BOARETTO, FRANCESCA
BOARETTO, FRANCESCA
Dipartimento di Biologia - DiBio
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.
2000 Vazza, Giovanni; Zortea, M; Boaretto, Francesca; Micaglio, Gf; Sartori, V; Mostacciuolo, Ml
A new mutation in two siblings with cystinosis presenting with Bartter syndrome.
2005 Pennesi, M; Marchetti, F; Crovella, S; Boaretto, Francesca; Travan, L; Lazzerini, M; Neri, E; Ventura, A.
A novel missense mutation in the L1CAM gene in a boy with L1 disease
2006 Simonati, A; Boaretto, Francesca; Vettori, Andrea; Dabrilli, P; Criscuolo, L; Rizzuto, N; Mostacciuolo, MARIA LUISA
A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype
2013 Occhi, Gianluca; Regazzo, Daniela; Trivellin, G; Boaretto, Francesca; Ciato, Denis; Bobisse, S; Ferasin, Sergio; Cetani, F; Pardi, E; Korbonits, M; Pellegata, Ns; Sidarovich, V; Quattrone, A; Opocher, Giuseppe; Mantero, Franco; Scaroni, Carla
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
2013 Gregianin, Elisa; Vazza, Giovanni; Scaramel, E; Boaretto, Francesca; Vettori, Andrea; Leonardi, Emanuela; Tosatto, Silvio; Manara, R; Pegoraro, Elena; Mostacciuolo, MARIA LUISA
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
2003 Rampoldi, L; Caridi, G; Santon, D; Boaretto, Francesca; Bernascone, I; Lamorte, G; Tardanico, R; Dagnino, M; Colussi, G; Scolari, F; Ghiggeri, Gm; Amoroso, A; Casari, G.
c.1392+2T>C mutation in MFN2 gene affects splicing in Charcot-Marie-Tooth (CMT) 2A family.
2008 Vettori, Andrea; Boaretto, Francesca; Vazza, Giovanni; Muglia, M; Martinuzzi, A; Paticucci, A; Bertolin, A; Bergamin, Giorgia; Quattrone, G; Mostacciuolo, MARIA LUISA
CLINICAL AND ELECTROPHYSIOLOGICAL SPECTRUM IN A GROUP OF SPORADIC DISTAL MOTOR NEUROPATHIES
2012 Ec, Ienco; C., Carlesi; C., Simoncini; A., Logerfo; S., Piazza; Boaretto, Francesca; Mostacciuolo, MARIA LUISA; G., Siciliano
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients
2016 Boaretto, Francesca; Snijders, Deborah; Salvoro, Cecilia; Spalletta, Ambra; Mostacciuolo, MARIA LUISA; Collura, Mirella; Cazzato, Salvatore; Girosi, Donatella; Silvestri, Michela; Rossi, Giovanni Arturo; Barbato, Angelo; Vazza, Giovanni
Evaluation of linkage signals in a subset of families with high recurrence of schizophrenia and bipolar disorder originating from Chioggia
2007 Bertolin, Cinzia; Vazza, Giovanni; Vettori, Andrea; Boaretto, Francesca; Scudellaro, E; Rampinelli, Sabina; DE SANCTIS, G; Perini, Giulia; Peruzzi, P; Mostacciuolo, MARIA LUISA
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.
2008 Striano, P; Gambardella, A; Coppola, A; Di Bonaventura, C; Bovo, G; Diani, E; Boaretto, Francesca; Egeo, G; Ciampa, C; Labate, A; Testoni, S; Passarelli, D; Manna, I; Sferro, C; Aguglia, U; Caranci, F; Giallonardo, At; Striano, S; Nobile, C; Michelucci, R.
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache"
2016 Bukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, Nicoletta
Genetics of adrenal tumors.
2009 Opocher, Giuseppe; Schiavi, F; Cicala, Mv; Patalano, A; Mariniello, B; Boaretto, Francesca; Zovato, S; Pignataro, V; Macino, B; Negro, I; Mantero, Franco
Genome scan for schizophrenia/bipolar disorder supports a susceptibility locus in 15q26
2006 Vazza, Giovanni; C., Bertolin; E., Scudellaro; Vettori, Andrea; Boaretto, Francesca; S., Rampinelli; G. D., Sanctis; Perini, Giulia; P., Peruzzi; Mostacciuolo, MARIA LUISA
Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26
2007 Vazza, Giovanni; Bertolin, Cinzia; Scudellaro, E; Vettori, Andrea; Boaretto, Francesca; Rampinelli, Sabina; DE SANCTIS, G; Perini, Giulia; Peruzzi, P; Mostacciuolo, MARIA LUISA
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
2010 Qin, Y; Yao, L; King, Ee; Buddavarapu, K; Lenci, Re; Chocron, Es; Lechleiter, Jd; Sass, M; Aronin, N; Schiavi, F; Boaretto, Francesca; Opocher, Giuseppe; Toledo, Ra; Toledo, Sp; Stiles, C; Aguiar, Rc; Dahia, Pl
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites
2014 Manno, Nicola; Sam, Sherratt; Boaretto, Francesca; Freddy Mejìa, Coico; Carolina Espinoza, Camus; Cesar Jara, Campos; Salvatore, Musumeci; Battisti, Andrea; Rupert J., Quinnell; José Mostacero, Leon; Vazza, Giovanni; Mostacciuolo, MARIA LUISA; Paoletti, Maurizio; Franco H., Falcone
Individuation of new mutations in L1CAM gene in patients with L1 diseases.
2008 Boaretto, Francesca; Bertolin, Cinzia; Vazza, Giovanni; Garavelli, G; DELLA GIUSTINA, E; Divizia, Mt; Vettori, Andrea; Mostacciuolo, MARIA LUISA
Individuazione e caratterizzazione di geni implicati nelle paraparesi spastiche ereditarie
2009 Boaretto, Francesca
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation
2003 Dalpozzo, F.; Rossetto, M. G.; Boaretto, Francesca; Sartori, Elena; Mostacciuolo, MARIA LUISA; Daga, A.; Bassi, M. T.; Martinuzzi, A.