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Mutational analysis of the RNX gene in congenital central hypoventilation syndrome 1-gen-2002 Matera, I; Bachetti, T; Cinti, R; Lerone, M; Gagliardi, L; Morandi, F; Motta, M; Mosca, F; Ottonello, G; Piumelli, R; Schober, Jg; Ravazzolo, Roberto; Ceccherini, I.
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 1-gen-2004 Matera, I; Bachetti, T; Puppo, F; DI DUCA, M; Moranti, F; Casiraghi, Gm; Cilio, Mr; Hennekam, R; Hofstra, R; Schober, Jg; Ravazzolo, Roberto; Ottonello, G; Ceccherini, I.
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome 1-gen-2005 Bachetti, T; Matera, I; Borghini, S; DI DUCA, M; Ravazzolo, Roberto; Ceccherini, I.
An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene 1-gen-2005 Bachetti, T; Borghini, S; Ravazzolo, Roberto; Ceccherini, I.
PHOX2B mutations and genetic predisposition to neuroblastoma 1-gen-2005 Perri, P.; Bachetti, T.; Longo, L.; Matera, I.; Seri, M.; Tonini, G. P.; Ceccherini, I.
A COMMON HAPLOTYPE AT THE 5' END OF THE RET PROTO-ONCOGENE, OVERREPRESENTED IN HIRSCHSPRUNG PATIENTS, IS ASSOCIATED WITH REDUCED GENE EXPRESSION 1-gen-2005 Griseri, P; Bachetti, T; Puppo, F; Lantieri, Francesca; Ravazzolo, Roberto; Devoto, M; Ceccherini, I.
Comparative genomic sequence analysis coupled to Chromatin Immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locus 1-gen-2005 Puppo, F; Musso, M; Pirulli, D; Griseri, P; Bachetti, T; Crovella, S; Patrone, G; Ceccherini, I; Ravazzolo, Roberto
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome 1-gen-2006 Bachetti, T; Robbiano, A; Parodi, S; Matera, I; Merello, E; Capra, V; Baglietto, Mp; Rossi, A; Ceccherini, I; Ottonello, G.
The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells 1-gen-2006 Borghini, S; Bachetti, Tiziana; Fava, M; DI DUCA, M; Cargnin, F; Fornasari, D; Ravazzolo, Roberto; Ceccherini, I.
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions 1-gen-2007 Bachetti, T.; Bocca, P.; Borghini, S.; Matera, I.; Prigione, I.; Ravazzolo, R.; Ceccherini, I.
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease 1-gen-2007 Griseri, P; Lantieri, Francesca; Puppo, F; Bachetti, T; DI DUCA, M; Ravazzolo, Roberto; Ceccherini, I.
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes 1-gen-2007 Borghini, S; DI DUCA, M; Santamaria, G; Vargiolu, M; Bachetti, T; Cargnin, F; PINI PRATO, A; DE GIORGIO, R; Lerone, M; Stanghellini, V; Jasonni, V; Fornasari, D; Ravazzolo, Roberto; Ceccherini, I.
MILD FUNCTIONAL EFFECTS OF A NOVEL GFAP MUTANT ALLELE IDENTIFIED IN A FAMILIAL CASE OF ADULT-ONSET ALEXANDER DISEASE 1-gen-2008 Bachetti, T; Caroli, F; Bocca, P; Prigione, I; Balbi, P; Biancheri, R; Filocamo, M; Mariotti, C; Pareyson, D; Ravazzolo, Roberto; Ceccherini, I.
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma 1-gen-2008 Longo, L.; Borghini, S.; Schena, Federico; Parodi, S.; Albino, D.; Bachetti, T.; Da Prato, L.; Truini, M.; Gambini, C.; Tonini, G. P.; Ceccherini, I.; Perri, Piera
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome 1-gen-2008 Parodi, S; Bachetti, T; Lantieri, Francesca; DI DUCA, M; Santamaria, G; Ottonello, G; Matera, I; Ravazzolo, Roberto; Ceccherini, I.
Functional characterization of a minimal sequence essential for the expression of human TLX2 gene 1-gen-2009 Borghini, S; Bachetti, T; Fava, M; DI DUCA, M; Ravazzolo, Roberto; Ceccherini, I.
PHOX2B-mediated regulation of ALK expression: In vitro identification of a functional relationship between two genes involved in neuroblastoma 1-gen-2010 Bachetti, T.; Di Paolo, D.; Di Lascio, S.; Mirisola, V.; Brignole, C.; Bellotti, M.; Caffa, I.; Ferraris, C.; Fiore, M.; Fornasari, D.; Chiarle, R.; Borghini, S.; Pfeffer, U.; Ponzoni, M.; Ceccherini, I.; Perri, P.
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes J Neuropathol Exp Neurol 2010;69:335-45 1-gen-2010 Sechi, G.; Balbi, P.; Bachetti, T.; Ceccherini, I.
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities 1-gen-2010 Bachetti, T; DI ZANNI, E; Lantieri, Francesca; Caroli, F; Regis, S; Filocamo, M; Rainero, I; Gallone, S; Cilia, R; Romano, S; Savoiardo, M; Pareyson, D; Biancheri, R; Ravazzolo, Roberto; Ceccherini, I.
Ceftriaxone has a therapeutic role in Alexander disease 1-gen-2010 Sechi, G.; Balbi, P.; Bachetti, T.; Matta, M.; Serra, A.; Deiana, G. A.; Di Zanni, E.; Ceccherini, I.
Mostrati risultati da 1 a 20 di 52
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