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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P. Bottillo I, et al. Among authors: bargiacchi s. Eur J Hum Genet. 2023 Apr;31(4):474-478. doi: 10.1038/s41431-022-01270-z. Epub 2022 Dec 19. Eur J Hum Genet. 2023. PMID: 36529819 Free PMC article.
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. Laino L, et al. Among authors: bargiacchi s. Eur J Paediatr Neurol. 2016 Nov;20(6):971-976. doi: 10.1016/j.ejpn.2016.07.003. Epub 2016 Jul 11. Eur J Paediatr Neurol. 2016. PMID: 27470653
A novel germline mutation in CDK4 codon 24 associated to familial melanoma.
Bottillo I, La Starza R, Radio FC, Molica C, Pedace L, Pierini T, De Bernardo C, Stingeni L, Bargiacchi S, Paiardini A, Janson G, Mecucci C, Grammatico P. Bottillo I, et al. Among authors: bargiacchi s. Clin Genet. 2018 Apr;93(4):934-935. doi: 10.1111/cge.13129. Epub 2017 Nov 10. Clin Genet. 2018. PMID: 29124743 No abstract available.
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature.
Nicolazzo C, Barault L, Caponnetto S, De Renzi G, Belardinilli F, Bottillo I, Bargiacchi S, Macagno M, Grammatico P, Giannini G, Cortesi E, Di Nicolantonio F, Gazzaniga P. Nicolazzo C, et al. Among authors: bargiacchi s. Cancer Lett. 2021 Jun 1;507:89-96. doi: 10.1016/j.canlet.2021.03.014. Epub 2021 Mar 18. Cancer Lett. 2021. PMID: 33744389
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
Di Giosaffatte N, Bottillo I, Laino L, Iaquinta G, Ferraris A, Garzia M, Bargiacchi S, Mulargia C, Angelitti MR, Palumbo F, Grammatico B, Bartolelli C, Salerno MG, Rigacci L, Grammatico P. Di Giosaffatte N, et al. Among authors: bargiacchi s. Prenat Diagn. 2022 Jul;42(8):1000-1003. doi: 10.1002/pd.6158. Epub 2022 May 7. Prenat Diagn. 2022. PMID: 35506546 Free PMC article.
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Di Giosaffatte N, Ferraris A, Gaudioso F, Lodato V, Savino E, Celletti C, Camerota F, Bargiacchi S, Laino L, Majore S, Bottillo I, Grammatico P. Di Giosaffatte N, et al. Among authors: bargiacchi s. Genes (Basel). 2022 Dec 14;13(12):2358. doi: 10.3390/genes13122358. Genes (Basel). 2022. PMID: 36553625 Free PMC article.
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Bottillo I, Laino L, Azzarà A, Lintas C, Cassano I, Di Lazzaro V, Ursini F, Motolese F, Bargiacchi S, Formicola D, Grammatico P, Gurrieri F. Bottillo I, et al. Among authors: bargiacchi s. Front Neurosci. 2024 Jan 5;17:1304080. doi: 10.3389/fnins.2023.1304080. eCollection 2023. Front Neurosci. 2024. PMID: 38249578 Free PMC article.
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Murro V, Banfi S, Testa F, Iarossi G, Falsini B, Sodi A, Signorini S, Iolascon A, Russo R, Mucciolo DP, Caputo R, Bacci GM, Bargiacchi S, Turco S, Fortini S, Simonelli F. Murro V, et al. Among authors: bargiacchi s. Orphanet J Rare Dis. 2023 Jul 31;18(1):223. doi: 10.1186/s13023-023-02798-z. Orphanet J Rare Dis. 2023. PMID: 37525225 Free PMC article. Review.
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.
Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Peluso F, de Baere E, Zeitz C, Leroy BP, Secci J, Bacci GM. Marziali E, et al. Among authors: bargiacchi s. Ophthalmic Genet. 2023 Apr;44(2):152-162. doi: 10.1080/13816810.2022.2132514. Epub 2022 Dec 5. Ophthalmic Genet. 2023. PMID: 36469668
29 results