Sfoglia per Autore
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
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations
2011-01-01 Abu-Amero, Khaled K.; Faletra, Flavio; Gasparini, Paolo; Parentin, Fulvio; Pensiero, Stefano; Alorainy, Ibrahim A.; Hellani, Ali M.; Catalano, Dario; Bosley, Thomas M.
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL
2011-01-01 Faletra, Flavio; Athanasakis, Emmanouil; Minen, Federico; Fornasier, Federico; Marchetti, Federico; Gasparini, Paolo
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature
2011-01-01 Faletra, Flavio; Devescovi, Raffaella; Pecile, Vanna; Fabretto, Antonella; Carrozzi, Marco; Gasparini, Paolo
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
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
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome
2012-01-01 Athanasakis, E.; Biarnés, X.; Bonati, M. T.; Gasparini, P.; Faletra, F.
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis
2012-01-01 Faletra, Flavio; Berti, I.; Tommasini, A.; Pecile, V.; Cleva, L.; Alberini, E.; Bruno, I.; Gasparini, P.
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature
2012-01-01 Perrone, M. D.; Rocca, M. S.; Bruno, I.; Faletra, F.; Pecile, V.; Gasparini, P.
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism
2013-01-01 Rocca, Maria Santa; Faletra, Flavio; Devescovi, Raffaella; Gasparini, Paolo; Pecile, Vanna
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
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
2015-01-01 Bianco, ANNA MONICA ROSARIA; Faletra, Flavio; Vozzi, Diego; Girardelli, Martina; Knowles, A; Tommasini, Alberto; Zauli, Giorgio; Marcuzzi, Annalisa
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
Developmental dyslexia and its complex genetic puzzle
2015-01-01 Athanasakis, Emmanouil; Faletra, Flavio; Licastro, Danilo; Gerbino, Walter; Lonciari, Isabella; Faletra, Francesca
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability
2015-01-01 Morgan, Anna; Gandin, Ilaria; Belcaro, Chiara; Palumbo, Pietro; Palumbo, Orazio; Biamino, Elisa; DAL COL, Valentina; Laurini, Erik; Pricl, Sabrina; Bosco, Paolo; Carella, Massimo; Ferrero, Giovanni Battista; Romano, Corrado; D'Adamo, ADAMO PIO; Faletra, Flavio; Vozzi, Diego
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
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
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature
2017-01-01 Travan, Laura; Naviglio, Samuele; DE CUNTO, Angela; Pellegrin, Andrea; Pecile, Vanna; Spinelli, Alessandro Mauro; Cappellani, Stefania; Faletra, Flavio
Type i interferon-mediated autoinflammation due to DNase II deficiency
2017-01-01 Rodero, Mathieu P.; Tesser, Alessandra; Bartok, Eva; Rice, Gillian I.; Della Mina, Erika; Depp, Marine; Beitz, Benoit; Bondet, Vincent; Cagnard, Nicolas; Duffy, Darragh; Dussiot, Michael; Frã©mond, Marie-Louise; Gattorno, Marco; Guillem, Flavia; Kitabayashi, Naoki; Porcheray, Fabrice; Rieux-Laucat, Frederic; Seabra, Luis; Uggenti, Carolina; Volpi, Stefano; Zeef, Leo A. H.; Alyanakian, Marie-Alexandra; Beltrand, Jacques; Bianco, Anna Monica; Boddaert, Nathalie; Brouzes, Chantal; Candon, Sophie; Caorsi, Roberta; Charbit, Marina; Fabre, Monique; Faletra, Flavio; Girard, Muriel; Harroche, Annie; Hartmann, Evelyn; Lasne, Dominique; Marcuzzi, Annalisa; Neven, Bã©nã©dicte; Nitschke, Patrick; Pascreau, Tiffany; Pastore, Serena; Picard, Capucine; Picco, Paolo; Piscianz, Elisa; Polak, Michel; Quartier, Pierre; Rabant, Marion; Stocco, Gabriele; Taddio, Andrea; Uettwiller, Florence; Valencic, Erica; Vozzi, Diego; Hartmann, Gunther; Barchet, Winfried; Hermine, Olivier; Bader-Meunier, Brigitte; Tommasini, Alberto; Crow, Yanick J.
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.
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