FALETRA, FLAVIO
FALETRA, FLAVIO
Universita' degli Studi di Trieste
Collaboratori
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
2015-01-01 Lougaris, Vassilios; Faletra, Flavio; Lanzi, Gaetana; Vozzi, Diego; Marcuzzi, Annalisa; Valencic, Erica; Piscianz, Elisa; Bianco, ANNA MONICA ROSARIA; Girardelli, Martina; Baronio, Manuela; Loganes, Claudia; Fasth, Anders; Salvini, Filippo; Trizzino, Antonino; Moratto, Daniele; Facchetti, Fabio; Giliani, Silvia; Plebani, Alessandro; Tommasini, Alberto
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation
2010-01-01 Fabretto, Antonella; Shardlow, Alison; Faletra, Flavio; Lepore, Loredana; Hladnik, Uros; Gasparini, Paolo
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome
2016-01-01 Quadrifoglio, Mariachiara; Faletra, Flavio; Bussani, Rossana; Pecile, Vanna; Zennaro, Floriana; Grasso, Alessandra; Zandonà, Lorenzo; Alberico, Salvatore; Stampalija, Tamara
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
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma
2018-01-01 Verzegnassi, F.; Valencic, E.; Kiren, V.; Giurici, N.; Bianco, A. M.; Marcuzzi, A.; Vozzi, D.; Tommasini, A.; Faletra, F.
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
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
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12
2012-01-01 Rocca, Maria Santa; Fabretto, Antonella; Faletra, Flavio; Carlet, Ombretta; Skabar, Aldo; Gasparini, Paolo; Pecile, Vanna
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.
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.
Developmental dyslexia and its complex genetic puzzle
2015-01-01 Athanasakis, Emmanouil; Faletra, Flavio; Licastro, Danilo; Gerbino, Walter; Lonciari, Isabella; Faletra, Francesca
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.
Evidence of Inbreeding Depression on Human Height
2012-01-01 Greg, Gibson; Ruth, Mcquillan; Niina, Eklund; Pirastu, Nicola; Maris, Kuningas; Brian P., Mcevoy; Tõnu, Esko; Tanguy, Corre; Gail, Davies; Marika, Kaakinen; Leo Pekka, Lyytikäinen; Kati, Kristiansson; Aki S., Havulinna; Martin, Gögele; Veronique, Vitart; Albert, Tenesa; Yurii, Aulchenko; Caroline, Hayward; Åsa, Johansson; Mladen, Boban; Sheila, Ulivi; Robino, Antonietta; Vesna, Boraska; Wilmar, Igl; Sarah H., Wild; Lina, Zgaga; Najaf, Amin; Evropi, Theodoratou; Ozren, Polašek; Girotto, Giorgia; Lorna M., Lopez; Cinzia, Sala; Jari, Lahti; Tiina, Laatikainen; Inga, Prokopenko; Mart, Kals; Jorma, Viikari; Jian, Yang; Anneli, Pouta; Karol, Estrada; Albert, Hofman; Nelson, Freimer; Nicholas G., Martin; Mika, Kähönen; Lili, Milani; Markku, Heliövaara; Erkki, Vartiainen; Katri, Räikkönen; Corrado, Masciullo; John M., Starr; Andrew A., Hicks; Laura, Esposito; Ivana, Kolčić; Susan M., Farrington; Ben, Oostra; Tatijana, Zemunik; Harry, Campbell; Mirna, Kirin; Marina, Pehlic; Faletra, Flavio; David, Porteous; Giorgio, Pistis; Elisabeth, Widén; Veikko, Salomaa; Seppo, Koskinen; Krista, Fischer; Terho, Lehtimäki; Andrew, Heath; Mark I., Mccarthy; Fernando, Rivadeneira; Grant W., Montgomery; Henning, Tiemeier; Anna Liisa, Hartikainen; Pamela A. F., Madden; D'Adamo, ADAMO PIO; Nicholas D., Hastie; Ulf, Gyllensten; Alan F., Wright; Cornelia M., van Duijn; Malcolm, Dunlop; Igor, Rudan; Gasparini, Paolo; Peter P., Pramstaller; Ian J., Deary; Daniela, Toniolo; Johan G., Eriksson; Antti, Jula; Olli T., Raitakari; Andres, Metspalu; Markus, Perola; Marjo Riitta, Järvelin; André, Uitterlinden; Peter M., Visscher; James F., Wilson
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.
2014-01-01 Gandin, Ilaria; Faletra, Flavio; Faletra, F; Carella, M; Pecile, Vanna; Ferrero, Gb; Biamino, E; Palumbo, P; Palumbo, O; Bosco, P; Romano, C; Belcaro, Chiara; Vozzi, Diego; D'Adamo, ADAMO PIO
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.
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.
Genetic analysis of Italian patients with congenital tufting enteropathy
2016-01-01 D’Apolito, Maria; Pisanelli, Daniela; Faletra, Flavio; Giardino, Ida; Gigante, Maddalena; Pettoello Mantovani, Massimo; Goulet, Olivier; Gasparini, Paolo; Campanozzi, Angelo
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
2022-01-01 Musante, Luciana; Costa, Paola; Zanus, Caterina; Faletra, Flavio; Murru, Flora M.; Bianco, Anna M.; La Bianca, Martina; Ragusa, Giulia; Athanasakis, Emmanouil; D’Adamo, Adamo P.; Carrozzi, Marco; Gasparini, Paolo
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
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
2022-01-01 Bottega, R.; Marzollo, A.; Marinoni, M.; Athanasakis, E.; Persico, I.; Bianco, A. M.; Faleschini, M.; Valencic, E.; Simoncini, D.; Rossini, L.; Corsolini, F.; La Bianca, M.; Robustelli, G.; Gabelli, M.; Agosti, M.; Biffi, A.; Grotto, P.; Bozzi, V.; Noris, P.; Burlina, A. B.; D'Adamo, A. P.; Tommasini, A.; Faletra, F.; Pastore, A.; Savoia, A.