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Page 1
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: rotundo g. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Inhibitory activity of some short-chain aliphatic aldehydes on pheromone and ammonium carbonate-mediated attraction in olive fruit fly, Bactrocera oleae.
Germinara GS, Pistillo OM, D'Isita I, Di Palma AM, Rotundo G, Guidotti M, Psaro R, Caselli A, Econdi S, Gargani E, Cutino I, Benvenuti C, Roversi PF. Germinara GS, et al. Among authors: rotundo g. Pest Manag Sci. 2024 Oct;80(10):5353-5363. doi: 10.1002/ps.8264. Epub 2024 Jun 28. Pest Manag Sci. 2024. PMID: 38940484
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
Casamassa A, Rotundo G, Ceresoni C, Turco EM, Torrente I, Candido O, Nicita F, Tonduti D, Bertini E, Marano M, Ferrari D, Cereda C, Pennuto M, Vescovi AL, Carelli S, Rosati J. Casamassa A, et al. Among authors: rotundo g. Stem Cell Res. 2024 Aug;78:103468. doi: 10.1016/j.scr.2024.103468. Epub 2024 Jun 6. Stem Cell Res. 2024. PMID: 38852424 Free article.
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Rotundo G, Turco EM, Ruotolo G, Torrente I, Candido O, Lopez G, Ferrari D, Caputi C, Mastrangelo M, Pisani F, Gelati M, Guarnieri V, Vescovi AL, Rosati J. Rotundo G, et al. Stem Cell Res. 2023 Mar;67:103023. doi: 10.1016/j.scr.2023.103023. Epub 2023 Jan 7. Stem Cell Res. 2023. PMID: 36638628 Free article.
Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.
Maria Turco E, Maria Giada Giovenale A, Rotundo G, Mazzoni M, Zanfardino P, Frezza K, Torrente I, Mary Carletti R, Damiani D, Santorelli FM, Luigi Vescovi A, Petruzzella V, Rosati J. Maria Turco E, et al. Among authors: rotundo g. Stem Cell Res. 2022 Dec;65:102946. doi: 10.1016/j.scr.2022.102946. Epub 2022 Oct 17. Stem Cell Res. 2022. PMID: 36272304 Free article.
39 results