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GHEP-ISFG collaborative exercise on mixture profiles (GHEP-MIX06). Reporting conclusions: Results and evaluation.
Barrio PA, Crespillo M, Luque JA, Aler M, Baeza-Richer C, Baldassarri L, Carnevali E, Coufalova P, Flores I, García O, García MA, González R, Hernández A, Inglés V, Luque GM, Mosquera-Miguel A, Pedrosa S, Pontes ML, Porto MJ, Posada Y, Ramella MI, Ribeiro T, Riego E, Sala A, Saragoni VG, Serrano A, Vannelli S. Barrio PA, et al. Among authors: vannelli s. Forensic Sci Int Genet. 2018 Jul;35:156-163. doi: 10.1016/j.fsigen.2018.05.005. Epub 2018 May 18. Forensic Sci Int Genet. 2018. PMID: 29783171
Paternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative study.
Pinto N, Pereira V, Tomas C, Loiola S, Carvalho EF, Modesti N, Maxzud M, Marcucci V, Cano H, Cicarelli R, Januario B, Bento A, Brito P, Burgos G, Paz-Cruz E, Díez-Juárez L, Vannelli S, Pontes ML, Berardi G, Furfuro S, Fernandez A, Sumita D, Bobillo C, García MG, Gusmão L. Pinto N, et al. Among authors: vannelli s. Forensic Sci Int Genet. 2020 May;46:102258. doi: 10.1016/j.fsigen.2020.102258. Epub 2020 Feb 5. Forensic Sci Int Genet. 2020. PMID: 32066109
Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiency.
Bruzzi P, Vannelli S, Scarano E, Di Iorgi N, Parpagnoli M, Salerno M, Pitea M, Elisabeth Street M, Secco A, Andrea Trettene A, Wasniewska M, Corciulo N, Tornese G, Felicia Faienza M, Delvecchio M, Filomena Madeo S, Iughetti L. Bruzzi P, et al. Among authors: vannelli s. Endocr Connect. 2023 Jun 8;12(7):e220402. doi: 10.1530/EC-22-0402. Print 2023 Jul 1. Endocr Connect. 2023. PMID: 37014306 Free PMC article.
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.
Libraro A, D'Ascanio V, Cappa M, Chiarito M, Digilio MC, Einaudi S, Grandone A, Maghnie M, Mazzanti L, Mussa A, Patti G, Scarano E, Spinuzza A, Vannelli S, Wasniewska MG, Ferrero GB, Faienza MF. Libraro A, et al. Among authors: vannelli s. Front Endocrinol (Lausanne). 2021 Dec 22;12:761171. doi: 10.3389/fendo.2021.761171. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 35002956 Free PMC article.
Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Babu D, Vannelli S, Fanelli A, Mellone S, Baffico AM, Corrado L, Essa WA, Grandone A, Bellone S, Monzani A, Vinci G, De Sanctis L, Stuppia L, Prodam F, Giordano M. Babu D, et al. Among authors: vannelli s. Eur J Hum Genet. 2021 Jan;29(1):110-121. doi: 10.1038/s41431-020-0676-y. Epub 2020 Jul 9. Eur J Hum Genet. 2021. PMID: 32647378 Free PMC article.
37 results