Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

65 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
Fischetto R, Palladino V, Mancardi MM, Giacomini T, Palladino S, Gaeta A, Di Rocco M, Zampini L, Lassandro G, Favia V, Tripaldi ME, Strisciuglio P, Romano A, Severino M, Morrone A, Giordano P. Fischetto R, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1371. doi: 10.1002/mgg3.1371. Epub 2020 Aug 11. Mol Genet Genomic Med. 2020. PMID: 32779865 Free PMC article.
Alagille Syndrome: A Novel Mutation in JAG1 Gene.
Fischetto R, Palmieri VV, Tripaldi ME, Gaeta A, Michelucci A, Delvecchio M, Francavilla R, Giordano P. Fischetto R, et al. Front Pediatr. 2019 May 15;7:199. doi: 10.3389/fped.2019.00199. eCollection 2019. Front Pediatr. 2019. PMID: 31157196 Free PMC article.
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Tonin R, Caciotti A, Procopio E, Fischetto R, Deodato F, Mancardi MM, Di Rocco M, Ardissone A, Salviati A, Marangi A, Strisciuglio P, Mangone G, Casini A, Ricci S, Fiumara A, Parini R, Pavone FS, Guerrini R, Calamai M, Morrone A. Tonin R, et al. Among authors: fischetto r. Sci Rep. 2019 Nov 27;9(1):17684. doi: 10.1038/s41598-019-53995-5. Sci Rep. 2019. PMID: 31776384 Free PMC article.
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.
Agazzi C, Magliozzi M, Iacoviello O, Palladino S, Delvecchio M, Masciopinto M, Galati A, Novelli A, Causio FA, Zampino G, Ruggiero C, Fischetto R. Agazzi C, et al. Among authors: fischetto r. Mol Syndromol. 2023 Apr;14(2):158-163. doi: 10.1159/000527424. Epub 2022 Dec 23. Mol Syndromol. 2023. PMID: 37064340 Free PMC article.
Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.
Palmieri VV, Lonero A, Bocchini S, Cassano G, Convertino A, Corica D, Crinò A, Fattorusso V, Ferraris S, Fintini D, Franzese A, Grugni G, Iughetti L, Lia R, Macchi F, Madeo SF, Matarazzo P, Nosetti L, Osimani S, Pajno R, Patti G, Pellegrin MC, Perri A, Ragusa L, Rutigliano I, Sacco M, Salvatoni A, Scarano E, Stagi S, Tornese G, Trifirò G, Wasniewska M, Fischetto R, Giordano P, Licenziati MR, Delvecchio M; Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology. Palmieri VV, et al. Among authors: fischetto r. Growth Horm IGF Res. 2019 Oct-Dec;48-49:9-15. doi: 10.1016/j.ghir.2019.08.003. Epub 2019 Aug 28. Growth Horm IGF Res. 2019. PMID: 31487604
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: fischetto r. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Among authors: fischetto r. Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046. Hum Mol Genet. 2019. PMID: 30806661
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I. Katzaki E, et al. Among authors: fischetto r. J Hum Genet. 2007;52(12):1011-1017. doi: 10.1007/s10038-007-0208-4. Epub 2007 Nov 8. J Hum Genet. 2007. PMID: 17990063
Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α.
Brunetti G, Papadia F, Tummolo A, Fischetto R, Nicastro F, Piacente L, Ventura A, Mori G, Oranger A, Gigante I, Colucci S, Ciccarelli M, Grano M, Cavallo L, Delvecchio M, Faienza MF. Brunetti G, et al. Among authors: fischetto r. Osteoporos Int. 2016 Jul;27(7):2355-2365. doi: 10.1007/s00198-016-3501-2. Epub 2016 Feb 8. Osteoporos Int. 2016. PMID: 26856585
65 results