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

Year Number of Results
2002 2
2006 1
2007 1
2008 2
2009 2
2011 2
2013 1
2017 2
2019 1
2020 1
2021 4
2023 1
2024 0

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18 results

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Page 1
Patient's dermal fibroblasts as disease markers for visceral myopathy.
Viti F, Pramotton FM, Martufi M, Magrassi R, Pedemonte N, Nizzari M, Zanacchi FC, De Michele B, Alampi M, Zambito M, Santamaria G, Bajetto A, Sardar S, Tomati V, Gandullia P, Giampietro C, Florio T, Beltrame F, Vassalli M, Ceccherini I. Viti F, et al. Among authors: santamaria g. Biomater Adv. 2023 May;148:213355. doi: 10.1016/j.bioadv.2023.213355. Epub 2023 Feb 23. Biomater Adv. 2023. PMID: 36893487 Free article.
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A, Miano M, Lanciotti M, Fioredda F, Guardo D, Palmisani E, Terranova P, Santamaria G, Caroli F, Caorsi R, Volpi S, Gattorno M, Dufour C, Ceccherini I. Grossi A, et al. Among authors: santamaria g. Genes (Basel). 2021 Aug 24;12(9):1299. doi: 10.3390/genes12091299. Genes (Basel). 2021. PMID: 34573280 Free PMC article.
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Papa R, Rusmini M, Schena F, Traggiai E, Coccia MC, Caorsi R, Arrigo S, Pasetti F, Signa S, Barone P, Santamaria G, Spirito G, Sanges R, Vozzi D, Cavalli A, Gustincich S, Ravelli A, Gattorno M, Ceccherini I, Volpi S. Papa R, et al. Among authors: santamaria g. Clin Immunol. 2021 Oct;231:108837. doi: 10.1016/j.clim.2021.108837. Epub 2021 Aug 26. Clin Immunol. 2021. PMID: 34455097
Mutations in DSTYK and dominant urinary tract malformations.
Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Among authors: santamaria g. N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17. N Engl J Med. 2013. PMID: 23862974 Free PMC article.
The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.
Bachetti T, Rosamilia F, Bartolucci M, Santamaria G, Mosconi M, Sartori S, De Filippo MR, Di Duca M, Obino V, Avanzini S, Mavilio D, Candiani S, Petretto A, Pini Prato A, Ceccherini I, Lantieri F. Bachetti T, et al. Among authors: santamaria g. Int J Mol Sci. 2021 Apr 7;22(8):3831. doi: 10.3390/ijms22083831. Int J Mol Sci. 2021. PMID: 33917126 Free PMC article.
NOLA1 gene mutations in acquired aplastic anemia.
Pigullo S, Pavesi E, Dianzani I, Santamaria G, Svahn J, Risso M, Van Lint MT, Pillon M, Iori AP, Longoni D, Ramenghi U, Lanciotti M, Dufour C. Pigullo S, et al. Among authors: santamaria g. Pediatr Blood Cancer. 2009 Mar;52(3):376-8. doi: 10.1002/pbc.21813. Pediatr Blood Cancer. 2009. PMID: 18989882
Hirschsprung associated GDNF mutations do not prevent RET activation.
Borghini S, Bocciardi R, Bonardi G, Matera I, Santamaria G, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: santamaria g. Eur J Hum Genet. 2002 Mar;10(3):183-7. doi: 10.1038/sj.ejhg.5200785. Eur J Hum Genet. 2002. PMID: 11973622
18 results