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

Year Number of Results
2002 1
2004 1
2005 1
2007 2
2008 1
2009 1
2010 1
2011 4
2012 1
2013 6
2014 7
2015 5
2016 3
2017 6
2018 5
2019 3
2020 8
2021 8
2022 4
2023 6
2024 5

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74 results

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Page 1
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: percesepe a. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
Barili V, Ambrosini E, Bortesi B, Minari R, De Sensi E, Cannizzaro IR, Taiani A, Michiara M, Sikokis A, Boggiani D, Tommasi C, Serra O, Bonatti F, Adorni A, Luberto A, Caggiati P, Martorana D, Uliana V, Percesepe A, Musolino A, Pellegrino B. Barili V, et al. Among authors: percesepe a. Genes (Basel). 2024 Feb 8;15(2):219. doi: 10.3390/genes15020219. Genes (Basel). 2024. PMID: 38397209 Free PMC article. Review.
Genes and translocations involved in POF.
Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G, Forabosco A. Schlessinger D, et al. Among authors: percesepe a. Am J Med Genet. 2002 Aug 15;111(3):328-33. doi: 10.1002/ajmg.10565. Am J Med Genet. 2002. PMID: 12210333 Review.
Reverse phenotyping comes of age.
Uliana V, Percesepe A. Uliana V, et al. Among authors: percesepe a. Mol Genet Metab. 2016 Aug;118(4):230-1. doi: 10.1016/j.ymgme.2016.05.010. Epub 2016 May 14. Mol Genet Metab. 2016. PMID: 27211610 No abstract available.
A patient with mosaic USP9X gene variant.
Barili V, Dall'Asta A, Uliana V, Schera GBL, Ormitti F, Romanini E, Micalizzi A, Magliozzi M, Perrino D, Novelli A, Ghi T, Percesepe A. Barili V, et al. Among authors: percesepe a. Eur J Med Genet. 2022 Dec;65(12):104638. doi: 10.1016/j.ejmg.2022.104638. Epub 2022 Oct 8. Eur J Med Genet. 2022. PMID: 36216272
Liquid biopsy with cell free DNA: new horizons for prostate cancer.
Ponti G, Maccaferri M, Percesepe A, Tomasi A, Ozben T. Ponti G, et al. Among authors: percesepe a. Crit Rev Clin Lab Sci. 2021 Jan;58(1):60-76. doi: 10.1080/10408363.2020.1803789. Epub 2020 Aug 17. Crit Rev Clin Lab Sci. 2021. PMID: 32805148 Review.
FCGR3B polymorphism predicts relapse risk in eosinophilic granulomatosis with polyangiitis.
Alberici F, Bonatti F, Adorni A, Daminelli G, Sinico RA, Gregorini G, Marvisi C, Fenaroli P, Peyronel F, Maritati F, Palmisano A, Urban ML, Percesepe A, Emmi G, Martorana D, Vaglio A. Alberici F, et al. Among authors: percesepe a. Rheumatology (Oxford). 2020 Nov 1;59(11):3563-3566. doi: 10.1093/rheumatology/keaa134. Rheumatology (Oxford). 2020. PMID: 32375167 No abstract available.
74 results