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Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A. Alesi V, et al. Among authors: di tommaso s. Hum Genomics. 2024 Mar 22;18(1):29. doi: 10.1186/s40246-024-00600-0. Hum Genomics. 2024. PMID: 38520002 Free PMC article.
iPS-cell-derived microglia promote brain organoid maturation via cholesterol transfer.
Park DS, Kozaki T, Tiwari SK, Moreira M, Khalilnezhad A, Torta F, Olivié N, Thiam CH, Liani O, Silvin A, Phoo WW, Gao L, Triebl A, Tham WK, Gonçalves L, Kong WT, Raman S, Zhang XM, Dunsmore G, Dutertre CA, Lee S, Ong JM, Balachander A, Khalilnezhad S, Lum J, Duan K, Lim ZM, Tan L, Low I, Utami KH, Yeo XY, Di Tommaso S, Dupuy JW, Varga B, Karadottir RT, Madathummal MC, Bonne I, Malleret B, Binte ZY, Wei Da N, Tan Y, Wong WJ, Zhang J, Chen J, Sobota RM, Howland SW, Ng LG, Saltel F, Castel D, Grill J, Minard V, Albani S, Chan JKY, Thion MS, Jung SY, Wenk MR, Pouladi MA, Pasqualini C, Angeli V, Cexus ONF, Ginhoux F. Park DS, et al. Among authors: di tommaso s. Nature. 2023 Nov;623(7986):397-405. doi: 10.1038/s41586-023-06713-1. Epub 2023 Nov 1. Nature. 2023. PMID: 37914940
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Orlando V, Di Tommaso S, Alesi V, Loddo S, Genovese S, Catino G, Martucci L, Roberti MC, Trivisano M, Dentici ML, Specchio N, Dallapiccola B, Ferretti A, Novelli A. Orlando V, et al. Among authors: di tommaso s. Int J Mol Sci. 2022 Oct 26;23(21):12900. doi: 10.3390/ijms232112900. Int J Mol Sci. 2022. PMID: 36361691 Free PMC article.
WARS1, TYMP and GBP1 display a distinctive microcirculation pattern by immunohistochemistry during antibody-mediated rejection in kidney transplantation.
Chauveau B, Garric A, Di Tommaso S, Raymond AA, Visentin J, Vermorel A, Dugot-Senant N, Déchanet-Merville J, Duong Van Huyen JP, Rabant M, Couzi L, Saltel F, Merville P. Chauveau B, et al. Among authors: di tommaso s. Sci Rep. 2022 Nov 9;12(1):19094. doi: 10.1038/s41598-022-23078-z. Sci Rep. 2022. PMID: 36352007 Free PMC article.
84 results