Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy
2020-01-01 Schepis, Carmelo; Failla, Pinella; Siragusa, Maddalena; Vinci, Mirella; Calì, Francesco
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding
2010-01-01 Sbacchi, Silvia; Acquadro, Francesco; Calo, Ignazio; Cali, Francesco; Romano, Valentino
GENETIC RELATIONSHIPS OF BRASSICA VEGETABLES AND WILD RELATIVES IN SOUTHERN ITALY DETERMINED BY FIVE SSR
2013-01-01 Branca, F.; Ragusa, L.; Tribulato, A.; Di Gaetano, C.; Calì, F.
Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis
2018-01-01 Schepis, Carmelo; Failla, Pinella; Siragusa, Maddalena; Chiavetta, Valeria; Ruggeri, Giuseppa; Calì, Francesco
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation
2014-01-01 Marrale, Maurizio; Albanese, Nadia Ninfa; Calì, Francesco; Romano, Valentino
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities
2016-01-01 Fallea, Antonio; Zuccarello, Rosa; Calì, Francesco
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype
2021-01-01 Nicotera, Antonio Gennaro; Spoto, Giulia; Calì, Francesco; Romeo, Giusi; Musumeci, Antonino; Vinci, Mirella; Fiumara, Agata; Barone, Rita; Di Rosa, Gabriella; Musumeci, Sebastiano Antonino
Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes
2001-01-01 Giannattasio, Sergio; Dianzani, Irma; Lattanzio, Paolo; Spada, Marco; Romano, Valentino; Calì, Francesco; Andria, Generoso; Ponzone, Alberto; Marra, Ersilia; Piazza, Alberto
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study
2020-01-01 Lanza, Giuseppe; Calì, Francesco; Vinci, Mirella; Cosentino, Filomena Irene Ilaria; Tripodi, Mariangela; Spada, Rosario Sebastiano; Cantone, Mariagiovanna; Bella, Rita; Mattina, Teresa; Ferri, Raffaele
Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily
1994-01-01 Romano, V; Calì, F; Guldberg, P; Güttler, F; Indelicato, A; Bosco, P; Ceratto, N
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective
2006-01-01 Capelli, C.; Redhead, N.; Romano, V.; Calì, F.; Lefranc, G.; Delague, V.; Megarbane, A.; Felice, A. E.; Pascali, V. L.; Neophytou, P. I.; Poulli, Z.; Novelletto, A.; Malaspina, P.; Terrenato, L.; Berebbi, A.; Fellous, M.; Thomas, M. G.; Goldstein, D. B.
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; Calì, F; Schinocca, P; Galesi, O; Spalletta, A; Di Benedetto, D; Fichera, M
Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation
2005-01-01 Fichera, M; Falco, M; Lo Giudice, M; Castiglia, L; Guarnaccia, V; Calì, F; Spalletta, A; Scuderi, C; Avola, E
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma
2008-01-01 Salemi, Michele; Bosco, Paolo; Calì, Francesco; Calogero, Aldo E.; Soma, Pier Franco; Galia, Antonio; Lanzafame, Manuela; Romano, Carmelo; Vicari, Enzo; Grasso, Giuseppe; Siragò, Paolo; Rappazzo, Giancarlo
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria
2000-01-01 Puglisi-Allegra, Stefano; Cabib, Simona; Pascucci, Tiziana; Ventura, Rossella; Cali, Francesco; Romano, Valentino
Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa
2004-01-01 Cruciani, Fulvio; La Fratta, Roberta; Santolamazza, Piero; Sellitto, Daniele; Pascone, Roberto; Moral, Pedro; Watson, Elizabeth; Guida, Valentina; Colomb, Eliane Beraud; Zaharova, Boriana; Lavinha, João; Vona, Giuseppe; Aman, Rashid; Calì, Francesco; Akar, Nejat; Richards, Martin; Torroni, Antonio; Novelletto, Andrea; Scozzari, Rosaria
Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy)
2003-01-01 Romano, V.; Calì, F.; Ragalmuto, A.; D'Anna, R. P.; Flugy, A.; De Leo, G.; Giambalvo, O.; Lisa, A.; Fiorani, O.; Di Gaetano, C.; Salerno, A.; Tamouza, R.; Charron, D.; Zei, G.; Matullo, G.; Piazza, A.
MAN2A2-related glycosylation defects in autism and cognitive delay
2025-01-01 Treccarichi, Simone; Vinci, Mirella; Cirnigliaro, Lara; Messina, Angela; Palmigiano, Angelo; Pettinato, Fabio; Musumeci, Antonino; Chiavetta, Valeria; Saccone, Salvatore; Sturiale, Luisa; Calì, Francesco; Barone, Rita
Identification of human D lactate dehydrogenase deficiency
2019-01-01 Monroe, Glen R.; Van Eerde, Albertien M.; Tessadori, Federico; Duran, Karen J.; Savelberg, Sanne M. C.; Van Alfen, Johanna C.; Terhal, Paulien A.; Van Der Crabben, Saskia N.; Lichtenbelt, Klaske D.; Fuchs, Sabine A.; Gerrits, Johan; Van Roosmalen, Markus J.; Van Gassen, Koen L.; Van Aalderen, Mirjam; Koot, Bart G.; Oostendorp, Marlies; Duran, Marinus; Visser, Gepke; De Koning, Tom J.; Calì, Francesco; Bosco, Paolo; Geleijns, Karin; de Sain-van der Velden, Monique G. M.; Knoers, Nine V.; Bakkers, Jeroen; Verhoeven-Duif, Nanda M.; Van Haaften, Gijs; Jans, Judith J.
Ancient human genomes suggest three ancestral populations for present-day Europeans
2014-01-01 Lazaridis, Iosif; Patterson, Nick; Mittnik, Alissa; Renaud, Gabriel; Mallick, Swapan; Kirsanow, Karola; Sudmant, Peter H.; Schraiber, Joshua G.; Castellano, Sergi; Lipson, Mark; Berger, Bonnie; Economou, Christos; Bollongino, Ruth; Qiaomei, Fu; Bos, Kirsten I.; Nordenfelt, Susanne; Heng, Li; De Filippo, Cesare; Prüfer, Kay; Sawyer, Susanna; Posth, Cosimo; Haak, Wolfgang; Hallgren, Fredrik; Fornander, Elin; Rohland, Nadin; Delsate, Dominique; Francken, Michael; Guinet, Jean-Michel; Wahl, Joachim; Ayodo, George; Babiker, Hamza A.; Bailliet, Graciela; Balanovska, Elena; Balanovsky, Oleg; Barrantes, Ramiro; Bedoya, Gabriel; Ben-Ami, Haim; Bene, Judit; Berrada, Fouad; Bravi, Claudio M.; Brisighelli, Francesca; Busby, George B. J.; Cali, Francesco; Churnosov, Mikhail; Cole, David E. C.; Corach, Daniel; Damba, Larissa; Van Driem, George; Dryomov, Stanislav; Dugoujon, Jean-Michel; Fedorova, Sardana A.; Gallego Romero, Irene; Gubina, Marina; Hammer, Michael; Henn, Brenna M.; Hervig, Tor; Hodoglugil, Ugur; Jha, Aashish R.; Karachanak-Yankova, Sena; Khusainova, Rita; Khusnutdinova, Elza; Kittles, Rick; Kivisild, Toomas; Klitz, William; Kučinskas, Vaidutis; Kushniarevich, Alena; Laredj, Leila; Litvinov, Sergey; Loukidis, Theologos; Mahley, Robert W.; Melegh, Béla; Metspalu, Ene; Molina, Julio; Mountain, Joanna; Näkkäläjärvi, Klemetti; Nesheva, Desislava; Nyambo, Thomas; Osipova, Ludmila; Parik, Jüri; Platonov, Fedor; Posukh, Olga; Romano, Valentino; Rothhammer, Francisco; Rudan, Igor; Ruizbakiev, Ruslan; Sahakyan, Hovhannes; Sajantila, Antti; Salas, Antonio; Starikovskaya, Elena B.; Tarekegn, Ayele; Toncheva, Draga; Turdikulova, Shahlo; Uktveryte, Ingrida; Utevska, Olga; Vasquez, René; Villena, Mercedes; Voevoda, Mikhail; Winkler, Cheryl A.; Yepiskoposyan, Levon; Zalloua, Pierre; Zemunik, Tatijana; Cooper, Alan; Capelli, Cristian; Thomas, Mark G.; Ruiz-Linares, Andres; Tishkoff, Sarah A.; Singh, Lalji; Thangaraj, Kumarasamy; Villems, Richard; Comas, David; Sukernik, Rem; Metspalu, Mait; Meyer, Matthias; Eichler, Evan E.; Burger, Joachim; Slatkin, Montgomery; Pääbo, Svante; Kelso, Janet; Reich, David; Krause, Johannes
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy | 1-gen-2020 | Schepis, Carmelo; Failla, Pinella; Siragusa, Maddalena; Vinci, Mirella; Calì, Francesco | |
| Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding | 1-gen-2010 | Sbacchi, Silvia; Acquadro, Francesco; Calo, Ignazio; Cali, Francesco; Romano, Valentino | |
| GENETIC RELATIONSHIPS OF BRASSICA VEGETABLES AND WILD RELATIVES IN SOUTHERN ITALY DETERMINED BY FIVE SSR | 1-gen-2013 | Branca, F.; Ragusa, L.; Tribulato, A.; Di Gaetano, C.; Calì, F. | |
| Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis | 1-gen-2018 | Schepis, Carmelo; Failla, Pinella; Siragusa, Maddalena; Chiavetta, Valeria; Ruggeri, Giuseppa; Calì, Francesco | |
| Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation | 1-gen-2014 | Marrale, Maurizio; Albanese, Nadia Ninfa; Calì, Francesco; Romano, Valentino | |
| Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities | 1-gen-2016 | Fallea, Antonio; Zuccarello, Rosa; Calì, Francesco | |
| A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype | 1-gen-2021 | Nicotera, Antonio Gennaro; Spoto, Giulia; Calì, Francesco; Romeo, Giusi; Musumeci, Antonino; Vinci, Mirella; Fiumara, Agata; Barone, Rita; Di Rosa, Gabriella; Musumeci, Sebastiano Antonino | |
| Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes | 1-gen-2001 | Giannattasio, Sergio; Dianzani, Irma; Lattanzio, Paolo; Spada, Marco; Romano, Valentino; Calì, Francesco; Andria, Generoso; Ponzone, Alberto; Marra, Ersilia; Piazza, Alberto | |
| A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study | 1-gen-2020 | Lanza, Giuseppe; Calì, Francesco; Vinci, Mirella; Cosentino, Filomena Irene Ilaria; Tripodi, Mariangela; Spada, Rosario Sebastiano; Cantone, Mariagiovanna; Bella, Rita; Mattina, Teresa; Ferri, Raffaele | |
| Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily | 1-gen-1994 | Romano, V; Calì, F; Guldberg, P; Güttler, F; Indelicato, A; Bosco, P; Ceratto, N | |
| Population Structure in the Mediterranean Basin: A Y Chromosome Perspective | 1-gen-2006 | Capelli, C.; Redhead, N.; Romano, V.; Calì, F.; Lefranc, G.; Delague, V.; Megarbane, A.; Felice, A. E.; Pascali, V. L.; Neophytou, P. I.; Poulli, Z.; Novelletto, A.; Malaspina, P.; Terrenato, L.; Berebbi, A.; Fellous, M.; Thomas, M. G.; Goldstein, D. B. | |
| 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; Calì, F; Schinocca, P; Galesi, O; Spalletta, A; Di Benedetto, D; Fichera, M | |
| Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation | 1-gen-2005 | Fichera, M; Falco, M; Lo Giudice, M; Castiglia, L; Guarnaccia, V; Calì, F; Spalletta, A; Scuderi, C; Avola, E | |
| SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma | 1-gen-2008 | Salemi, Michele; Bosco, Paolo; Calì, Francesco; Calogero, Aldo E.; Soma, Pier Franco; Galia, Antonio; Lanzafame, Manuela; Romano, Carmelo; Vicari, Enzo; Grasso, Giuseppe; Siragò, Paolo; Rappazzo, Giancarlo | |
| Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria | 1-gen-2000 | Puglisi-Allegra, Stefano; Cabib, Simona; Pascucci, Tiziana; Ventura, Rossella; Cali, Francesco; Romano, Valentino | |
| Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa | 1-gen-2004 | Cruciani, Fulvio; La Fratta, Roberta; Santolamazza, Piero; Sellitto, Daniele; Pascone, Roberto; Moral, Pedro; Watson, Elizabeth; Guida, Valentina; Colomb, Eliane Beraud; Zaharova, Boriana; Lavinha, João; Vona, Giuseppe; Aman, Rashid; Calì, Francesco; Akar, Nejat; Richards, Martin; Torroni, Antonio; Novelletto, Andrea; Scozzari, Rosaria | |
| Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy) | 1-gen-2003 | Romano, V.; Calì, F.; Ragalmuto, A.; D'Anna, R. P.; Flugy, A.; De Leo, G.; Giambalvo, O.; Lisa, A.; Fiorani, O.; Di Gaetano, C.; Salerno, A.; Tamouza, R.; Charron, D.; Zei, G.; Matullo, G.; Piazza, A. | |
| MAN2A2-related glycosylation defects in autism and cognitive delay | 1-gen-2025 | Treccarichi, Simone; Vinci, Mirella; Cirnigliaro, Lara; Messina, Angela; Palmigiano, Angelo; Pettinato, Fabio; Musumeci, Antonino; Chiavetta, Valeria; Saccone, Salvatore; Sturiale, Luisa; Calì, Francesco; Barone, Rita | |
| Identification of human D lactate dehydrogenase deficiency | 1-gen-2019 | Monroe, Glen R.; Van Eerde, Albertien M.; Tessadori, Federico; Duran, Karen J.; Savelberg, Sanne M. C.; Van Alfen, Johanna C.; Terhal, Paulien A.; Van Der Crabben, Saskia N.; Lichtenbelt, Klaske D.; Fuchs, Sabine A.; Gerrits, Johan; Van Roosmalen, Markus J.; Van Gassen, Koen L.; Van Aalderen, Mirjam; Koot, Bart G.; Oostendorp, Marlies; Duran, Marinus; Visser, Gepke; De Koning, Tom J.; Calì, Francesco; Bosco, Paolo; Geleijns, Karin; de Sain-van der Velden, Monique G. M.; Knoers, Nine V.; Bakkers, Jeroen; Verhoeven-Duif, Nanda M.; Van Haaften, Gijs; Jans, Judith J. | |
| Ancient human genomes suggest three ancestral populations for present-day Europeans | 1-gen-2014 | Lazaridis, Iosif; Patterson, Nick; Mittnik, Alissa; Renaud, Gabriel; Mallick, Swapan; Kirsanow, Karola; Sudmant, Peter H.; Schraiber, Joshua G.; Castellano, Sergi; Lipson, Mark; Berger, Bonnie; Economou, Christos; Bollongino, Ruth; Qiaomei, Fu; Bos, Kirsten I.; Nordenfelt, Susanne; Heng, Li; De Filippo, Cesare; Prüfer, Kay; Sawyer, Susanna; Posth, Cosimo; Haak, Wolfgang; Hallgren, Fredrik; Fornander, Elin; Rohland, Nadin; Delsate, Dominique; Francken, Michael; Guinet, Jean-Michel; Wahl, Joachim; Ayodo, George; Babiker, Hamza A.; Bailliet, Graciela; Balanovska, Elena; Balanovsky, Oleg; Barrantes, Ramiro; Bedoya, Gabriel; Ben-Ami, Haim; Bene, Judit; Berrada, Fouad; Bravi, Claudio M.; Brisighelli, Francesca; Busby, George B. J.; Cali, Francesco; Churnosov, Mikhail; Cole, David E. C.; Corach, Daniel; Damba, Larissa; Van Driem, George; Dryomov, Stanislav; Dugoujon, Jean-Michel; Fedorova, Sardana A.; Gallego Romero, Irene; Gubina, Marina; Hammer, Michael; Henn, Brenna M.; Hervig, Tor; Hodoglugil, Ugur; Jha, Aashish R.; Karachanak-Yankova, Sena; Khusainova, Rita; Khusnutdinova, Elza; Kittles, Rick; Kivisild, Toomas; Klitz, William; Kučinskas, Vaidutis; Kushniarevich, Alena; Laredj, Leila; Litvinov, Sergey; Loukidis, Theologos; Mahley, Robert W.; Melegh, Béla; Metspalu, Ene; Molina, Julio; Mountain, Joanna; Näkkäläjärvi, Klemetti; Nesheva, Desislava; Nyambo, Thomas; Osipova, Ludmila; Parik, Jüri; Platonov, Fedor; Posukh, Olga; Romano, Valentino; Rothhammer, Francisco; Rudan, Igor; Ruizbakiev, Ruslan; Sahakyan, Hovhannes; Sajantila, Antti; Salas, Antonio; Starikovskaya, Elena B.; Tarekegn, Ayele; Toncheva, Draga; Turdikulova, Shahlo; Uktveryte, Ingrida; Utevska, Olga; Vasquez, René; Villena, Mercedes; Voevoda, Mikhail; Winkler, Cheryl A.; Yepiskoposyan, Levon; Zalloua, Pierre; Zemunik, Tatijana; Cooper, Alan; Capelli, Cristian; Thomas, Mark G.; Ruiz-Linares, Andres; Tishkoff, Sarah A.; Singh, Lalji; Thangaraj, Kumarasamy; Villems, Richard; Comas, David; Sukernik, Rem; Metspalu, Mait; Meyer, Matthias; Eichler, Evan E.; Burger, Joachim; Slatkin, Montgomery; Pääbo, Svante; Kelso, Janet; Reich, David; Krause, Johannes |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile
Scopri
Tipologia
- 1 Contributo su Rivista16165
- 4 Contributo in Atti di Convegno ...2
- 2 Contributo in Volume1
Data di pubblicazione
- In corso di stampa18
- 2020 - 20267666
- 2010 - 20195902
- 2000 - 20091997
- 1990 - 1999523
- 1980 - 198961
- 1979 - 19791
Editore
- Trans Tech Publications1
Rivista
- INTERNATIONAL JOURNAL OF MOLECULA...235
- JOURNAL OF CLINICAL MEDICINE168
- CANCERS132
- INTERNATIONAL JOURNAL OF ENVIRONM...119
- DIAGNOSTICS86
- LNS. ACTIVITY REPORT85
- SCIENTIFIC REPORTS79
- PHD KORE REVIEW78
- RIVISTA DELLA COOPERAZIONE GIURID...76
- NUTRIENTS74
Serie
- ADVANCED MATERIALS RESEARCH1
- WORKING PAPERS RES1
Keyword
- COVID-19275
- Humans267
- Female142
- Male132
- SARS-CoV-2116
- inflammation108
- oxidative stress86
- Italy85
- Adult73
- Middle Aged72
Lingua
- eng11427
- ita2604
- fre66
- spa66
- lat12
- ger11
- por6
- ara3
- cat3
- enm2
Accesso al fulltext
- no fulltext16168