, M; Ferlini, A; Cavaliere, Ml; Chiurazzi, P; Monica, Md; Scarano, G; Faravelli, F; Ferrari, P; Mazzanti, L; Pilotta, A; Patricelli MG, ; Bedeschi, Mf; Benedicenti, F; Prontera, P; Toschi, B; Salviati, L; Melis, D; Di Battista, E; Vancini, A; Garavelli, L; Zelante, L; Merla, G.
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study
2014-01-01 Sechi, A; Deroma, L; Lapolla, A; Paci, S; Melis, D; Burlina, A; Carubbi, F; Rigoldi, M; Di Rocco, M
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review
2014-01-01 Cappuccio, Gerarda; Genesio, R; Ronga, V; Casertano, A; Izzo, Antonella; Riccio, Mp; Bravaccio, Carmela; Salerno, Mariacarolina; Nitsch, Lucio; Andria, Generoso; Melis, Daniela
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype
2014-01-01 Cappuccio, G; Ginocchio, Vm; Maffè, A; Ungari, S; Andria, G; Melis, D
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene
2014-01-01 : Fontana, P; Genesio, R; Casertano, A; Cappuccio, G; Mormile, A; Nitsch, L; Iolascon A, ; Andria, G; Melis, D
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan
2014-01-01 Piccolo, P; Mithbaokar, P; Sabatino, V; Tolmie, J; Melis, D; Schiaffino, Mc; Filocamo, M; Andria, G; Brunetti-Pierri, N.
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: Possible role of microsomal glucose 6-phosphate accumulation
2015-01-01 Melis, D.; Rossi, A.; Pivonello, R.; Salerno, M.; Balivo, F.; Spadarella, S.; Muscogiuri, G.; Casa, R. D.; Formisano, P.; Andria, G.; Colao, A.; Parenti, G.
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation
2015-01-01 Melis, Daniela; Rossi, A; Pivonello, R; Salerno, Mariacarolina; Balivo, Francesca; Spadarella, S; Muscogiuri, G; Casa, Rd; Formisano, Pietro; Andria, Generoso; Colao, Annamaria; Parenti, Giancarlo
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
2015-01-01 Genesio, R.; Fontana, P.; Mormile, A.; Casertano, A.; Falco, M.; Conti, A.; Franzese, A.; Mozzillo, E.; Nitsch, L.; Melis, D.
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases
2015-01-01 Verloes, A.; Di Donato, N.; Masliah-Planchon, J.; Jongmans, M.; Abdul-Raman, O. A.; Albrecht, B.; Allanson, J.; Brunner, H.; Bertola, D.; Chassaing, N.; David, A.; Devriendt, K.; Eftekhari, P.; Drouin-Garraud, V.; Faravelli, F.; Faivre, L.; Giuliano, F.; Guion Almeida, L.; Juncos, J.; Kempers, M.; Eker, H. K.; Lacombe, D.; Lin, A.; Mancini, G.; Melis, D.; Lourenco, C. M.; Siu, V. M.; Morin, G.; Nezarati, M.; Nowaczyk, M. J. M.; Ramer, J. C.; Osimani, S.; Philip, N.; Pierpont, M. E.; Procaccio, V.; Roseli, Z. -S.; Rossi, M.; Rusu, C.; Sznajer, Y.; Templin, L.; Uliana, V.; Klaus, M.; Van Bon, B.; Van Ravenswaaij, C.; Wainer, B.; Fry, A. E.; Rump, A.; Hoischen, A.; Drunat, S.; Riviere, J. -B.; Dobyns, W. B.; Pilz, D. T.
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1
2015-01-01 Santoro, C.; Maietta, A.; Giugliano, T.; Melis, D.; Perrotta, S.; Nigro, V.; Piluso, G.
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings
2015-01-01 Mozzillo, E; Melis, D; Falco, M; Fattorusso, V; Taurisano, R; Flanagan, Se; Ellard, S; Franzese, A
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicentre prospective Italian study.
2015-01-01 Melis, D; Cozzolino, M; Minopoli, G; Balivo, F; Parini, R; Rigoldi, M; Paci, S; Dionisi-Vici, C; Burlina, A; Andria, G; Parenti, G
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
2015-01-01 Verloes, A; Di Donato, N; Masliah-Planchon, J; Jongmans, M; Abdul-Raman, Oa; Albrecht, B; Allanson, J; Brunner, H; Bertola, D; Chassaing, N; David, A; Devriendt, K; Eftekhari, P; Drouin-Garraud, V; Faravelli, F; Faivre, L; Giuliano, F; Guion Almeida, L; Juncos, J; Kempers, M; Eker, Hk; Lacombe, D; Lin, A; Mancini, G; Melis, D; Lourenço, Cm; Siu, Vm; Morin, G; Nezarati, M; Nowaczyk, Mj; Ramer, Jc; Osimani, S; Philip, N; Pierpont, Me; Procaccio, V; Roseli, Zs; Rossi, M; Rusu, C; Sznajer, Y; Templin, L; Uliana, V; Klaus, M; Van Bon, B; Van Ravenswaaij, C; Wainer, B; Fry, Ae; Rump, A; Hoischen, A; Drunat, S; Rivière, Jb; Dobyns, Wb; Pilz, Dt
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations | 1-gen-2012 | Capalbo, D; Melis, Daniela; De Martino, L; Palamaro, L; Riccomagno, S; Bona, G; Cordeddu, V; Pignata, C; Salerno, M | |
| Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome | 1-gen-2012 | Flex, E; Ciolfi, A; Caputo, V; Fodale, V; Leoni, C; Melis, D; Bedeschi, Mf; Mazzanti L, ; Pizzuti, A; Tartaglia, M; Zampino, G | |
| Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? | 1-gen-2012 | Melis, D; Cappuccio, G; Ginocchio, Vm; Minopoli, G; Valli, M; Corradi, M; Andria, G | |
| A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome | 1-gen-2012 | Caputo, V; Cianetti, L; Niceta, M; Carta, C; Ciolfi, A; Bocchinfuso, G; Carrani, E; Dentici, Ml; Biamino, E; Belligni, E; Garavelli, L; Boccone, L; Melis, D; Andria, G; Gelb, Bd; Stella, L; Silengo, M; Dallapiccola, B; Tartaglia, M | |
| Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome | 1-gen-2012 | Mussa, A; Peruzzi, L; Chiesa, N; De Crescenzo, A; Russo, S; Melis, D; Tarani, L; Baldassarre, G; Larizza, L; Riccio, A; Silengo, M; Ferrero, Gb | |
| Mutations in ZBTB20 cause Primrose syndrome. | 1-gen-2014 | Cordeddu, V; Redeker, B; Stellacci, E; Jongejan, A; Fragale, A; Bradley, Te; Anselmi, M; Ciolfi, A; Cecchetti, S; Muto, V; Bernardini, L; Azage, M; Carvalho, Dr; Espay, Aj; Male, A; Molin, Am; Posmyk, R; Battisti, C; Casertano, A; Melis, D; van Kampen, A; Baas, F; Mannens, Mm; Bocchinfuso, G; Stella, L; Tartaglia, M; Hennekam, Rc | |
| Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. | 1-gen-2014 | Micale, L; Augello, B; Maffeo, C; Selicorni, A; Zucchetti, F; Fusco, C; De, Nittis P; Pellico, Mt; Mandriani, B; Fischetto, R; Boccone, L; Silengo, M; Biamino, E; Perria, C; Sotgiu, S; Serra, G; Lapi, E; Neri, M; Ferlini, A; Cavaliere, Ml; Chiurazzi, P; Monica, Md; Scarano, G; Faravelli, F; Ferrari, P; Mazzanti, L; Pilotta, A; Patricelli MG, ; Bedeschi, Mf; Benedicenti, F; Prontera, P; Toschi, B; Salviati, L; Melis, D; Di Battista, E; Vancini, A; Garavelli, L; Zelante, L; Merla, G. | |
| Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study | 1-gen-2014 | Sechi, A; Deroma, L; Lapolla, A; Paci, S; Melis, D; Burlina, A; Carubbi, F; Rigoldi, M; Di Rocco, M | |
| Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review | 1-gen-2014 | Cappuccio, Gerarda; Genesio, R; Ronga, V; Casertano, A; Izzo, Antonella; Riccio, Mp; Bravaccio, Carmela; Salerno, Mariacarolina; Nitsch, Lucio; Andria, Generoso; Melis, Daniela | |
| Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype | 1-gen-2014 | Cappuccio, G; Ginocchio, Vm; Maffè, A; Ungari, S; Andria, G; Melis, D | |
| Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene | 1-gen-2014 | : Fontana, P; Genesio, R; Casertano, A; Cappuccio, G; Mormile, A; Nitsch, L; Iolascon A, ; Andria, G; Melis, D | |
| SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan | 1-gen-2014 | Piccolo, P; Mithbaokar, P; Sabatino, V; Tolmie, J; Melis, D; Schiaffino, Mc; Filocamo, M; Andria, G; Brunetti-Pierri, N. | |
| Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: Possible role of microsomal glucose 6-phosphate accumulation | 1-gen-2015 | Melis, D.; Rossi, A.; Pivonello, R.; Salerno, M.; Balivo, F.; Spadarella, S.; Muscogiuri, G.; Casa, R. D.; Formisano, P.; Andria, G.; Colao, A.; Parenti, G. | |
| Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation | 1-gen-2015 | Melis, Daniela; Rossi, A; Pivonello, R; Salerno, Mariacarolina; Balivo, Francesca; Spadarella, S; Muscogiuri, G; Casa, Rd; Formisano, Pietro; Andria, Generoso; Colao, Annamaria; Parenti, Giancarlo | |
| Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome | 1-gen-2015 | Genesio, R.; Fontana, P.; Mormile, A.; Casertano, A.; Falco, M.; Conti, A.; Franzese, A.; Mozzillo, E.; Nitsch, L.; Melis, D. | |
| Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases | 1-gen-2015 | Verloes, A.; Di Donato, N.; Masliah-Planchon, J.; Jongmans, M.; Abdul-Raman, O. A.; Albrecht, B.; Allanson, J.; Brunner, H.; Bertola, D.; Chassaing, N.; David, A.; Devriendt, K.; Eftekhari, P.; Drouin-Garraud, V.; Faravelli, F.; Faivre, L.; Giuliano, F.; Guion Almeida, L.; Juncos, J.; Kempers, M.; Eker, H. K.; Lacombe, D.; Lin, A.; Mancini, G.; Melis, D.; Lourenco, C. M.; Siu, V. M.; Morin, G.; Nezarati, M.; Nowaczyk, M. J. M.; Ramer, J. C.; Osimani, S.; Philip, N.; Pierpont, M. E.; Procaccio, V.; Roseli, Z. -S.; Rossi, M.; Rusu, C.; Sznajer, Y.; Templin, L.; Uliana, V.; Klaus, M.; Van Bon, B.; Van Ravenswaaij, C.; Wainer, B.; Fry, A. E.; Rump, A.; Hoischen, A.; Drunat, S.; Riviere, J. -B.; Dobyns, W. B.; Pilz, D. T. | |
| Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 | 1-gen-2015 | Santoro, C.; Maietta, A.; Giugliano, T.; Melis, D.; Perrotta, S.; Nigro, V.; Piluso, G. | |
| Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings | 1-gen-2015 | Mozzillo, E; Melis, D; Falco, M; Fattorusso, V; Taurisano, R; Flanagan, Se; Ellard, S; Franzese, A | |
| Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicentre prospective Italian study. | 1-gen-2015 | Melis, D; Cozzolino, M; Minopoli, G; Balivo, F; Parini, R; Rigoldi, M; Paci, S; Dionisi-Vici, C; Burlina, A; Andria, G; Parenti, G | |
| Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 1-gen-2015 | Verloes, A; Di Donato, N; Masliah-Planchon, J; Jongmans, M; Abdul-Raman, Oa; Albrecht, B; Allanson, J; Brunner, H; Bertola, D; Chassaing, N; David, A; Devriendt, K; Eftekhari, P; Drouin-Garraud, V; Faravelli, F; Faivre, L; Giuliano, F; Guion Almeida, L; Juncos, J; Kempers, M; Eker, Hk; Lacombe, D; Lin, A; Mancini, G; Melis, D; Lourenço, Cm; Siu, Vm; Morin, G; Nezarati, M; Nowaczyk, Mj; Ramer, Jc; Osimani, S; Philip, N; Pierpont, Me; Procaccio, V; Roseli, Zs; Rossi, M; Rusu, C; Sznajer, Y; Templin, L; Uliana, V; Klaus, M; Van Bon, B; Van Ravenswaaij, C; Wainer, B; Fry, Ae; Rump, A; Hoischen, A; Drunat, S; Rivière, Jb; Dobyns, Wb; Pilz, Dt |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile