Coviello D - Search Results

1

Single-nucleotide polymorphisms in 3'-untranslated region inducible costimulator gene and the important roles of miRNA in alopecia areata.

Conteduca G, Rossi A, Megiorni F, Parodi A, Ferrera F, Tardito S, Altosole T, Fausti V, Occella C, Kalli F, Negrini S, Pizzuti A, Marchese C, Rizza E, Indiveri F, Coviello D, Fenoglio D, Filaci G. Conteduca G, et al. Among authors: coviello d. Skin Health Dis. 2021 May 6;1(2):e34. doi: 10.1002/ski2.34. eCollection 2021 Jun. Skin Health Dis. 2021. PMID: 35664973 Free PMC article.

2

NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.

Conteduca G, Cangelosi D, Coco S, Malacarne M, Baldo C, Arado A, Pinto R, Testa B, Coviello DA. Conteduca G, et al. Among authors: coviello da. Life (Basel). 2022 Jul 2;12(7):988. doi: 10.3390/life12070988. Life (Basel). 2022. PMID: 35888078 Free PMC article.

3

Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects.

Conteduca G, Testa B, Baldo C, Arado A, Malacarne M, Candiano G, Garbarino A, Coviello DA, Cantoni C. Conteduca G, et al. Gene. 2023 Jan 30;851:146970. doi: 10.1016/j.gene.2022.146970. Epub 2022 Oct 17. Gene. 2023. PMID: 36261088 Free article.

4

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Testa B, Conteduca G, Grasso M, Cecconi M, Lantieri F, Baldo C, Arado A, Andraghetti L, Malacarne M, Milani D, Coviello D, Sotos Collaborative Group. Testa B, et al. Among authors: coviello d. Genes (Basel). 2023 Jan 22;14(2):295. doi: 10.3390/genes14020295. Genes (Basel). 2023. PMID: 36833222 Free PMC article.

5

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Cabrita Pinto RL, Viaggi S, Canale E, Martinez Popple M, Capra V, Conteduca G, Testa B, Coviello D, Covone AE. Cabrita Pinto RL, et al. Among authors: coviello d. Genes (Basel). 2023 Mar 28;14(4):810. doi: 10.3390/genes14040810. Genes (Basel). 2023. PMID: 37107568 Free PMC article.

6

Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.

Conteduca G, Cangelosi D, Baldo C, Arado A, Testa B, Wagner RT, Robertson KD, Dequiedt F, Fitzsimmons L, Malacarne M, Filaci G, Coviello DA. Conteduca G, et al. Among authors: coviello da. Genes (Basel). 2024 Aug 24;15(9):1117. doi: 10.3390/genes15091117. Genes (Basel). 2024. PMID: 39336709 Free PMC article.

7

Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma.

Amaro A, Parodi F, Diedrich K, Angelini G, Götz C, Viaggi S, Maric I, Coviello D, Pistillo MP, Morabito A, Mandalà M, Ghiorzo P, Visconti P, Gualco M, Anselmi L, Puzone R, Lanza F, Mosci C, Raggi F, Bosco MC, Varesio L, Zeschnigk M, Spano L, Queirolo P, Pfeffer U. Amaro A, et al. Among authors: coviello d. JAMA Ophthalmol. 2016 Oct 1;134(10):1125-1133. doi: 10.1001/jamaophthalmol.2016.2691. JAMA Ophthalmol. 2016. PMID: 27532663

8

19q13 microdeletion syndrome: Further refining the critical region.

Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, Coviello D, Di Maria E, Olivieri I, Di Iorgi N, Faravelli F. Forzano F, et al. Among authors: coviello d. Eur J Med Genet. 2012 Jun;55(6-7):429-32. doi: 10.1016/j.ejmg.2012.03.002. Epub 2012 Apr 10. Eur J Med Genet. 2012. PMID: 22510526

9

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.

Lantieri F, Malacarne M, Gimelli S, Santamaria G, Coviello D, Ceccherini I. Lantieri F, et al. Among authors: coviello d. Int J Mol Sci. 2017 Mar 10;18(3):609. doi: 10.3390/ijms18030609. Int J Mol Sci. 2017. PMID: 28287439 Free PMC article.

10

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene.

Fernández E, Gennaro E, Pirozzi F, Baldo C, Forzano F, Turolla L, Faravelli F, Gastaldo D, Coviello D, Grasso M, Bagni C. Fernández E, et al. Among authors: coviello d. Front Genet. 2018 Nov 2;9:442. doi: 10.3389/fgene.2018.00442. eCollection 2018. Front Genet. 2018. PMID: 30450110 Free PMC article.

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