RENIERI, ALESSANDRA

RENIERI, ALESSANDRA  

Dipartimento di Biotecnologie Mediche  

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Titolo Data di pubblicazione Autore(i) File Abstract
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins 1-gen-2012 De Francesco, S.; Galluzzi, P.; Del Longo, A.; Piozzi, E.; Renieri, Alessandra; Menicacci, C.; Mari, Francesca; Munier, F.; Hadjistilianou, Theodora; Mastrangelo, D. -
13q deletion syndrome involving rb1: Characterization of a new minimal critical region for psychomotor delay 1-gen-2021 Privitera, F.; Calonaci, A.; Doddato, G.; Papa, F. T.; Baldassarri, M.; Pinto, A. M.; Mari, F.; Longo, I.; Caini, M.; Galimberti, D.; Hadjistilianou, T.; De Francesco, S.; Renieri, A.; Ariani, F. -
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. 1-gen-2009 Mencarelli, Ma; Kleefstra, T; Katzaki, E; Papa, Ft; Cohen, M; Pfundt, R; Ariani, Francesca; Meloni, Ilaria; Mari, Francesca; Renieri, Alessandra; Papa, FILOMENA TIZIANA -
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy 1-gen-2014 Reinthaler, Eva M.; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S.; Dahl, Hans Henrik M.; Regan, Brigid M.; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M.; Roche, Laurian; Gruber Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J.; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R.; Winterer, Georg; Consortium, The 1. 6. p. 1. 1. 2 European Consortium; Lerche, Holger; Nürnberg, Peter; Mefford, Heather; Scheffer, Ingrid E.; Berkovic, Samuel F.; Beckmann, Jacques S.; Renieri, Alessandra; Mucciolo, Mafalda; Mencarelli, MARIA ANTONIETTA; Epicure, Consortium; Euroepinomics, Consortium; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer Bernd, A. -
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization 1-gen-2020 Romano, C.; Ferranti, S.; Mencarelli, M. A.; Longo, I.; Renieri, A.; Grosso, S. -
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 1-gen-2007 Caselli, R; Mencarelli, Ma; Papa, Ft; Uliana, V; Schiavone, S; Strambi, M; Pescucci, C; Ariani, Francesca; Rossi, V; Longo, I; Meloni, I; Renieri, Alessandra; Mari, F.; Papa, FILOMENA TIZIANA -
2q24-q31 deletion: report of a case and review of the literature 1-gen-2007 Pescucci, C.; Caselli, R.; Grosso, S.; Mencarelli, M. A.; Mari, F.; Farnetani, M. A.; Piccini, B.; Artuso, R.; Bruttini, M.; Priolo, M.; Zuffardi, O.; Gimelli, S.; Balestri, P.; Renieri, A. -
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 1-gen-2008 Papa, F. T.; Mencarelli, M. A.; Caselli, R.; Katzaki, E.; Sampieri, K.; Meloni, I.; Ariani, F.; Longo, I.; Maggio, A.; Balestri, P.; Grosso, S.; Farnetani, M. A.; Berardi, R.; Mari, F.; Renieri, A. -
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 1-gen-2010 Uliana, V.; Grosso, S.; Cioni, M.; Ariani, F.; Pap, A. F. T.; Tamburello, S.; Rossi, E.; Katzaki, E.; Mucciolo, M.; Marozza, A.; Pollazzon, M.; Mencarelli, M. A.; Mari, F.; Balestri, P.; Renieri, A. -
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders 1-gen-2012 Zufferey, F; Sherr, E. H; Beckmann, N. D; Hanson, E; Maillard, A. M; Hippolyte, L; Macé, A; Ferrari, C; Kutalik, Z; Andrieux, J; Aylward, E; Barker, M; Bernier, R; Bouquillon, S; Conus, P; Delobel, B; Faucett, W. A; Goin-Kochel, R. P; Grant, E; Harewood, L; Hunter, J. V; Lebon, S; Ledbetter, D. H; Martin, C. L; Männik, K; Martinet, D; Mukherjee, P; Ramocki, M. B; Spence, S. J; Steinman, K. J; Tjernage, J; Spiro, J. E; Reymond, A; Beckmann, J. S; Chung, W. K; Jacquemont, S; Addor, M. C; Arveiler, B; Belfiore, M; Bena, F; Bernardini, L; Blanchet, P; Bonneau, D; Boute, O; Callier, P; Campion, D; Chiesa, J; Cordier, M. P; Cuisset, J. M; David, A; De Leeuw, N; De Vries, B; Didelot, G; Doco-Fenzy, M; Bedu, B. D; Dubourg, C; Dupuis-Girod, S; Fagerberg, C. R; Faivre, L; Fellmann, F; Fernandez, B. A; Fisher, R; Flori, E; Goldenberg, A; Heron, D; Holder, M; Hoyer, J; Isidor, B; Jaillard, S; Jonveaux, P; Joriot, S; Journel, H; Kooy, F; le Caignec, C; Leheup, B; Lemaitre, M. -P; Lewis, S; Malan, V; Mathieu-Dramard, M; Metspalu, A; Morice-Picard, F; Mucciolo, M; Oiglane-Shlik, E; Ounap, K; Pasquier, L; Petit, F; Philippe, A; Plessis, G; Prieur, F; Puechberty, J; Rajcan-Separovic, E; Rauch, A; Renieri, A; Rieubland, C; Rooryck, C; Rötzer, K. M; Ruiter, M; Sanlaville, D; Selmoni, S; Shen, Y; Siffredi, V; Thonney, J; Vallée, L; Van Binsbergen, E; Van der Aa, N; Van Haelst, M. M; Vigneron, J; Vincent-Delorme, C; Vittoria, D; Vulto-Van Silfhout, A. T; Witwicki, R. M; Zwolinski, S. A; Bowe, A; Beaudet, A. L; Brewton, C. M; Chu, Z; Dempsey, A. G; Evans, Y. L; Garza, S; Kanne, S. M; Laakman, A. L; Lasala, M. W; Llorens, A. V; Marzano, G; Moss, T. J; Nowell, K. P; Proud, M. B; Chen, Q; Vaughan, R; Berman, J; Blaskey, L; Hines, K; Kessler, S; Khan, S. Y; Qasmieh, S; Bibb, A. L; Paal, A. M; Page, P. Z; Smith-Packard, B; Buckner, R; Burko, J; Cavanagh, A. L; Cerban, B; Snow, A. V; Snyder, L. G; Keehn, R. M; Miller, D. T; Miller, F. K; Olson, J. E; Triantafallou, C; Visyak, N; Atwell, C; Benedetti, M; Fischbach, G. D; Greenup, M; Packer, A; Bukshpun, P; Cheong, M; Dale, C; Gobuty, S. E; Hinkley, L; Jeremy, R. J; Lee, H; Luks, T. L; Marco, E. J; Martin, A. J; Mcgovern, K. E; Nagarajan, S. S; Owen, J; Paul, B. M; Pojman, N. J; Sinha, T; Swarnakar, V; Wakahiro, M; Alupay, H; Aaronson, B; Ackerman, S; Ankenman, K; Elgin, J; Gerdts, J; Johnson, K; Reilly, B; Shaw, D; Stevens, A; Ward, T; Wenegrat, J; Roberts, T. P. L. -
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 1-gen-2009 Pollazzon, M.; Grosso, S.; Papa, F. T.; Katzaki, E.; Marozza, A.; Mencarelli, M. A.; Uliana, V.; Balestri, P.; Mari, F.; Renieri, A. -
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 1-gen-2014 Mucciolo, Mafalda; Magini, P.; Marozza, Annabella; Mongelli, P.; Mencarelli, MARIA ANTONIETTA; Hayek, G.; Tavalazzi, F.; Mari, Francesca; Seri, M.; Renieri, Alessandra; Graziano, C. -
A Bg/II polymorphism in the COL4A6 gene. 1-gen-1994 Renieri, Alessandra; Galli, L.; Zhou, J.; Ballabio, A.; DE MARCHI, M. -
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5. 1-gen-1994 Peissel, B.; Rossetti, S.; Renieri, Alessandra; Galli, L.; DE MARCHI, M.; Battini, G.; Meroni, M.; Sessa, A.; Schiavano, S.; Pignatti, P. F. -
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 1-gen-1995 Turco, Ae; Rossetti, S; Biasi, Mo; Rizzoni, G; Massella, L; Saarinen, Nh; Renieri, Alessandra; Pignatti, Pf; DE MARCHI, M. -
AAV-mediated FOXG1 gene editing in human Rett primary cells 1-gen-2020 Croci, S.; Carriero, M. L.; Capitani, K.; Daga, S.; Donati, F.; Papa, F. T.; Frullanti, E.; Lopergolo, D.; Lamacchia, V.; Tita, R.; Giliberti, A.; Benetti, E.; Niccheri, F.; Furini, S.; Lo Rizzo, C.; Conticello, S. G.; Renieri, A.; Meloni, I. -
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 1-gen-2020 Benetti, E.; Tita, R.; Spiga, O.; Ciolfi, A.; Birolo, G.; Bruselles, A.; Doddato, G.; Giliberti, A.; Marconi, C.; Musacchia, F.; Pippucci, T.; Torella, A.; Trezza, A.; Valentino, F.; Baldassarri, M.; Brusco, A.; Asselta, R.; Bruttini, M.; Furini, S.; Seri, M.; Nigro, V.; Matullo, G.; Tartaglia, M.; Mari, F.; Frullanti, E.; Fallerini, C.; Daga, S.; Croci, S.; Amitrano, S.; Fava, F.; Montagnani, F.; Di Sarno, L.; Tommasi, A.; Palmieri, M.; Emiliozzi, A.; Fabbiani, M.; Rossetti, B.; Zanelli, G.; Bergantini, L.; D’Alessandro, M.; Cameli, P.; Bennet, D.; Anedda, F.; Marcantonio, S.; Scolletta, S.; Franchi, F.; Mazzei, M. A.; Conticini, E.; Cantarini, L.; Frediani, B.; Tacconi, D.; Feri, M.; Scala, R.; Spargi, G.; Corridi, M.; Nencioni, C.; Caldarelli, G. P.; Spagnesi, M.; Piacentini, P.; Bandini, M.; Desanctis, E.; Canaccini, A.; Spertilli, C.; Donati, A.; Guidelli, L.; Croci, L.; Verzuri, A.; Anemoli, V.; Ognibene, A.; Vaghi, M.; D’Arminio Monforte, A.; Merlini, E.; Mondelli, M. U.; Mantovani, S.; Ludovisi, S.; Girardis, M.; Venturelli, S.; Sita, M.; Cossarizza, A.; Antinori, A.; Vergori, A.; Rusconi, S.; Siano, M.; Gabrieli, A.; Riva, A.; Francisci, D.; Schiaroli, E.; Scotton, P. G.; Andretta, F.; Panese, S.; Scaggiante, R.; Parisi, S. G.; Castelli, F.; Quiros-Roldan, M. E.; Magro, P.; Minardi, C.; Castelli, D.; Polesini, I.; Della Monica, M.; Piscopo, C.; Capasso, M.; Russo, R.; Andolfo, I.; Iolascon, A.; Carella, M.; Castori, M.; Merla, G.; Aucella, F.; Raggi, P.; Marciano, C.; Perna, R.; Bassetti, M.; Di Biagio, A.; Sanguinetti, M.; Masucci, L.; Gabbi, C.; Valente, S.; Guerrini, S.; Meloni, I.; Mencarelli, M. A.; Rizzo, C. L.; Bargagli, E.; Mandalà, M.; Giorli, A.; Salerni, L.; Fiorentino, G.; Zucchi, P.; Parravicini, P.; Menatti, E.; Baratti, S.; Trotta, T.; Giannattasio, F.; Coiro, G.; Lena, F.; Coviello, D. A.; Mussini, C.; Renieri, A.; Pinto, A. M.; GEN-COVID Multicenter, Study -
Adult-onset primary glaucoma and molecular genetics: A rewiev 1-gen-2004 R., Frezzotti; Renieri, Alessandra; Frezzotti, Paolo -
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 1-gen-2017 Gross, Oliver; Kashtan, Clifford E; Rheault, Michelle N; Flinter, Frances; Savige, Judith; Miner, Jeffrey H; Torra, Roser; Ars, Elisabet; Deltas, Constantinos; Savva, Isavella; Perin, Laura; Renieri, Alessandra; Ariani, Francesca; Mari, Francesca; Baigent, Colin; Judge, Parminder; Knebelman, Bertrand; Heidet, Laurence; Lagas, Sharon; Blatt, Dave; Ding, Jie; Zhang, Yanqin; Gale, Daniel P; Prunotto, Marco; Xue, Yong; Schachter, Asher D; Morton, Lori C. G; Blem, Jacqui; Huang, Michael; Liu, Shiguang; Vallee, Sebastien; Renault, Daniel; Schifter, Julia; Skelding, Jules; Gear, Susie; Friede, Tim; Turner, A. Neil; Lennon, Rachel -
Advances in Alport syndrome diagnosis using next-generation sequencing. 1-gen-2012 Artuso, R; Fallerini, C; Dosa, L; Scionti, F; Clementi, M; Garosi, G; Massella, L; Epistolato, Mc; Mancini, R; Mari, Francesca; Longo, I; Ariani, Francesca; Renieri, Alessandra; Bruttini, Mirella -