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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 1
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13 results
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Page 1
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 article.
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.
The Wiltse pedicle screw fixation system. Early clinical results.
Horowitch A, Peek RD, Thomas JC Jr, Widell EH Jr, DiMartino PP, Spencer CW 3rd, Weinstein J, Wiltse LL. Horowitch A, et al. Among authors: dimartino pp. Spine (Phila Pa 1976). 1989 Apr;14(4):461-7. doi: 10.1097/00007632-198904000-00025. Spine (Phila Pa 1976). 1989. PMID: 2718052
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.
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 Mar 6. doi: 10.1038/s41431-023-01324-w. Online ahead of print. Eur J Hum Genet. 2023. PMID: 36879111
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.
Bertulli C, Marzollo A, Doria M, Di Cesare S, La Scola C, Mencarelli F, Pasini A, Affinita MC, Vidal E, Magini P, Dimartino P, Masetti R, Greco L, Palomba P, Conti F, Pession A. Bertulli C, et al. Among authors: dimartino p. Int J Mol Sci. 2020 Nov 15;21(22):8604. doi: 10.3390/ijms21228604. Int J Mol Sci. 2020. PMID: 33203071 Free PMC article. Clinical Trial.
13 results