Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Gabriele Bonetti"'
Autor:
Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenes
Externí odkaz:
https://doaj.org/article/1af6536faa4e4fd2b67af9635c62c787
Autor:
Gabriele Bonetti, William Cozza, Andrea Bernini, Jurgen Kaftalli, Chiara Mareso, Francesca Cristofoli, Maria Chiara Medori, Leonardo Colombo, Salvatore Martella, Giovanni Staurenghi, Anna Paola Salvetti, Benedetto Falsini, Giorgio Placidi, Marcella Attanasio, Grazia Pertile, Mario Bengala, Francesca Bosello, Antonio Petracca, Fabiana D’Esposito, Benedetta Toschi, Paolo Lanzetta, Federico Ricci, Francesco Viola, Giuseppe Marceddu, Matteo Bertelli
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16881 (2023)
Sequencing of the low-complexity ORF15 exon of RPGR, a gene correlated with retinitis pigmentosa and cone dystrophy, is difficult to achieve with NGS and Sanger sequencing. False results could lead to the inaccurate annotation of genetic variants in
Externí odkaz:
https://doaj.org/article/8eac08075aa14a4b977811dbf2dd789f
Autor:
Francesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese, Giulia Guerri, Benedetta Tanzi, Roberta Miotto, Gabriele Bonetti, Jan Miertus, Pietro Chiurazzi, Liborio Stuppia, Valentina Gatta, Stefano Cecchin, Matteo Bertelli, Giuseppe Marceddu
Publikováno v:
Genes, Vol 14, Iss 8, p 1600 (2023)
We have developed MAGI-ACMG, a classification algorithm that allows the classification of sequencing variants (single nucleotide or small indels) according to the recommendations of the American College of Medical Genetics (ACMG) and the Association
Externí odkaz:
https://doaj.org/article/568b0ca79ff24d1ba103bd7b478d48e4
Autor:
Gabriele Bonetti, Kristjana Dhuli, Maria Rachele Ceccarini, Jurgen Kaftalli, Michele Samaja, Vincenza Precone, Stefano Cecchin, Paolo Enrico Maltese, Giulia Guerri, Giuseppe Marceddu, Tommaso Beccari, Barbara Aquilanti, Valeria Velluti, Giuseppina Matera, Marco Perrone, Amerigo Iaconelli, Francesca Colombo, Francesco Greco, Marco Raffaelli, Mahmut Cerkez Ergoren, Matteo Bertelli
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 24, p 7531 (2022)
Obesity is a chronic disease in which abnormal deposition of fat threatens health, leading to diabetes, cardiovascular diseases, cancer, and other chronic illnesses. According to the WHO, 19.8% of the adult population in Italy is obese, and the preva
Externí odkaz:
https://doaj.org/article/b8586631d8234388a0f2a90e0807a15d
Autor:
Gabriele Bonetti, Stefano Paolacci, Michele Samaja, Paolo Enrico Maltese, Sandro Michelini, Serena Michelini, Silvia Michelini, Maurizio Ricci, Marina Cestari, Astrit Dautaj, Maria Chiara Medori, Matteo Bertelli
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 13, p 7414 (2022)
Lymphedema is a chronic inflammatory disorder caused by ineffective fluid uptake by the lymphatic system, with effects mainly on the lower limbs. Lymphedema is either primary, when caused by genetic mutations, or secondary, when it follows injury, in
Externí odkaz:
https://doaj.org/article/e3c3799324624860943d49bddbbb50de
Intestinal inflammation leads to various chronic diseases, collectively known as inflammatory bowel disease (IBD). IBD mainly affects the large intestine, but it can also affect the gastrointestinal tract as a whole. Its major symptoms are pain, diar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a286dee5cda64e4698d732db2e755c5e
Autor:
Gabriele, Bonetti, Karen L, Herbst, Kevin, Donato, Kristjana, Dhuli, Aysha Karim, Kiani, Barbara, Aquilanti, Valeria, Velluti, Giuseppina, Matera, Amerigo, Iaconelli, Matteo, Bertelli
Obesity and associated complications including diabetes, cardiometabolic dysfunction, disability, malignancy and premature mortality are considered epidemic. Research on obesity is therefore of worldwide importance. The development of obesity is a mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48df7dbf0d59ded92c8a0b6c1cb9cc67
Autor:
Zakira, Naureen, Gabriele, Bonetti, Maria Chiara, Medori, Barbara, Aquilanti, Valeria, Velluti, Giuseppina, Matera, Amerigo, Iaconelli, Matteo, Bertelli
The Mediterranean diet is a dietary regime derived from the one followed by the ancient civilizations of the Mediterranean region. It is characterized by many healthy constituents, among which are cereals, legumes, fruits, vegetables, olives, and whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66edbdce7d95d77d6356390ee73911ee
Autor:
Aysha Karim, Kiani, Derek, Pheby, Gary, Henehan, Richard, Brown, Paul, Sieving, Peter, Sykora, Robert, Marks, Benedetto, Falsini, Natale, Capodicasa, Stanislav, Miertus, Lorenzo, Lorusso, Daniele, Dondossola, Gianluca Martino, Tartaglia, Mahmut Cerkez, Ergoren, Munis, Dundar, Sandro, Michelini, Daniele, Malacarne, Gabriele, Bonetti, Astrit, Dautaj, Kevin, Donato, Maria Chiara, Medori, Tommaso, Beccari, Michele, Samaja, Stephen Thaddeus, Connelly, Donald, Martin, Assunta, Morresi, Ariola, Bacu, Karen L, Herbst, Mykhaylo, Kapustin, Liborio, Stuppia, Ludovica, Lumer, Giampietro, Farronato, Matteo, Bertelli
Publikováno v:
Journal of preventive medicine and hygiene, vol 63, iss 2 Suppl 3
Animal experimentation is widely used around the world for the identification of the root causes of various diseases in humans and animals and for exploring treatment options. Among the several animal species, rats, mice and purpose-bred birds compri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff078ee07e02c0671a21b4b082deaee3
https://escholarship.org/uc/item/840590rr
https://escholarship.org/uc/item/840590rr
Autor:
Kevin, Donato, Maria Rachele, Ceccarini, Kristjana, Dhuli, Gabriele, Bonetti, Maria Chiara, Medori, Giuseppe, Marceddu, Vincenza, Precone, Suela, Xhufi, Marsida, Bushati, Dhurata, Bozo, Tommaso, Beccari, Matteo, Bertelli
Eating disorders such as anorexia nervosa, bulimia nervosa and binge-eating disorder, have a deep social impact, concluding with death in cases of severe disease. Eating disorders affect up to 5% of the population in the industrialized countries, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02ddd8935953d3a42129fca7456af0b4
https://hdl.handle.net/11391/1539921
https://hdl.handle.net/11391/1539921