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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1989 1
1991 1
1993 1
1999 1
2008 1
2018 1
2019 1
2020 4
2021 2
2022 1
2023 2
2024 1

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Page 1
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Giovenino C, Trajkova S, Pavinato L, Cardaropoli S, Pullano V, Ferrero E, Sukarova-Angelovska E, Carestiato S, Salmin P, Rinninella A, Battaglia A, Bertoli L, Fadda A, Palermo F, Carli D, Mussa A, Dimartino P, Bruselles A, Froukh T, Mandrile G, Pasini B, De Rubeis S, Buxbaum JD, Pippucci T, Tartaglia M, Rossato M, Delledonne M, Ferrero GB, Brusco A. Giovenino C, et al. Among authors: dimartino p. Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6. Eur J Hum Genet. 2023. PMID: 36879111
Unilateral lumbar fusion.
Hambly MF, Wiltse LL, Peek RD, DiMartino PP, Darakjian HE. Hambly MF, et al. Among authors: dimartino pp. Spine (Phila Pa 1976). 1991 Jun;16(6 Suppl):S295-7. doi: 10.1097/00007632-199106001-00023. Spine (Phila Pa 1976). 1991. PMID: 1862428
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Pavinato L, et al. Among authors: dimartino p. J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323470 Free PMC article.
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.
Ferri L, Menghi V, Licchetta L, Dimartino P, Minardi R, Davì C, Di Vito L, Cifaldi E, Zenesini C, Gozzo F, Pelliccia V, Mariani V, de Spelorzi YCC, Gustincich S, Seri M, Tassi L, Pippucci T, Bisulli F. Ferri L, et al. Among authors: dimartino p. Epilepsy Behav. 2024 Apr;153:109716. doi: 10.1016/j.yebeh.2024.109716. Epub 2024 Mar 19. Epilepsy Behav. 2024. PMID: 38508103
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC, Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S, Buxbaum J, Ferrero GB, Keller R, Brusco A. Pavinato L, et al. Among authors: dimartino p. Am J Med Genet A. 2021 Jun;185(6):1712-1720. doi: 10.1002/ajmg.a.62157. Epub 2021 Mar 6. Am J Med Genet A. 2021. PMID: 33675273 Free article.
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A. Garelli E, et al. Among authors: dimartino p. Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20. Br J Haematol. 2019. PMID: 30460677 Free article. No abstract available.
15 results