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206 results

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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: salviati l. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
ZFHX4 truncating variant and orofacial clefting.
Sorrentino U, Fedrigo M, Calò AP, Perin M, Veronese P, Salviati L. Sorrentino U, et al. Among authors: salviati l. Am J Med Genet A. 2024 Jan;194(1):115-116. doi: 10.1002/ajmg.a.63353. Epub 2023 Jul 11. Am J Med Genet A. 2024. PMID: 37434517 No abstract available.
C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals.
Franco-Romero A, Morbidoni V, Milan G, Sartori R, Wulff J, Romanello V, Armani A, Salviati L, Conte M, Salvioli S, Franceschi C, Buonomo V, Swoboda CO, Grumati P, Pannone L, Martinelli S, Jefferies HB, Dikic I, van der Laan J, Cabreiro F, Millay DP, Tooze SA, Trevisson E, Sandri M. Franco-Romero A, et al. Among authors: salviati l. J Clin Invest. 2024 Jun 13;134(15):e165814. doi: 10.1172/JCI165814. J Clin Invest. 2024. PMID: 38869949 Free PMC article.
TP53 DNA binding domain mutational status and rituximabbased treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification.
Martire G, Lovisa F, Carraro E, Rizzato D, Cesaro S, Mura RM, Tondo A, Bertolin C, Boaretto F, Salviati L, Biffi A, Pillon M, Mussolin L. Martire G, et al. Among authors: salviati l. Haematologica. 2024 Sep 1;109(9):3031-3036. doi: 10.3324/haematol.2023.284868. Haematologica. 2024. PMID: 38385281 Free PMC article. No abstract available.
Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.
Doni D, Cavion F, Bortolus M, Baschiera E, Muccioli S, Tombesi G, d'Ettorre F, Ottaviani D, Marchesan E, Leanza L, Greggio E, Ziviani E, Russo A, Bellin M, Sartori G, Carbonera D, Salviati L, Costantini P. Doni D, et al. Among authors: salviati l. Cell Death Dis. 2024 Jan 29;15(1):93. doi: 10.1038/s41419-024-06459-2. Cell Death Dis. 2024. PMID: 38287008 Free PMC article. No abstract available.
206 results