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

Year Number of Results
1973 2
1975 2
1976 1
1977 1
1983 2
1984 1
1990 1
2002 3
2003 5
2004 6
2005 2
2006 4
2007 4
2008 3
2009 5
2010 7
2011 7
2012 7
2013 5
2014 2
2015 10
2016 2
2017 7
2018 15
2019 20
2020 26
2021 25
2022 13
2023 16
2024 4

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182 results

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Page 1
Mucinous breast cancer: A narrative review of the literature and a retrospective tertiary single-centre analysis.
Marrazzo E, Frusone F, Milana F, Sagona A, Gatzemeier W, Barbieri E, Bottini A, Canavese G, Rubino AO, Eboli MG, Rossetti CM, Testori A, Errico V, De Luca A, Tinterri C. Marrazzo E, et al. Among authors: de luca a. Breast. 2020 Feb;49:87-92. doi: 10.1016/j.breast.2019.11.002. Epub 2019 Nov 11. Breast. 2020. PMID: 31783314 Free PMC article. Review.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Among authors: de luca a. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.
Oncoplastic central quadrantectomies.
Pasta V, D'Orazi V, Merola R, Frusone F, Amabile MI, De Luca A, Buè R, Monti M. Pasta V, et al. Among authors: de luca a. Gland Surg. 2016 Aug;5(4):422-6. doi: 10.21037/gs.2016.04.01. Gland Surg. 2016. PMID: 27563564 Free PMC article. Review.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M. Motta M, et al. Among authors: de luca a. Am J Hum Genet. 2021 Nov 4;108(11):2112-2129. doi: 10.1016/j.ajhg.2021.09.007. Epub 2021 Oct 8. Am J Hum Genet. 2021. PMID: 34626534 Free PMC article.
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: de luca a. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.
DNA Methylation in the Diagnosis of Monogenic Diseases.
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: de luca a. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Iturrate A, Rivera-Barahona A, Flores CL, Otaify GA, Elhossini R, Perez-Sanz ML, Nevado J, Tenorio-Castano J, Triviño JC, Garcia-Gonzalo FR, Piceci-Sparascio F, De Luca A, Martínez L, Kalaycı T, Lapunzina P, Altunoglu U, Aglan M, Abdalla E, Ruiz-Perez VL. Iturrate A, et al. Among authors: de luca a. Am J Hum Genet. 2022 Oct 6;109(10):1828-1849. doi: 10.1016/j.ajhg.2022.08.009. Epub 2022 Sep 8. Am J Hum Genet. 2022. PMID: 36084634 Free PMC article.
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.
Calcagni G, Pugnaloni F, Digilio MC, Unolt M, Putotto C, Niceta M, Baban A, Piceci Sparascio F, Drago F, De Luca A, Tartaglia M, Marino B, Versacci P. Calcagni G, et al. Among authors: de luca a. Genes (Basel). 2021 Jul 8;12(7):1047. doi: 10.3390/genes12071047. Genes (Basel). 2021. PMID: 34356063 Free PMC article. Review.
Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier.
Marano M, Motolese F, Consoli F, De Luca A, Di Lazzaro V. Marano M, et al. Among authors: de luca a. Tremor Other Hyperkinet Mov (N Y). 2018 Dec 3;8:616. doi: 10.7916/D8S488X0. eCollection 2018. Tremor Other Hyperkinet Mov (N Y). 2018. PMID: 30622840 Free PMC article. Review.
182 results