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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 4

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73 results

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Page 1
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
Vitetta G, Desiderio L, Baccolini I, Uliana V, Lanzoni G, Ghi T, Pilu G, Ambrosini E, Caggiati P, Barili V, Trotta AC, Liuti MR, Malpezzi E, Pittalis MC, Percesepe A. Vitetta G, et al. Among authors: percesepe a. Mol Cytogenet. 2024 Apr 8;17(1):8. doi: 10.1186/s13039-024-00675-3. Mol Cytogenet. 2024. PMID: 38589928 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.
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Tonelli L, Balla C, Farnè M, Margutti A, Maniscalchi ET, De Feo G, Di Domenico A, De Raffele M, Percesepe A, Uliana V, Barili V, Serra W, Sassone B, Virzì S, De Maria E, Parmeggiani G, Assenza GE, Biagini E, Parisi V, Biffi M, Carinci V, Perugini E, Imbrici P, Ferlini A, Bertini M, Selvatici R, Gualandi F. Tonelli L, et al. Among authors: percesepe a. J Cardiovasc Med (Hagerstown). 2023 Dec 1;24(12):864-870. doi: 10.2459/JCM.0000000000001560. Epub 2023 Oct 30. J Cardiovasc Med (Hagerstown). 2023. PMID: 37942788
The "cortical invagination sign": a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum.
Ramirez Zegarra R, Casati D, Volpe N, Lanna M, Dall'Asta A, Chiarelli A, Ormitti F, Percesepe A, Montaguti E, Labadini C, Salsi G, di Pasquo E, Bonasoni MP, Quarello E, Pilu G, Grisolia G, Righini A, Ghi T. Ramirez Zegarra R, et al. Among authors: percesepe a. Am J Obstet Gynecol MFM. 2023 Dec;5(12):101198. doi: 10.1016/j.ajogmf.2023.101198. Epub 2023 Oct 20. Am J Obstet Gynecol MFM. 2023. PMID: 37866717 Free article.
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.
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.
Petraroli M, Percesepe A, Piane M, Ormitti F, Castellone E, Gnocchi M, Messina G, Bernardi L, Patianna VD, Esposito SMR, Street ME. Petraroli M, et al. Among authors: percesepe a. Front Endocrinol (Lausanne). 2023 May 10;14:1018441. doi: 10.3389/fendo.2023.1018441. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37234811 Free PMC article.
73 results