ROMANO, CORRADO
ROMANO, CORRADO
SCIENZE BIOMEDICHE E BIOTECNOLOGICHE
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features
2007-01-01 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
2008-01-01 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
2022-01-01 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
2009-01-01 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
2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism
2006-01-01 Romano, C.
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients
file da validare2013-01-01 Città, Santina; Buono, Serafino; Greco, Donatella; Barone, Concetta; Alfei, Enrico; Bulgheroni, Sara; Usilla, Arianna; Pantaleoni, Chiara; Romano, Corrado
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism
2007-01-01 Romano, C.; Knight, S. J. L.; Martin, C. L.; de Vries, B. B. A.
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.
2013-01-01 {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
2006-01-01 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
2021-01-01 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 CASE OF FG SYNDROME WITH GINGIVAL HYPERPLASIA AND KELOIDS
file da validare1995-01-01 Elia, M.; DI LELLO, R.; Romano, C.; Schepis, C.
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype
2012-01-01 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
file da validare1988-01-01 Milone, G.; Conti, L.; Rizzo, Renata; Sanfilippo, S.; Sammito, V.; Romano, C.
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome
file da validare1995-01-01 Musumeci, S. A.; Elia, M.; Ferri, R.; Romano, C.; Scuderi, C.; Del Gracco, S.
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
2018-01-01 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
file da validare2007-01-01 Salemi, M; Romano, C; Ragusa, L; DI VITA, G; Salluzzo, R; Oteri, I; Trovato, Ml; Romano, C; Caraci, Filippo; Nicoletti, F; Bosco, P.
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
2006-01-01 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?
2002-01-01 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
2015-01-01 Salemi, M; Barone, C; Romano, C; Salluzzo, Mg; Giambirtone, M; Morale, Mc; Calogero, Aldo Eugenio; Grillo, L; Bosco, P; Romano, C.
A polymorphism (Rs1042522) in TP53 gene is a risk factor for down syndrome in sicilian mothers
file da validare2017-01-01 Salemi, M.; Barone, C.; Salluzzo, M. G.; Giambirtone, M.; Scillato, F.; Rando, R. G.; Romano, C.; Morale, M. C.; Ridolfo, F.; Romano, C.
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 | |
2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism | 1-gen-2006 | Romano, C. | |
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 |
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism | 1-gen-2007 | Romano, C.; Knight, S. J. L.; Martin, C. L.; de Vries, B. B. A. | |
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 CASE OF FG SYNDROME WITH GINGIVAL HYPERPLASIA AND KELOIDS | 1-gen-1995 | Elia, M.; DI LELLO, R.; Romano, C.; Schepis, C. | file da validare |
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 further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome | 1-gen-1995 | Musumeci, S. A.; Elia, M.; Ferri, R.; Romano, C.; Scuderi, C.; Del Gracco, S. | 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 polymorphism (Rs1042522) in TP53 gene is a risk factor for down syndrome in sicilian mothers | 1-gen-2017 | Salemi, M.; Barone, C.; Salluzzo, M. G.; Giambirtone, M.; Scillato, F.; Rando, R. G.; Romano, C.; Morale, M. C.; Ridolfo, F.; Romano, C. | file da validare |