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职业迁徙
个人简介
He started his research activity in the field of Genetic and Biochemistry in 1980. His primary focus was the mapping, identification and characterization of human-disease genes (Laron dwarfism, cystic fibrosis, DiGeorge syndrome, Mandibuloacral dysplasia, Friedrich ataxia vitamin-Edeficiency, spinal muscular atrophy, hypoplastic glomerulocystic kidney disease, myotonic dystrophy, psoriasis, galactosemia, hereditary nonspherocytic haemolytic anemia, atherosclerosis and myocardial infarction, vacuolar neuromyopathy, patella aplasia hypoplasia). The Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study (J. Med. Genet. : 34 Issue: 10 Pages: 798-804, 1997) provided the scientific evidence showing that patients with 22q11 deletion provide a large spectrum of symptoms and phenotypes. This landmark study (cited more 398 times) provided the first of the complexity of the phenotype associated to this syndrome and suggest the involvement of different genes mapping in the 22q11 region.
In the same year, Giuseppe Novelli started in searching for genes mapping in the region and isolate and characterized a novel one, UFD1L, a developmentally expressed ubiquitination gene, which is deleted in 22q11 syndrome (Hum Mol Genet., 6, 259-265, 1997). After the isolation, Novelli studied the structure, the expression, the conservation during evolution and its role in the syndrome. For these studies (in total 24 peer-reviewed articles), Novelli wrote two editorials (Trends Genet. 1999 Jul;15(7):251-4 and Mol. Med.
Today, 2000 Jan;6(1):10-1). The results obtained during this period, have allowed his participation to a EU consortium (chaired by P. Scambler) and facilitated collaboration with basic researchers and geneticists, trying to find the pathophysiological pathways and molecular mechanisms underlying some of the observations that Novelli had made in his first studies.
研究兴趣
论文共 989 篇作者统计合作学者相似作者
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Andrea Latini,Giada De Benedittis,Paola Conigliaro, Chiara Bonini, Chiara Morgante, Maria Iacovantuono,Arianna D'Antonio,Alberto Bergamini,Giuseppe Novelli,Maria Sole Chimenti,Cinzia Ciccacci,Paola Borgiani
GENESno. 2 (2024): 234
Top Italian Scientists Journalno. 1 (2024)
COVIDno. 1 (2024): 85-86
Ludovico Graziani, Miriam Lucia Carriero, Flavio Pozzi, Chiara Minotti,Aikaterini Andreadi,Alfonso Bellia,Rosario Ruta,Mario Bengala,Antonio Novelli,Davide Lauro,Giuseppe Novelli
Molecular Syndromologypp.1-8, (2024)
VIRUSES-BASELno. 7 (2023)
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Genome medicineno. 1 (2023): 22-22
Enrica Marchionni,Ruggiero Mango,Valentina Ferradini,Francesca Di Lorenzo, Giovanni Parlapiano,Giuseppe Novelli,Federica Sangiuolo
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 417-417
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