RUGGIERI, MARTINO
RUGGIERI, MARTINO
Istituto di Scienze Neurologiche - ISN - Sede Mangone (attivo dal 18/11/1923 al 31/12/2021)
A child with congenital heart disease and situs viscerum inversus.
2008 Pavone, P; Praticò, Ad; Di Giorgio, A; Incorpora, G; Ruggieri, M
A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2
2007 A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father
2007 A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone
A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER
2007 A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone
Absence of heart abnormalities in subjects not carryng large NF1 gene deletions
2005 A.L. Gabriele; M. Ruggieri; C. Nucifora; C. Mattia; T. Sprovieri; A. Patitucci; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; G. Distefano; P. Sciacca; R. Falsaperla; M. Muglia; A. Quattrone.
Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni
2004 Peluso, G; Ruggieri, M; Sprovieri, T; Muglia, M; Patitucci, A; Magariello, A; Conforti, Fl; Mazzei, R; Ungaro, C; Quattrone, A; Gabriele, A
Bilateral periventricular nodular heterotopia with amniotic band syndrome
2007 Ruggieri M; Spalice A; Polizzi A; Roggini M; Iannetti P.
Callosal anomalies with interhemispheric cyst: expanding the phenotype
2005 Pavone, P; Barone, R; Baieli, S; Parano, E; Incorpora, G; Ruggieri, M
Cataracts in the setting of a neurocutaneous malformation syndrome with cutis tricolor
2008 Ruggieri, M; Iannetti, F; Polizzi, A; Puzo, L; Di Pietro, M; Caltabiano, R; Iannetti, L; Magro, G; Iannetti, P
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
2004 Upadhyaya, M; Han, S; Consoli, C; Majounie, E; Horan, M; Thomas, Ns; Potts, C; Griffiths, S; Ruggieri, M; von Deimling, A; Cooper, Dn
Choroidal abnormalities and mental retardation in neurofibromatosis type 1
2001 Ruggieri M. ; Polizzi A.
Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study.
2007 Banwell, B; Krupp, L; Kennedy, J; Tellier, R; Tenembaum, S; Ness, J; Belman, A; Boiko, A; Bykova, O; Waubant, E; Mah, Jk; Stoian, C; Kremenchutzky, M; Bardini, Mr; Ruggieri, M; Rensel, M; Hahn, J; Weinstockguttman, B; Yeh, Ea; Farrell, K; Freedman, M; Iivanainen, M; Sevon, M
Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.
2008 Pavone, P; Lucenti, C; Fraggetta, F; Micali, G; Incorpora, G; Ruggieri, M
Delineation of a newly recognised neurocutaneous malformation syndrome with cutis tricolor
2003 Ruggieri, M; Iannetti, P; Pavone, L
Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.
2005 Ruggieri, M; Iannetti, P; Polizzi, A; La Mantia, I; Spalice, A; Giliberto, O; Platania, N; Gabriele, Al; Albanese, V; Pavone, L
Familial infantile hypertrophic pyloric stenosis.
2008 Romantshik O; Carpinato C; CastellanoChiodo D; Ruggieri M; Pavone P.
From Aldrovandi's Homuncio (1592) to Buffon s girl (1749) and the Wart Man of Tilesisus (1793): antique illustrations of mosaicism in neurofibromatosis ?
2003 Ruggieri, M; Polizzi, A
Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome
2005 Polizzi A; Pavone P; Ciancio E; La Rosa C; Sorge G; Ruggieri M
Hypomelanosis of Ito
2006 Pavone, L; Ruggieri, M; Pavone, P; Savasta, S; Spalice, A; Iannetti, P
Infantile spasms in the setting of Sturge-Weber syndrome.
2008 Barbagallo, M; Ruggieri, M; Incorpora, G; Pavone, P; Nucifora, C; Spalice, A; Praticò, Ad; Polizzi, A; Pavone, L; Iannetti, P
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A child with congenital heart disease and situs viscerum inversus. | 1-gen-2008 | Pavone, P; Praticò, Ad; Di Giorgio, A; Incorpora, G; Ruggieri, M | |
| A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 | 1-gen-2007 | A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone | |
| A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father | 1-gen-2007 | A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone | |
| A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER | 1-gen-2007 | A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone | |
| Absence of heart abnormalities in subjects not carryng large NF1 gene deletions | 1-gen-2005 | A.L. Gabriele; M. Ruggieri; C. Nucifora; C. Mattia; T. Sprovieri; A. Patitucci; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; G. Distefano; P. Sciacca; R. Falsaperla; M. Muglia; A. Quattrone. | |
| Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni | 1-gen-2004 | Peluso, G; Ruggieri, M; Sprovieri, T; Muglia, M; Patitucci, A; Magariello, A; Conforti, Fl; Mazzei, R; Ungaro, C; Quattrone, A; Gabriele, A | |
| Bilateral periventricular nodular heterotopia with amniotic band syndrome | 1-gen-2007 | Ruggieri M; Spalice A; Polizzi A; Roggini M; Iannetti P. | |
| Callosal anomalies with interhemispheric cyst: expanding the phenotype | 1-gen-2005 | Pavone, P; Barone, R; Baieli, S; Parano, E; Incorpora, G; Ruggieri, M | |
| Cataracts in the setting of a neurocutaneous malformation syndrome with cutis tricolor | 1-gen-2008 | Ruggieri, M; Iannetti, F; Polizzi, A; Puzo, L; Di Pietro, M; Caltabiano, R; Iannetti, L; Magro, G; Iannetti, P | |
| Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors | 1-gen-2004 | Upadhyaya, M; Han, S; Consoli, C; Majounie, E; Horan, M; Thomas, Ns; Potts, C; Griffiths, S; Ruggieri, M; von Deimling, A; Cooper, Dn | |
| Choroidal abnormalities and mental retardation in neurofibromatosis type 1 | 1-gen-2001 | Ruggieri M. ; Polizzi A. | |
| Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study. | 1-gen-2007 | Banwell, B; Krupp, L; Kennedy, J; Tellier, R; Tenembaum, S; Ness, J; Belman, A; Boiko, A; Bykova, O; Waubant, E; Mah, Jk; Stoian, C; Kremenchutzky, M; Bardini, Mr; Ruggieri, M; Rensel, M; Hahn, J; Weinstockguttman, B; Yeh, Ea; Farrell, K; Freedman, M; Iivanainen, M; Sevon, M | |
| Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. | 1-gen-2008 | Pavone, P; Lucenti, C; Fraggetta, F; Micali, G; Incorpora, G; Ruggieri, M | |
| Delineation of a newly recognised neurocutaneous malformation syndrome with cutis tricolor | 1-gen-2003 | Ruggieri, M; Iannetti, P; Pavone, L | |
| Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. | 1-gen-2005 | Ruggieri, M; Iannetti, P; Polizzi, A; La Mantia, I; Spalice, A; Giliberto, O; Platania, N; Gabriele, Al; Albanese, V; Pavone, L | |
| Familial infantile hypertrophic pyloric stenosis. | 1-gen-2008 | Romantshik O; Carpinato C; CastellanoChiodo D; Ruggieri M; Pavone P. | |
| From Aldrovandi's Homuncio (1592) to Buffon s girl (1749) and the Wart Man of Tilesisus (1793): antique illustrations of mosaicism in neurofibromatosis ? | 1-gen-2003 | Ruggieri, M; Polizzi, A | |
| Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome | 1-gen-2005 | Polizzi A; Pavone P; Ciancio E; La Rosa C; Sorge G; Ruggieri M | |
| Hypomelanosis of Ito | 1-gen-2006 | Pavone, L; Ruggieri, M; Pavone, P; Savasta, S; Spalice, A; Iannetti, P | |
| Infantile spasms in the setting of Sturge-Weber syndrome. | 1-gen-2008 | Barbagallo, M; Ruggieri, M; Incorpora, G; Pavone, P; Nucifora, C; Spalice, A; Praticò, Ad; Polizzi, A; Pavone, L; Iannetti, P |