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

Year Number of Results
2013 1
2014 7
2015 8
2016 6
2017 4
2018 4
2019 3
2020 4
2021 2
2022 3
2023 1
2024 0

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36 results

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Page 1
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L. Moresco G, et al. Among authors: scuvera g. Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1. Genes Genomics. 2023. PMID: 36454368
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Magri F, Antognozzi S, Ripolone M, Zanotti S, Napoli L, Ciscato P, Velardo D, Scuvera G, Nicotra V, Giacobbe A, Milani D, Fortunato F, Garbellini M, Sciacco M, Corti S, Comi GP, Ronchi D. Magri F, et al. Among authors: scuvera g. Skelet Muscle. 2022 Sep 29;12(1):23. doi: 10.1186/s13395-022-00306-8. Skelet Muscle. 2022. PMID: 36175989 Free PMC article. Review.
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.
Tannorella P, Minervino D, Guzzetti S, Vimercati A, Calzari L, Patti G, Maghnie M, Allegri AEM, Milani D, Scuvera G, Mariani M, Modena P, Selicorni A, Larizza L, Russo S. Tannorella P, et al. Among authors: scuvera g. Genes (Basel). 2021 Apr 17;12(4):588. doi: 10.3390/genes12040588. Genes (Basel). 2021. PMID: 33920573 Free PMC article.
Family burden of children suffering from epidermolysis bullosa.
DE Stefano S, Grassi FS, Lalatta F, Scuvera G, Brena M, Grillo P, Peves Rios WE, Guez S. DE Stefano S, et al. Among authors: scuvera g. Ital J Dermatol Venerol. 2021 Oct;156(5):580-587. doi: 10.23736/S2784-8671.20.06613-4. Epub 2020 Oct 9. Ital J Dermatol Venerol. 2021. PMID: 33034432
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Aleo S, Cinnante C, Avignone S, Prada E, Scuvera G, Ajmone PF, Selicorni A, Costantino MA, Triulzi F, Marchisio P, Gervasini C, Milani D. Aleo S, et al. Among authors: scuvera g. Front Cell Dev Biol. 2020 Aug 4;8:710. doi: 10.3389/fcell.2020.00710. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32850830 Free PMC article.
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G, Eoli M, Cesaretti C, Bianchessi D, Ibba MC, Esposito S, Scuvera G, Morcaldi G, Micheli R, Piozzi E, Avignone S, Chiapparini L, Pantaleoni C, Natacci F, Finocchiaro G, Saletti V. Melloni G, et al. Among authors: scuvera g. Cancers (Basel). 2019 Nov 21;11(12):1838. doi: 10.3390/cancers11121838. Cancers (Basel). 2019. PMID: 31766501 Free PMC article.
Unexpected phenotype in a frameshift mutation of PTCH1.
Beltrami B, Prada E, Tolva G, Scuvera G, Silipigni R, Graziani D, Bulfamante G, Gervasini C, Marchisio P, Milani D. Beltrami B, et al. Among authors: scuvera g. Mol Genet Genomic Med. 2020 Jan;8(1):e987. doi: 10.1002/mgg3.987. Epub 2019 Oct 2. Mol Genet Genomic Med. 2020. PMID: 31578813 Free PMC article.
36 results