Sfoglia per Autore
MARK4 : a tricky balance of L and S isoforms rules glial differentiation and glioma progression
2010 I. Magnani, C. Novielli, S. Tabano, L. Fontana, R.F. Moroni, E.A. Colombo, L. Monti, L. Bello, D. Bauer, S. Mazzoleni, R. Galli, G. Porta, C. Frassoni, L. Larizza
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene
2010 L. Volpi, G. Roversi, E.A. Colombo, N. Leijsten, D. Concolino, A. Calabria, M.A. Mencarelli, M. Fimiani, F. Macciardi, R. Pfundt, E.F. Schoenmakers, L. Larizza
Clericuzio-Type Poikiloderma With Neutropenia Syndrome in Three Sibs With Mutations in the C16orf57 Gene : Delineation of the Phenotype
2010 D. Concolino, G. Roversi, G.L. Muzzi, S. Sestito, E.A. Colombo, L. Volpi, L. Larizza, P. Strisciuglio
Poikiloderma with neutropenia: Delineation of novel mutations and geographic clusters
2010 E. Colombo, G. Roversi, N. Elcioglu, G. Fremont, L. Volpi, L. Larizza
Differential signature of the centrosomal MARK4 isoforms in glioma
2011 I. Magnani, C. Novielli, L. Fontana, S. Tabano, D. Rovina, R.F. Moroni, D. Bauer, S. Mazzoleni, E.A. Colombo, G. Tedeschi, L. Monti, G. Porta, S. Bosari, C. Frassoni, R. Galli, L. Bello, L. Larizza
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
2012 E.A. Colombo, J..F. Bazan, G. Negri, C.C.G. Gervasini, N..H. Elcioglu, D. Yucelten, I. Altunay, U. Cetincelik, A. Teti, A. Del Fattore, M. Luciani, S..K. Sullivan, A..C. Yan, L. Volpi, L. Larizza
NUOVE MUTAZIONI DEL GENE C16orf57 IN PAZIENTI AFFETTI DA POICHILODERMA CON NEUTROPENIA: ANALISI BIOINFORMATICA DELLA PROTEINA E PREDIZIONE DELL’EFFETTO DI TUTTE LE MUTAZIONI NOTE
2012 G. Negri, E. Colombo, F. Bazan, C. Gervasini, N. Elcioglu, I. Ialtunay, M. Luciani, A. Yan, L. Volpi, L. Larizza
ANALISI SEMIQUANTITATIVA DELL’ESPRESSIONE DELLE ISOFORME DEL GENE C16orf57 IN UN PANNELLO DI LINEE CELLULARI E TESSUTI ED IN PAZIENTI CON POICHILODERMA CON NEUTROPENIA
2012 L. Fontana, G. Negri, E.A. Colombo, L. Larizza
SINDROME DI ROTHMUND-THOMSON: CARATTERIZZAZIONE CLINICO-MOLECOLARE DI TRE NUOVI PAZIENTI
2012 E.A. Colombo, L. Fontana, G. Roversi, G. Negri, M. Paradisi, D. Castiglia, A. Locatelli, G. Zambruno, L. Larizza
Clinical utility gene card for: poikiloderma with neutropenia
2013 L. Larizza, G. Negri, E.A. Colombo, L. Volpi, Y. Sznajer
USB1 (U6 snRNA biogenesis 1)
2014 E. Colombo
VIABLE PHENOTYPE ASSOCIATED WITH NOVEL MUTATIONS OF INTEGRIN 3, ENCODING A LAMININS RECEPTOR INVOLVED IN STRUCTURAL AND FUNCTIONAL ORGANIZATION OF LUNG, KIDNEY AND SKIN EPITHELIA
2014 E. Colombo, L. Spaccini, G. Negri, L. Volpi, C. Gervasini, D. Lazarevic, A. Farolfi, D. Cittaro, L. Larizza
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype
2014 E.A. Colombo, L. Fontana, G. Roversi, G. Negri, D. Castiglia, M. Paradisi, G. Zambruno, L. Larizza
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms
2015 G. Negri, B. Crescenzi, E.A. Colombo, L. Fontana, G. Barba, F. Arcioni, C. Gervasini, C. Mecucci, L. Larizza
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor
2015 E.A. Colombo, S. Carra, L. Fontana, E. Bresciani, F. Cotelli, L. Larizza
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
2016 E.A. Colombo, L. Spaccini, L. Volpi, G. Negri, D. Cittaro, D. Lazarevic, S. Zirpoli, A. Farolfi, C. Gervasini, M.V. Cubellis, L. Larizza
Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib
2017 D. Gupta, L. Chandrashekar, L. Larizza, E.A. Colombo, L. Fontana, C. Gervasini, D.M. Thappa, M. Rajappa, K.S. Rajendiran, G.S. Sreenath, V. Kate
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome
2018 E.A. Colombo, A. Locatelli, L. Cubells Sánchez, S. Romeo, N.H. Elcioglu, I. Maystadt, A.E. Martínez, A. Sironi, L. Fontana, P. Finelli, C. Gervasini, V. Pecile, L. Larizza
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants
2018 E.A. Colombo, N.H. Elcioglu, C. Graziano, P. Farinelli, E. DI FEDE, I. Neri, E. Facchini, M. Greco, C. Gervasini, L. Larizza
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders
2019 G. Negri, P. Magini, D. Milani, M. Crippa, E. Biamino, M. Piccione, S. Sotgiu, C. Perrìa, G. Vitiello, M. Frontali, A. Boni, E. Di Fede, M.C. Gandini, E.A. Colombo, M.J. Bamshad, D.A. Nickerson, J.D. Smith, I. Loddo, P. Finelli, M. Seri, T. Pippucci, L. Larizza, C. Gervasini
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