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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R, Bettinaglio P, Borghi A, Mangano E, Tritto V, Cesaretti C, Schettino C, Bordoni R, Santoro C, Avignone S, Moscatelli M, Melone MAB, Saletti V, Piluso G, Natacci F, Riva P, Eoli M. Paterra R, et al. Among authors: piluso g. Cancers (Basel). 2022 Dec 22;15(1):59. doi: 10.3390/cancers15010059. Cancers (Basel). 2022. PMID: 36612057 Free PMC article.
The fourth component of the sarcoglycan complex.
Yoshida M, Noguchi S, Wakabayashi E, Piluso G, Belsito A, Nigro V, Ozawa E. Yoshida M, et al. Among authors: piluso g. FEBS Lett. 1997 Feb 17;403(2):143-8. doi: 10.1016/s0014-5793(97)00040-9. FEBS Lett. 1997. PMID: 9042955 Free article.
Identification of the Syrian hamster cardiomyopathy gene.
Nigro V, Okazaki Y, Belsito A, Piluso G, Matsuda Y, Politano L, Nigro G, Ventura C, Abbondanza C, Molinari AM, Acampora D, Nishimura M, Hayashizaki Y, Puca GA. Nigro V, et al. Among authors: piluso g. Hum Mol Genet. 1997 Apr;6(4):601-7. doi: 10.1093/hmg/6.4.601. Hum Mol Genet. 1997. PMID: 9097966
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
109 results