Sfoglia per Autore
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations
2018-01-01 Morgan, Anna; Lenarduzzi, Stefania; Cappellani, Stefania; Pecile, Vanna; Morgutti, Marcello; Orzan, Eva; Ghiselli, Sara; Ambrosetti, Umberto; Brumat, Marco; Gajendrarao, Poornima; La Bianca, Martina; Faletra, Flavio; Grosso, Enrico; Sirchia, Fabio; Sensi, Alberto; Graziano, Claudio; Seri, Marco; Gasparini, Paolo; Girotto, Giorgia
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
2019-01-01 Morgan, A.; Koboldt, D. C.; Barrie, E. S.; Crist, E. R.; Garcia Garcia, G.; Mezzavilla, M.; Faletra, F.; Mihalic Mosher, T.; Wilson, R. K.; Blanchet, C.; Manickam, K.; Roux, A. -F.; Gasparini, P.; Dell'Orco, D.; Girotto, G.
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes
2019-01-01 Piscianz, E.; Conversano, E.; Bianco, A. M.; Faletra, F.; Tommasini, A.; Valencic, E.
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss
2019-01-01 Lenarduzzi, S.; Morgan, A.; Faletra, F.; Cappellani, S.; Morgutti, M.; Mezzavilla, M.; Peruzzi, A.; Ghiselli, S.; Ambrosetti, U.; Graziano, C.; Seri, M.; Gasparini, P.; Girotto, G.
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?
2019-01-01 Bottega, R.; Napolitano, L. M. R.; Carbone, A.; Cappelli, E.; Corsolini, F.; Onesti, S.; Savoia, A.; Gasparini, P.; Faletra, F.
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency
2019-01-01 Valencic, E.; Piscianz, E.; Sirchia, F.; Tommasini, A.; Faletra, F.; Todaro, F.; Spinelli, A. M.; Badolato, R.
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report
2020-01-01 Faletra, F.; Morgan, A.; Ghiselli, S.; Murru, F. M.; Girotto, G.
A Child With Self-Improving Hypotonia: Look at the Skin!
2020-01-01 Conversano, Ester; Agrusti, Anna; Conti, Rosaura; Magnolato, Andrea; Bruno, Irene; Colombi, Marina; Barbi, Egidio; Faletra, Flavio
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet
2020-01-01 Tornese, Gianluca; Patti, Giuseppa; Pellegrin, MARIA CHIARA; Costa, Paola; Faletra, Flavio; Faleschini, Elena; Barbi, Egidio
An unusual diagnosis for an usual test
2020-01-01 Trombetta, Andrea; Migliarino, Vanessa; Faletra, Flavio; Barbi, Egidio; Tornese, Gianluca
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population?
2020-01-01 Fantasia, I.; Stampalija, T.; Sirchia, F.; Della Pieta, I.; Ottaviani Giammarco, C.; Guidolin, F.; Quadrifoglio, M.; Barresi, V.; Travan, L.; Faletra, F.
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population
2020-01-01 Morgan, A.; Lenarduzzi, S.; Spedicati, B.; Cattaruzzi, E.; Murru, F. M.; Pelliccione, G.; Mazza, D.; Zollino, M.; Graziano, C.; Ambrosetti, U.; Seri, M.; Faletra, F.; Girotto, G.
TBC1D24 and non-syndromic autosomal dominant hearing loss: the identification of an additional Italo-American family carrying the p.(S178L) mutation
2021-01-01 Spedicati, Beatrice; Morgan, Anna; Faletra, Flavio; Feresin, Agnese; Pelliccione, Giulia; Gasparini, Paolo; Girotto, Giorgia
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
2021-01-01 Pelletier, F.; Perrier, S.; Cayami, F. K.; Mirchi, A.; Saikali, S.; Tran, L. T.; Ulrick, N.; Guerrero, K.; Rampakakis, E.; van Spaendonk, R. M. L.; Naidu, S.; Pohl, D.; Gibson, W. T.; Demos, M.; Goizet, C.; Tejera-Martin, I.; Potic, A.; Fogel, B. L.; Brais, B.; Sylvain, M.; Sebire, G.; Lourenco, C. M.; Bonkowsky, J. L.; Catsman-Berrevoets, C.; Pinto, P. S.; Tirupathi, S.; Stromme, P.; de Grauw, T.; Gieruszczak-Bialek, D.; Krageloh-Mann, I.; Mierzewska, H.; Philippi, H.; Rankin, J.; Atik, T.; Banwell, B.; Benko, W. S.; Blaschek, A.; Bley, A.; Boltshauser, E.; Bratkovic, D.; Brozova, K.; Cimas, I.; Clough, C.; Corenblum, B.; Dinopoulos, A.; Dolan, G.; Faletra, F.; Fernandez, R.; Fletcher, J.; Garcia Garcia, M. E.; Gasparini, P.; Gburek-Augustat, J.; Gonzalez Moron, D.; Hamati, A.; Harting, I.; Hertzberg, C.; Hill, A.; Hobson, G. M.; Innes, A. M.; Kauffman, M.; Kirwin, S. M.; Kluger, G.; Kolditz, P.; Kotzaeridou, U.; La Piana, R.; Liston, E.; Mcclintock, W.; Mcentagart, M.; Mckenzie, F.; Melancon, S.; Misbahuddin, A.; Suri, M.; Monton, F. I.; Moutton, S.; Murphy, R. P. J.; Nickel, M.; Onay, H.; Orcesi, S.; Ozkinay, F.; Patzer, S.; Pedro, H.; Pekic, S.; Pineda Marfa, M.; Pizzino, A.; Plecko, B.; Poll-The, B. T.; Popovic, V.; Rating, D.; Rioux, M. -F.; Rodriguez Espinosa, N.; Ronan, A.; Ostergaard, J. R.; Rossignol, E.; Sanchez-Carpintero, R.; Schossig, A.; Senbil, N.; Sonderberg Roos, L. K.; Stevens, C. A.; Synofzik, M.; Sztriha, L.; Tibussek, D.; Timmann, D.; Tonduti, D.; van de Warrenburg, B. P.; Vazquez-Lopez, M.; Venkateswaran, S.; Wasling, P.; Wassmer, E.; Webster, R. I.; Wiegand, G.; Yoon, G.; Rotteveel, J.; Schiffmann, R.; van der Knaap, M. S.; Vanderver, A.; Martos-Moreno, G. A.; Polychronakos, C.; Wolf, N. I.; Bernard, G.
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies
2021-01-01 Valencic, Erica; Da Lozzo, Prisca; Tornese, Gianluca; Ghirigato, Elena; Facca, Francesco; Piscianz, Elisa; Faletra, Flavio; Taddio, Andrea; Tommasini, Alberto; Magnolato, Andrea
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease
2021-01-01 Morgan, A.; Dipresa, S.; Turolla, L.; La Bianca, M.; Faletra, F.; Girotto, G.
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003)
2021-01-01 Valencic, E.; Piscianz, E.; Sirchia, F.; Tommasini, A.; Faletra, F.; Todaro, F.; Spinelli, A. M.; Badolato, R.
When salt is needed to grow: Questions
2021-01-01 Conversano, Ester; Romano, Sara; Taddio, Andrea; Faletra, Flavio; Zanon, Davide; Barbi, Egidio; Pennesi, Marco
Could the MED13 mutations manifest as a Kabuki-like syndrome?
2021-01-01 De Nardi, L.; Faletra, F.; D'Adamo, A. P.; Bianco, A. M. R.; Athanasakis, E.; Bruno, I.; Barbi, E.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
2021-01-01 Bassani, Sissy; van Beelen, Edward; Rossel, Mireille; Voisin, Norine; Morgan, Anna; Arribat, Yoan; Chatron, Nicolas; Chrast, Jacqueline; Cocca, Massimiliano; Delprat, Benjamin; Faletra, Flavio; Giannuzzi, Giuliana; Guex, Nicolas; Machavoine, Roxane; Pradervand, Sylvain; Smits, Jeroen J; van de Kamp, Jiddeke M; Ziegler, Alban; Amati, Francesca; Marlin, Sandrine; Kremer, Hannie; Locher, Heiko; Maurice, Tangui; Gasparini, Paolo; Girotto, Giorgia; Reymond, Alexandre
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile