IRIS

FICHERA, Marco

FICHERA, Marco  

SCIENZE BIOMEDICHE E BIOTECNOLOGICHE  

Mostra records
Risultati 1 - 20 di 122 (tempo di esecuzione: 0.043 secondi).
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
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
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.
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 missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 1-gen-2006 Lo Giudice, M; Neri, M; Falco, M; Sturnio, M; Calzolari, E; Di Benedetto, D; Fichera, Marco
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 novel L1CAM mutation in a fetus detected by prenatal diagnosis 1-gen-2010 Piccione, Maria; Matina, Federico; Fichera, Marco; Lo Giudice, Mariangela; Damiani, Gianfranca; Jakil Maria, Cristina; Corsello, Giovanni
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 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 unusual presentation of Becker Nevus 1-gen-2010 Schepis, Carmelo; Lentini, Maria; Failla, Pinella; Castiglia, Lucia; Fichera, Marco; Romano, Corrado file da validare
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 1-gen-2005 Barresi, Vincenza; Ragusa, A.; Fichera, Marco; Castiglia, L.; Rappazzo, Giancarlo; Travali, S.; Mattina, T.; Romano, C.; Cocchi, G. e. Condorelli D. F. file da validare
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 1-gen-2003 Grillo, L.; Failla, P.; Ragusa, A.; Luciano, D.; Amata, S.; Galesi, O.; Fichera, Marco; Mattina, Teresa; Romano, C. file da validare
Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase 1-gen-2016 Fichera, Ga; Fichera, Marco; Milone, G.
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 1-gen-2016 Barone, RITA MARIA ELISA; Zavattieri, A; Fichera, Marco; Cocuzza, M; Perez, R; Sorrentino, V; Rizzo, Renata file da validare
Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure 1-gen-2012 Falsaperla, Raffaele; Pavone, Lorenzo; Fichera, Marco; Striano, Pasquale; Pavone, Piero
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 1-gen-2011 Talkowski Michael, E.; Mullegama Sureni, V.; Rosenfeld Jill, A.; van Bon, W. M.; Shen, Yiping; Repnikova Elena, A.; Gastier Foster, Julie; Thrush Devon, Lamb; Kathiresan, Sekar; Ruderfer Douglas, M.; Chiang, Colby; Hanscom, Carrie; Ernst, Carl; Lindgren Amelia, M.; Morton Cynthia, C.; An, Yu; Astbury, Caroline; Brueton Louise, A.; Lichtenbelt Klaske, D.; Ades Lesley, C.; Fichera, Marco; Romano, Corrado; Innis Jeffrey, W.; Williams Charles, A.; Bartholomew, Dennis; Van Allen Margot, I.; Parikh, Aditi; Zhang, Lilei; Wu Bai, Lin; Pyatt Robert, E.; Schwartz, Stuart; Shaffer Lisa, G.; de Vries Bert, B. A.; Gusella James, F.; Elsea Sarah, H.