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Author/Creator Ceccherini, I

1. A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes. Issue 1 (December 2015)

Authors:
Rusmini, M; Federici, S; Caroli, F; Grossi, A; Baldi, M; Obici, L; Insalaco, A; Tommasini, A; Caorsi, R; Gallo, E; Olivieri, AN; Marzano, AV; Coviello, D; Ravazzolo, R; Martini, A; Gattorno, M; Ceccherini, I
Journal:
Pediatric rheumatology online journal
Issue:
Volume 13:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes. Issue 1 (December 2015)

Authors:
Rusmini, M; Federici, S; Caroli, F; Grossi, A; Baldi, M; Obici, L; Insalaco, A; Tommasini, A; Caorsi, R; Gallo, E; Olivieri, AN; Marzano, AV; Coviello, D; Ravazzolo, R; Martini, A; Gattorno, M; Ceccherini, I
Journal:
Pediatric rheumatology online journal
Issue:
Volume 13:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. B cells characterization in ADA2 Deficiency patients. Issue 1 (December 2015)

Authors:
Schena, F; Volpi, S; Caorsi, R; Pastorino, C; Penco, F; Kalli, F; Omenetti, A; Chiesa, S; Bertoni, A; Picco, P; Filaci, G; Aksentijevich, I; Grossi, A; Ceccherini, I; Martini, A; Traggiai, E; Gattorno, M
Journal:
Pediatric rheumatology online journal
Issue:
Volume 13:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Cryopyrin associated periodic syndromes (CAPS): immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome. Issue 1 (December 2015)

Authors:
Bertoni, A; Carta, S; Balza, E; Catellani, P; Pellecchia, C; Penco, F; Schena, F; Borghini, S; Trotta, ML; Pastorino, C; Ceccherini, I; Martini, A; Rubartelli, A; Gattorno, M; Chiesa, S
Journal:
Pediatric rheumatology online journal
Issue:
Volume 13:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Cryopyrin associated periodic syndromes (CAPS): immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome. Issue 1 (December 2015)

Authors:
Bertoni, A; Carta, S; Balza, E; Catellani, P; Pellecchia, C; Penco, F; Schena, F; Borghini, S; Trotta, ML; Pastorino, C; Ceccherini, I; Martini, A; Rubartelli, A; Gattorno, M; Chiesa, S
Journal:
Pediatric rheumatology online journal
Issue:
Volume 13:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Issue 10 (1st June 2012)

Authors:
Shinar, Y; Obici, L; Aksentijevich, I; Bennetts, B; Austrup, F; Ceccherini, I; Costa, J M; De Leener, A; Gattorno, M; Kania, U; Kone-Paut, I; Lezer, S; Livneh, A; Moix, I; Nishikomori, R; Ozen, S; Phylactou, L; Risom, L; Rowczenio, D; Sarkisian, T
Journal:
Annals of the rheumatic diseases
Issue:
Volume 71:Issue 10(2012)
Page Start:
1599
Record Type:
Journal Article
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7. Hirschsprung disease, associated syndromes and genetics: a review. Issue 1 (26th October 2007)

Authors:
Amiel, J; Sproat-Emison, E; Garcia-Barcelo, M; Lantieri, F; Burzynski, G; Borrego, S; Pelet, A; Arnold, S; Miao, X; Griseri, P; Brooks, A S; Antinolo, G; de Pontual, L; Clement-Ziza, M; Munnich, A; Kashuk, C; West, K; Wong, K K-Y; Lyonnet, S; Chakravarti, A
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 1(2008)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

8. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. Issue 5 (30th April 2004)

Authors:
Matera, I; Bachetti, T; Puppo, F; Di Duca, M; Morandi, F; Casiraghi, G M; Cilio, M R; Hennekam, R; Hofstra, R; Schöber, J G; Ravazzolo, R; Ottonello, G; Ceccherini, I
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 5(2004)
Page Start:
373
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗