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3. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Author

Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfons, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica, Scorrano, Giovanna, Di Bella, Saverio, Di Francesco, Ludovica, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Fiorillo, Chiara, Iacomino, Michele, Gaudio, Eugenio, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Iughetti, Lorenzo, Di Rosa, Gabriella, Maghnie, Mohamad, Pettoello-Mantovani, Massimo, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Bottone, Gabriella, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Miraglia-Del-Giudice, Michele, Maccarone, Rita, Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., Seri, Marco, Di-Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elisa, Maurizio, Cherubini, Enrico, Operto, Francesca F., Valenzise, Mariella, Cattaneo, Antonino, Zazzeroni, Francesca, Alesse, Edoardo, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Ahmed, Muhammad M., Parisi, Pasquale, Spalice, Alberto, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Bertoli-Avella, Aida, Pagnamenta, Alistair T., Niceta, Marcello, Battini, Roberta, Corsello, Antonio, Leoni, Chiara, Chiarelli, Francesco, Dallapiccola, Bruno, Faqeih, Eissa Ali, Tallur, Krishnaraya K., Alfadhel, Majid, Alobeid, Eman, Maddirevula, Sateesh, Mankad, Kshitij, Banka, Siddharth, Ghayoor-Karimiani, Ehsan, Tartaglia, Marco, Chung, Wendy K., Green, Rachel, Jepson, James E.C., and Houlden, Henry

Published
2024
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4. Monitoring of SARS-CoV-2 Infection in Ragusa Area: Next Generation Sequencing and Serological Analysis

Author

Denaro, Maria, primary, Ferro, Elisa, additional, Barrano, Giuseppe, additional, Meli, Salvatore, additional, Busacca, Mariangela, additional, Corallo, Damiano, additional, Capici, Alessia, additional, Zisa, Alessandra, additional, Cucuzza, Luana, additional, Gradante, Sandra, additional, Occhipinti, Marialuisa, additional, Santalucia, Paola, additional, Elia, Raffaele, additional, Aliquò, Angelo, additional, Tibullo, Daniele, additional, Fidone, Carmelo, additional, and Bramanti, Vincenzo, additional

Published
2023
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6. CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Author

Brancati, Francesco, Barrano, Giuseppe, Silhavy, Jennifer L., Marsh, Sarah E., Travaglini, Lorena, Bielas, Stephanie L., Amorini, Maria, Zablocka, Dominika, Kayserili, Hulya, Al-Gazali, Lihadh, Bertini, Enrico, Boltshauser, Eugen, D'Hooghe, Marc, Fazzi, Elisa, Fenerci, Elif Y., Hennekam, Raoul C.M., Kiss, Andrea, Lees, Melissa M., Marco, Elysa, Phadke, Shubha R., Rigoli, Luciana, Romano, Stephane, Salpietro, Carmelo D., Sherr, Elliott H., Signorini, Sabrina, Stromme, Petter, Stuart, Bernard, Sztriha, Laszlo, Viskochil, David H., Yuksel, Adnan, Dallapiccola, Bruno, Valente, Enza Maria, and Gleeson, Joseph G.

Published
2007
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9. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Author

Calì, Elisa, Lin, Sheng-Jia, Rocca, Clarissa, Sahin, Yavuz, Al Shamsi, Aisha, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Efthymiou, Stephanie, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, Murphy, David, De Carvalho Moreira, Francisco Martins, Hannah, Michael G., Bugiardini, Enrico, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Tucci, Arianna, Fiorillo, Chiara, Rissotto, Federico, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Romeo, Carmelo, Magrinelli, Francesca, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Farello, Giovanni, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Belcastro, Vincenzo, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Nanni, Giuliana, Scorrano, Giovanna, Fiorile, Maria F., Brancati, Francesco, Di Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elia, Maurizio, Terrone, Gaetano, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Zazzeroni, Francesca, Alesse, Edoardo, Manti, Filippo, Galosi, Serena, Nardecchia, Francesca, Leuzzi, Vincenzo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Javed, Iram, Rahman, Fatima, Ahmed, Muhammad Mehboob, Parisi, Pasquale, Borgia, Paola, Mangano, Giuseppe D., Chiarelli, Francesco, Genomics, Queen Square, Accogli, Andrea, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, Striano, Pasquale, Şahin, Yavuz, Al-Gazali, Lihadh, Abi Warde, Marie Therese, Gerard, Benedicte, Zifarelli, Giovanni, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Valente, Enza Maria, Varshney, Gaurav, Maroofian, Reza, Salpietro, Vincenzo, and Houlden, Henry

Abstract

The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11(c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.

Published
2022
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11. Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis

Author

Zampatti, Stefania, primary, Mela, Julia, additional, Peconi, Cristina, additional, Pagliaroli, Giulia, additional, Carboni, Stefania, additional, Barrano, Giuseppe, additional, Zito, Ilaria, additional, Cascella, Raffaella, additional, Marella, Gianluca, additional, Milano, Filippo, additional, Arcangeli, Mauro, additional, Caltagirone, Carlo, additional, Novelli, Antonio, additional, and Giardina, Emiliano, additional

Published
2018
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12. 335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features

Author

Alesi, Viola, primary, Bertoli, Marta, additional, Barrano, Giuseppe, additional, Torres, Barbara, additional, Pusceddu, Silvia, additional, Pastorino, Myriam, additional, Perria, Chiara, additional, Nardone, Anna Maria, additional, Novelli, Antonio, additional, and Serra, Gigliola, additional

Published
2012
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13. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Author

Valente, Enza Maria, primary, Silhavy, Jennifer L, additional, Brancati, Francesco, additional, Barrano, Giuseppe, additional, Krishnaswami, Suguna Rani, additional, Castori, Marco, additional, Lancaster, Madeline A, additional, Boltshauser, Eugen, additional, Boccone, Loredana, additional, Al-Gazali, Lihadh, additional, Fazzi, Elisa, additional, Signorini, Sabrina, additional, Louie, Carrie M, additional, Bellacchio, Emanuele, additional, Related Disorders Study Group, International Joubert Syndrome, additional, Bertini, Enrico, additional, Dallapiccola, Bruno, additional, and Gleeson, Joseph G, additional

Published
2006
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14. AHI1gene mutations cause specific forms of Joubert syndrome–related disorders

Author

Valente, Enza Maria, Brancati, Francesco, Silhavy, Jennifer L., Castori, Marco, Marsh, Sarah E., Barrano, Giuseppe, Bertini, Enrico, Boltshauser, Eugen, Zaki, Maha S., Abdel‐Aleem, Alice, Abdel‐Salam, Ghada M. H., Bellacchio, Emanuele, Battini, Roberta, Cruse, Robert P., Dobyns, William B., Krishnamoorthy, Kalpathy S., Lagier‐Tourenne, Clotilde, Magee, Alex, Pascual‐Castroviejo, Ignacio, Salpietro, Carmelo D., Sarco, Dean, Dallapiccola, Bruno, and Gleeson, Joseph G.

Published
2006
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15. 335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.

Author

Alesi V, Bertoli M, Barrano G, Torres B, Pusceddu S, Pastorino M, Perria C, Nardone AM, Novelli A, and Serra G

Subjects
Child, Preschool, Humans, Isoantigens genetics, Kruppel-Like Transcription Factors genetics, Male, Seminal Plasma Proteins genetics, Autistic Disorder genetics, Chromosome Duplication genetics, Chromosomes, Human, X genetics, Mental Retardation, X-Linked genetics, Sex Chromosome Aberrations
Abstract

About 10% of causative mutations for mental retardation in male patients involve X chromosome (X-linked mental retardation, XLMR). We describe a case of a 3-year-old boy presenting with developmental delay, autistic features and growth and speech delay. Array-CGH analysis detected a microduplication on the X chromosome (Xp11.2p11.3), spanning 335.4 kb and including 3 known genes (ZNF81, ZNF182 and SPACA5). Genome-wide association studies show that approximately 30% of mutations causing XLMR are located in Xp11.2p11.3, where few pathogenic genes have been identified to date (such as ZNF41, PQB1 and ZNF81). ZNF81 codifies a zinc finger protein and mutations (non-sense mutations, deletions and structural rearrangements) involving this gene have already been described in association with mental retardation. Larger duplications in the same region have also been observed in association with mental retardation, and, in one case, the over-expression of ZNF81 has also been verified by mRNA quantification. No duplications of the single gene have been identified. To our knowledge, the microduplication found in our patient is the smallest ever described in Xp11.2p11.3. This suggests that the over-expression of ZNF81 could have pathological effects., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Published
2012
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16. Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome.

Author

Dell'edera D, Epifania AA, Tinelli A, Leo M, Novelli A, Di Trani A, Barrano G, Bertoli M, Mazzone E, Benedetto M, Simona D, and Malvasi A

Subjects
Female, Humans, Hyperbilirubinemia genetics, Italy, Male, Mutagenesis, Insertional, Promoter Regions, Genetic, Gilbert Disease genetics, Glucosephosphate Dehydrogenase Deficiency genetics, Glucuronosyltransferase genetics
Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a recessive X-linked trait, is the most common enzyme deficiency in the world. The most devastating clinical consequence of this deficit is severe neonatal jaundice, which results in sensorineural deficit, and severe haemolytic anemia. However, patients may be asymptomatic. The most common clinical sign is hyperbilirubinemia (h↑), that is also related to Gilbert's syndrome, a condition associated with the promoter polymorphism of the UDP-glucuronosyltransferase 1 (UGT1A1) gene. The aim of this study was to underline (as is usually done by DNA molecular analysis) to detect and to clarify the genetic deficiency that is the reason of the disorder in question. In this study, different techniques were applied to analyse a family of four individuals presenting with hyperbilirubinemia: bilirubinic dosage, electrophoresis and enzymatic activity dosage of G6PD; molecular analysis of the UGT1A promoter to detect a thymine-adenine (TA) insertion, that causes the [A(TA)7TAA] mutation. The results showed that in certain cases, the presence of hyperbilirubinemia is not only associated with G6PD deficiency, but may be caused by the co-presence of a mutation in the UGTA1 promoter related to Gilbert's syndrome. As being affected by these two conditions predisposes to adverse effects towards certain drug treatments, it is advisable to study the UGTA1 gene before prescribing drugs for specific antineoplastic or retroviral treatment. We emphasize that investigating both the UGT1A gene and G6PD activity is the most reliable way to make a correct differential diagnosis.

Published
2012
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17. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Author

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, and Gleeson JG

Subjects
Adaptor Proteins, Signal Transducing metabolism, Adaptor Proteins, Vesicular Transport, Adolescent, Adult, Animals, Brain Diseases diagnosis, Brain Diseases physiopathology, Brain Stem pathology, Child, Child, Preschool, Chromosome Disorders genetics, Chromosome Disorders physiopathology, DNA Mutational Analysis methods, Developmental Disabilities physiopathology, Family Health, Female, Gene Frequency, Humans, Infant, Magnetic Resonance Imaging methods, Male, Models, Molecular, Polymorphism, Genetic, Adaptor Proteins, Signal Transducing genetics, Brain Diseases genetics, Developmental Disabilities genetics, Mutation
Abstract

Objective: Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown., Methods: We searched for mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign., Results: We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity., Interpretation: AHI1 mutations are a frequent cause of disease in patients with specific forms of JSRD.

Published
2006
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