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
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.
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.
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.
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.
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.
An unusual diagnosis for an usual test
2020-01-01 Trombetta, Andrea; Migliarino, Vanessa; Faletra, Flavio; Barbi, Egidio; Tornese, Gianluca
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.
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.
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
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.
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
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
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
2021-01-01 Sirchia, F.; Fantasia, I.; Feresin, A.; Giorgio, E.; Faletra, F.; Mordeglia, D.; Barbieri, M.; Guida, V.; De Luca, A.; Stampalija, T.
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.
Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes
2021-01-01 Fantasia, I.; Dibello, D.; Di Carlo, V.; Colin, G.; Barbieri, M.; Belcaro, C.; Magni, E.; Faletra, F.; Laura, T.; Stampalija, T.
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
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
2021-01-01 Spedicati, B.; Cocca, M.; Palmisano, R.; Faletra, F.; Barbieri, C.; Francescatto, M.; Mezzavilla, M.; Morgan, A.; Pelliccione, G.; Gasparini, P.; Girotto, G.
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