Di Iorio E - Search Results

1

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.

Di Iorio E, Adamo GG, Sorrentino U, De Nadai K, Barbaro V, Mura M, Pellegrini M, Boaretto F, Tavolato M, Suppiej A, Nasini F, Salviati L, Parmeggiani F. Di Iorio E, et al. Sci Rep. 2024 Aug 10;14(1):18580. doi: 10.1038/s41598-024-69640-9. Sci Rep. 2024. PMID: 39127808 Free PMC article.

2

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.

Parmeggiani F, Barbaro V, De Nadai K, Lavezzo E, Toppo S, Chizzolini M, Palù G, Parolin C, Di Iorio E. Parmeggiani F, et al. Among authors: di iorio e. Sci Rep. 2016 Dec 20;6:39179. doi: 10.1038/srep39179. Sci Rep. 2016. PMID: 27995965 Free PMC article.

3

Retinitis pigmentosa: genes and disease mechanisms.

Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentino FS, Parmeggiani F. Ferrari S, et al. Among authors: di iorio e. Curr Genomics. 2011 Jun;12(4):238-49. doi: 10.2174/138920211795860107. Curr Genomics. 2011. PMID: 22131869 Free PMC article.

4

Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.

Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E. Parmeggiani F, et al. Among authors: di iorio e. Eur J Ophthalmol. 2017 Mar 10;27(2):240-248. doi: 10.5301/ejo.5000879. Epub 2016 Oct 21. Eur J Ophthalmol. 2017. PMID: 27768226

5

Multimodal imaging quality control of epithelia regenerated with cultured human donor corneal limbal epithelial stem cells.

Lombardo M, Serrao S, Barbaro V, Di Iorio E, Lombardo G. Lombardo M, et al. Among authors: di iorio e. Sci Rep. 2017 Jul 11;7(1):5154. doi: 10.1038/s41598-017-05486-8. Sci Rep. 2017. PMID: 28698576 Free PMC article.

6

Reconstruction of a human hemicornea through natural scaffolds compatible with the growth of corneal epithelial stem cells and stromal keratocytes.

Barbaro V, Ferrari S, Fasolo A, Ponzin D, Di Iorio E. Barbaro V, et al. Among authors: di iorio e. Mol Vis. 2009 Oct 17;15:2084-93. Mol Vis. 2009. PMID: 19862337 Free PMC article.

7

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis.

Barbaro V, Nardiello P, Castaldo G, Willoughby CE, Ferrari S, Ponzin D, Amato F, Bonifazi E, Parekh M, Calistri A, Parolin C, Di Iorio E. Barbaro V, et al. Among authors: di iorio e. Am J Med Genet A. 2012 Aug;158A(8):1957-61. doi: 10.1002/ajmg.a.35414. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740388

8

Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome.

Barbaro V, Confalonieri L, Vallini I, Ferrari S, Ponzin D, Mantero G, Willoughby CE, Parekh M, Di Iorio E. Barbaro V, et al. Among authors: di iorio e. J Mol Diagn. 2012 Jan;14(1):38-45. doi: 10.1016/j.jmoldx.2011.07.008. Epub 2011 Nov 4. J Mol Diagn. 2012. PMID: 22056627 Free article.

9

Techniques for culture and assessment of limbal stem cell grafts.

Di Iorio E, Ferrari S, Fasolo A, Böhm E, Ponzin D, Barbaro V. Di Iorio E, et al. Ocul Surf. 2010 Jul;8(3):146-53. doi: 10.1016/s1542-0124(12)70225-2. Ocul Surf. 2010. PMID: 20712971

10

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

Di Iorio E, Kaye SB, Ponzin D, Barbaro V, Ferrari S, Böhm E, Nardiello P, Castaldo G, McGrath JA, Willoughby CE. Di Iorio E, et al. Ophthalmology. 2012 Jan;119(1):74-83. doi: 10.1016/j.ophtha.2011.06.044. Epub 2011 Sep 28. Ophthalmology. 2012. PMID: 21959367

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