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124 results

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Page 1
Modeling medulloblastoma in vivo and with human cerebellar organoids.
Ballabio C, Anderle M, Gianesello M, Lago C, Miele E, Cardano M, Aiello G, Piazza S, Caron D, Gianno F, Ciolfi A, Pedace L, Mastronuzzi A, Tartaglia M, Locatelli F, Ferretti E, Giangaspero F, Tiberi L. Ballabio C, et al. Among authors: ciolfi a. Nat Commun. 2020 Jan 29;11(1):583. doi: 10.1038/s41467-019-13989-3. Nat Commun. 2020. PMID: 31996670 Free PMC article.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: ciolfi a. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. PMID: 37398376 Free PMC article. Preprint.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.
Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC. Niceta M, et al. Among authors: ciolfi a. Eur J Med Genet. 2019 Jun;62(6):103534. doi: 10.1016/j.ejmg.2018.09.001. Epub 2018 Sep 3. Eur J Med Genet. 2019. PMID: 30189253 Free article. Review.
Expanding the clinical spectrum associated with PACS2 mutations.
Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, Digilio MC, Specchio N, Dallapiccola B, Tartaglia M. Dentici ML, et al. Among authors: ciolfi a. Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28. Clin Genet. 2019. PMID: 30684285 Review.
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Grassi L, Alfonsi R, Francescangeli F, Signore M, De Angelis ML, Addario A, Costantini M, Flex E, Ciolfi A, Pizzi S, Bruselles A, Pallocca M, Simone G, Haoui M, Falchi M, Milella M, Sentinelli S, Di Matteo P, Stellacci E, Gallucci M, Muto G, Tartaglia M, De Maria R, Bonci D. Grassi L, et al. Among authors: ciolfi a. Cell Death Dis. 2019 Feb 27;10(3):201. doi: 10.1038/s41419-019-1453-0. Cell Death Dis. 2019. PMID: 30814510 Free PMC article.
POGZ-related epilepsy: Case report and review of the literature.
Ferretti A, Barresi S, Trivisano M, Ciolfi A, Dentici ML, Radio FC, Vigevano F, Tartaglia M, Specchio N. Ferretti A, et al. Among authors: ciolfi a. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28. Am J Med Genet A. 2019. PMID: 31136090 Review.
124 results