VOLPI, LUDOVICA
VOLPI, LUDOVICA
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale
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
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
Clinical utility gene card for: poikiloderma with neutropenia
2013 L. Larizza, G. Negri, E.A. Colombo, L. Volpi, Y. Sznajer
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
Poikiloderma with neutropenia: Delineation of novel mutations and geographic clusters
2010 E. Colombo, G. Roversi, N. Elcioglu, G. Fremont, L. Volpi, 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
Rothmund-Thomson syndrome
2010 L. Larizza, G. Roversi, L. Volpi
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
Letter in response to “RNA processing effects of the Helicase gene RECQL4 in a compound Heterozygous Rothmund-Thomson patient
2004 L. Volpi
Mutation analysis of the BRCA1 gene in Malaysian breast cancer patients
2002 P. Balraj, A.S.B. Khoo, L. Volpi, J.A.M.A. Tan, S. Nair, H. Abdullah
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome
2002 P. Balraj, P. Concannon, R. Jamal, A. Beghini, T. S. Hoe, A. S. Khoo, L. Volpi
A new BRCA1 germline mutation (E879X) in a Malaysian breast cancer patient of Chinese descent
2000 A.S. Khoo, P. Balraj, L. Volpi, S. Nair
A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree
1999 A.S. Khoo, P. Balraj, A. Rachedi, C.N. Chin, L. Volpi
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome
1998 M. Miozzo, P. Castorina, P. Riva, L. Dalprà, A. M. Fuhrman Conti, L. Volpi, T. S. Hoe, A. Khoo, J. Wiegant, C. Rosenberg, L. Larizza
Localization of fos, jun, kit and SCF mRNA in human placenta throughout gestation using in situ RT-PCR
1997 L. Doneda, G. Bulfamante, M.G. Grimoldi, L. Volpi, L. Larizza
An improved procedure for in situ RTPCR
1996 L. Volpi, L. Doneda, M. G. Grimoldi, E. Pollina, L. Larizza
Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma
1996 D. Bettio, D. Giardino, N. Rizzi, P. Riva, L. Volpi, E. Barantani, A. Tagliaferri, L. Larizza
Microsatellite instability in IVS3 of murine c-fes gene: tumor-associated rearrangement and mammalian divergence
1996 L. Volpi, A. Beghini, D. Rossi, L. Larizza
On the paternal origin of the chromosomes in a 49,XXXXX fetus.
1994 L. Volpi, P. Riva, L. Dalprà, M.G. Tibiletti, P. Vergani, L. Larizza