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Page 1
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
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.
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.
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.
Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.
Galati A, Muciaccia R, Marucci A, Di Paola R, Menzaghi C, Ortolani F, Rutigliano A, Rotondo A, Fischetto R, Piccinno E, Delvecchio M. Galati A, et al. Among authors: fischetto r. Int J Environ Res Public Health. 2022 Sep 3;19(17):11031. doi: 10.3390/ijerph191711031. Int J Environ Res Public Health. 2022. PMID: 36078750 Free PMC article.
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
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Di Fede E, et al. Among authors: fischetto r. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. Eur J Hum Genet. 2021. PMID: 32641752 Free PMC article.
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.
Bertelloni S, Balsamo A, Giordani L, Fischetto R, Russo G, Delvecchio M, Gennari M, Nicoletti A, Maggio MC, Concolino D, Cavallo L, Cicognani A, Chiumello G, Hiort O, Baroncelli GI, Faienza MF. Bertelloni S, et al. Among authors: fischetto r. J Endocrinol Invest. 2009 Sep;32(8):666-70. doi: 10.1007/BF03345738. Epub 2009 May 12. J Endocrinol Invest. 2009. PMID: 19498320
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.
65 results