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

Year Number of Results
2007 2
2008 3
2009 2
2010 3
2011 1
2012 3
2013 2
2014 2
2015 2
2016 1
2017 1
2019 2
2020 2
2021 3
2022 4
2023 4
2024 2

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34 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: uliana v. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers.
Tommasi C, Pellegrino B, Boggiani D, Sikokis A, Michiara M, Uliana V, Bortesi B, Bonatti F, Mozzoni P, Pinelli S, Squadrilli A, Viani MV, Cassi D, Maglietta G, Meleti M, Musolino A. Tommasi C, et al. Among authors: uliana v. Front Oncol. 2021 Sep 6;11:700853. doi: 10.3389/fonc.2021.700853. eCollection 2021. Front Oncol. 2021. PMID: 34552867 Free PMC article. Review.
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: uliana v. 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
Reverse phenotyping comes of age.
Uliana V, Percesepe A. Uliana V, et al. 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.
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: uliana v. Genes (Basel). 2024 Feb 8;15(2):219. doi: 10.3390/genes15020219. Genes (Basel). 2024. PMID: 38397209 Free PMC article. Review.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Carli D, Operti M, Russo S, Cocchi G, Milani D, Leoni C, Prada E, Melis D, Falco M, Spina J, Uliana V, Sara O, Sirchia F, Tarani L, Macchiaiolo M, Cerrato F, Sparago A, Pignata L, Tannorella P, Cardaropoli S, Bartuli A, Riccio A, Ferrero GB, Mussa A. Carli D, et al. Among authors: uliana v. Clin Genet. 2022 Oct;102(4):314-323. doi: 10.1111/cge.14193. Epub 2022 Jul 21. Clin Genet. 2022. PMID: 35842840 Free PMC article.
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M, Martorana D, Uliana V, Caleffi E, Boschi E, Garavelli L, Ponti G, Sangiorgi L, Graziano C, Bigoni S, Rocchetti LM, Madeo S, Soli F, Grosso E, Carli D, Goldoni M, Pisani F, Percesepe A. Riva M, et al. Among authors: uliana v. Genes Chromosomes Cancer. 2022 Jan;61(1):10-21. doi: 10.1002/gcc.22997. Epub 2021 Sep 3. Genes Chromosomes Cancer. 2022. PMID: 34427956 Free PMC article.
34 results