IRIS

ROMANO, CORRADO

ROMANO, CORRADO  

SCIENZE BIOMEDICHE E BIOTECNOLOGICHE  

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Titolo Data di pubblicazione Autore(i) File
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 1-gen-2007 Alberti, A.; Romano, C.; Falco, M.; Cali, F.; Schinocca, P.; Galesi, O.; Spalletta, A.; Di Benedetto, D.; Fichera, Marco
12q12 deletion: A new patient contributing to genotype-phenotype correlation 1-gen-2008 Failla, Pinela; Romano, Corrado; Reitano, Santina; Di Benedetto, Daniela; Grillo, Lucia; Fichera, Marco; Castiglia, Lucia
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 1-gen-2022 Recalcati, Maria Paola; Catusi, Ilaria; Garzo, Maria; Redaelli, Serena; Massimello, Marta; Maitz, Silvia Beatrice; Gentile, Mattia; Ponzi, Emanuela; Orsini, Paola; Zilio, Anna; Montaldi, Annamaria; Calò, Annapaola; Capra, Anna Paola; Briuglia, Silvana; La Rosa, Maria Angela; Grillo, Lucia; Romano, Corrado; Bianca, Sebastiano; Malacarne, Michela; Busè, Martina; Piccione, Maria; Larizza, Lidia
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 1-gen-2009 Helbig, Ingo; Mefford Heather, C.; Sharp Andrew, J.; Guipponi, Michel; Fichera, Marco; Franke, Andre; Muhle, Hiltrud; de Kovel, Carolien; Baker, Carl; von Spiczak, Sarah; Kron Katherine, L.; Steinich, Ines; Kleefuss Lie Ailing, A.; Leu, Costin; Gaus, Verena; Schmitz, Bettina; Klein Karl, M.; Reif Philipp, S.; Rosenow, Felix; Weber, Yvonne; Lerche, Holger; Zimprich, Fritz; Urak, Lydia; Fuchs, Karoline; Feucht, Martha; Genton, Pierre; Thomas, Pierre; Visscher, Frank; de Haan Gerrit, Jan; Moller Rikke, S.; Hjalgrim, Helle; Luciano, Daniela; Wittig, Michael; Nothnagel, Michael; Elger Christian, E.; Nuernberg, Peter; Romano, Corrado; Malafosse, Alain; Koeleman Bobby, P. C.; Lindhout, Dick; Stephani, Ulrich; Schreiber, Stefan; Eichler Evan, E.; Sander, Thomas
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients 1-gen-2013 Città, Santina; Buono, Serafino; Greco, Donatella; Barone, Concetta; Alfei, Enrico; Bulgheroni, Sara; Usilla, Arianna; Pantaleoni, Chiara; Romano, Corrado file da validare
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 1-gen-2013 {Di Benedetto}, Daniela; {Di Vita}, Giuseppa; Romano, Corrado; Giudice Mariangela, Lo; Vitello Girolamo, Aurelio; Zingale, Marinella; Grillo, Lucia; Castiglia, Lucia; Musumeci Sebastiano, Antonino; Fichera, Marco
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 1-gen-2006 Elia, M; Striano, P; Fichera, Marco; Gaggero, R; Castiglia, L; Galesi, O; Malacarne, M; Pierluigi, M; Amato, C; Musumeci, Sa; Romano, C; Majore, S; Grammatico, P; Zara, F; Striano, S; Faravelli, F.
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 1-gen-2021 Catusi, I.; Garzo, M.; Capra, A. P.; Briuglia, S.; Baldo, C.; Canevini, M. P.; Cantone, Rachele; Elia, Flàviana; Forzano, F.; Galesi, O.; Grosso, E.; Malacarne, M.; Peron, A.; Romano, Corrado; Saccani, M.; Larizza, L.; Recalcati, M. P.
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 1-gen-2012 Concolino, D.; Iembo, M. A.; Moricca, M. T.; Rapsomaniki, M.; Marotta, R.; Galesi, O.; Fichera, Marco; Romano, C.; Strisciuglio, P.
A Dermatoglyphic study of a group of Sicilian children with Fra-X syndrome 1-gen-1988 Milone, G.; Conti, L.; Rizzo, Renata; Sanfilippo, S.; Sammito, V.; Romano, C. file da validare
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency 1-gen-2018 Jansen, S.; Hoischen, A.; Coe, B. P.; Carvill, G. L.; Van Esch, H.; Bosch, D. G. M.; Andersen, U. A.; Baker, C.; Bauters, M.; Bernier, R. A.; Van Bon, B. W.; Claahsen-Van Der Grinten, H. L.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M. J.; Marcelis, C.; Mckenzie, F.; Monin, M. -L.; Nava, C.; Schuurs-Hoeijmakers, J. H.; Pfundt, R.; Steehouwer, M.; Stevens, S. J. C.; Stumpel, C. T.; Vansenne, F.; Vinci, Mirella; Van De Vorst, M.; Vries, P. D.; Witherspoon, K.; Veltman, J. A.; Brunner, H. G.; Mefford, H. C.; Romano, Corrado; Vissers, L. E. L. M.; Eichler, E. E.; De Vries, B. B. A.
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation 1-gen-2007 Salemi, M; Romano, C; Ragusa, L; DI VITA, G; Salluzzo, R; Oteri, I; Trovato, Ml; Romano, C; Caraci, Filippo; Nicoletti, F; Bosco, P. file da validare
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 1-gen-2006 Koolen David, A.; Vissers Lisenka, E. L. M.; Pfundt, Rolph; de Leeuw, Nicole; Knight Samantha, J. L.; Regan, Regina; Kooy R., Frank; Reyniers, Edwin; Romano, Corrado; Fichera, Marco; Schinzel, Albert; Baumer, Alessandra; Anderlid Britt, Marie; Schoumans, Jacqueline; Knoers Nine, V.; van Kessel Ad, Geurts; Sistermans Erik, A.; Veltman Joris, A.; Brunner Han, G.; de Vries Bert, B. A.
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 1-gen-2002 Fichera, Marco; Borgione, E; Avola, E; Amata, S; Sturnio, M; Romano, C; Ragusa, A.
A peculiar VNTR in the cystathionine ß-synthase gene is a ricsk factor for Down Syndrome 1-gen-2015 Salemi, M; Barone, C; Romano, C; Salluzzo, Mg; Giambirtone, M; Morale, Mc; Calogero, Aldo Eugenio; Grillo, L; Bosco, P; Romano, C.
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 1-gen-2008 Sharp Andrew, J.; Mefford Heather, C.; Li, Kelly; Baker, Carl; Skinner, Cindy; Stevenson Roger, E.; Schroer Richard, J.; Novara, Francesca; De Gregori, Manuela; Ciccone, Roberto; Broomer, Adam; Casuga, Iris; Wang, Yu; Xiao, Chunlin; Barbacioru, Catalin; Gimelli, Giorgio; Bernardina Bernardo, Dalla; Torniero, Claudia; Giorda, Roberto; Regan, Regina; Murday, Victoria; Mansour, Sahar; Fichera, Marco; Castiglia, Lucia; Failla, Pinella; Ventura, Mario; Jiang, Zhaoshi; Cooper Gregory, M.; Knight Samantha, J. L.; Romano, Corrado; Zuffardi, Orsetta; Chen, Caifu; Schwartz Charles, E.; Eichler Evan, E.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 1-gen-2010 Girirajan, Santhosh; Rosenfeld Jill, A.; Cooper Gregory, M.; Antonacci, Francesca; Siswara, Priscillia; Itsara, Andy; Vives, Laura; Walsh, Tom; McCarthy Shane, E.; Baker, Carl; Mefford Heather, C.; Kidd Jeffrey, M.; Browning Sharon, R.; Browning Brian, L.; Dickel Diane, E.; Levy Deborah, L.; Ballif Blake, C.; Platky, Kathryn; Farber Darren, M.; Gowans Gordon, C.; Wetherbee Jessica, J.; Asamoah, Alexander; Weaver David, D.; Mark Paul, R.; Dickerson, Jennifer; Garg Bhuwan, P.; Ellingwood Sara, A.; Smith, Rosemarie; Banks Valerie, C.; Smith, Wendy; McDonald Marie, T.; Hoo Joe, J.; French Beatrice, N.; Hudson, Cindy; Johnson John, P.; Ozmore Jillian, R.; Moeschler John, B.; Surti, Urvashi; Escobar Luis, F.; El Khechen, Dima; Gorski Jerome, L.; Kussmann, Jennifer; Salbert, Bonnie; Lacassie, Yves; Biser, Alisha; McDonald McGinn Donna, M.; Zackai Elaine, H.; Deardorff Matthew, A.; Shaikh Tamim, H.; Haan, Eric; Friend Kathryn, L.; Fichera, Marco; Romano, Corrado; Gecz, Jozef; DeLisi Lynn, E.; Sebat, Jonathan; King Mary, Claire; Shaffer Lisa, G.; Eichler Evan, E.
A study of gene expression by RNA-seq in patients with prostate cancer and in patients with Parkinson disease: an example of inverse comorbidity 1-gen-2021 Pepe, Pietro; Vatrano, Simona; Cannarella, Rossella; Calogero, Aldo E.; Marchese, Giovanna; Ravo, Maria; Fraggetta, Filippo; Pepe, Ludovica; Pennisi, Michele; Romano, Corrado; Ferri, Raffaele; Salemi, Michele
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 1-gen-2014 Helsmoortel, C; Vulto van Silfhout, At; Coe, Bp; Vandeweyer, G; Rooms, L; van den Ende, J; Schuurs Hoeijmakers, Jh; Marcelis, Cl; Willemsen, Mh; Vissers, Le; Yntema, Hg; Bakshi, M; Wilson, M; Witherspoon, Kt; Malmgren, H; Nordgren, A; Annerén, G; Fichera, Marco; Bosco, P; Romano, C; de Vries, Bb; Kleefstra, T; Kooy, Rf; Eichler, Ee; Van der Aa, N.
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: relation to cognitive decline and longitudinal evaluation 1-gen-2016 Iulita, M. F.; Ower, A.; Pentz, R.; Gubert, P.; Barone, C.; Romano, C.; Cantarella, R. A.; Elia, F.; Buono, S.; Recupero, M.; Romano, C.; Castellano, S.; Bosco, P.; DI NUOVO, Santo; Drago, Filippo; Caraci, Filippo; Cuello, A. C.