Rubinato E - Search Results

1

TBL1Y: a new gene involved in syndromic hearing loss.

Di Stazio M, Collesi C, Vozzi D, Liu W, Myers M, Morgan A, D Adamo PA, Girotto G, Rubinato E, Giacca M, Gasparini P. Di Stazio M, et al. Among authors: rubinato e. Eur J Hum Genet. 2019 Mar;27(3):466-474. doi: 10.1038/s41431-018-0282-4. Epub 2018 Oct 19. Eur J Hum Genet. 2019. PMID: 30341416 Free PMC article.

2

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Vozzi D, Morgan A, Vuckovic D, D'Eustacchio A, Abdulhadi K, Rubinato E, Badii R, Gasparini P, Girotto G. Vozzi D, et al. Among authors: rubinato e. Gene. 2014 Jun 1;542(2):209-16. doi: 10.1016/j.gene.2014.03.033. Epub 2014 Mar 20. Gene. 2014. PMID: 24657061

3

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F. Rubinato E, et al. Gene. 2014 Jul 25;545(2):290-2. doi: 10.1016/j.gene.2014.05.028. Epub 2014 May 14. Gene. 2014. PMID: 24835313

4

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

Lenarduzzi S, Vozzi D, Morgan A, Rubinato E, D'Eustacchio A, Osland TM, Rossi C, Graziano C, Castorina P, Ambrosetti U, Morgutti M, Girotto G. Lenarduzzi S, et al. Among authors: rubinato e. Hear Res. 2015 Feb;320:18-23. doi: 10.1016/j.heares.2014.12.006. Epub 2015 Jan 6. Hear Res. 2015. PMID: 25575603 Free article.

5

PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.

Girotto G, Scheffer DI, Morgan A, Vozzi D, Rubinato E, Di Stazio M, Muzzi E, Pensiero S, Giersch AB, Corey DP, Gasparini P. Girotto G, et al. Among authors: rubinato e. Sci Rep. 2015 Dec 22;5:18568. doi: 10.1038/srep18568. Sci Rep. 2015. PMID: 26689366 Free PMC article.

6

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.

Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, Franzè A, Vozzi D, La Bianca M, Cappellani S, Di Stazio M, Gasparini P, Girotto G. Morgan A, et al. Among authors: rubinato e. Eur J Hum Genet. 2019 Jan;27(1):70-79. doi: 10.1038/s41431-018-0229-9. Epub 2018 Sep 3. Eur J Hum Genet. 2019. PMID: 30177775 Free PMC article.

7

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Tesolin P, Fiorino S, Lenarduzzi S, Rubinato E, Cattaruzzi E, Ammar L, Castro V, Orzan E, Granata C, Dell'Orco D, Morgan A, Girotto G. Tesolin P, et al. Among authors: rubinato e. Genes (Basel). 2021 Oct 1;12(10):1569. doi: 10.3390/genes12101569. Genes (Basel). 2021. PMID: 34680964 Free PMC article.

8

Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.

Caiffa T, Tessitore A, Leoni L, Reffo E, Chicco D, D'Agata Mottolese B, Rubinato E, Girotto G, Lenarduzzi S, Barbi E, Bobbo M, Di Salvo G. Caiffa T, et al. Among authors: rubinato e. Front Pediatr. 2022 Aug 4;10:970240. doi: 10.3389/fped.2022.970240. eCollection 2022. Front Pediatr. 2022. PMID: 35989994 Free PMC article.

9

Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.

Spedicati B, Morgan A, Pianigiani G, Musante L, Rubinato E, Santin A, Nardone GG, Faletra F, Girotto G. Spedicati B, et al. Among authors: rubinato e. Genes (Basel). 2022 Nov 3;13(11):2023. doi: 10.3390/genes13112023. Genes (Basel). 2022. PMID: 36360260 Free PMC article.

10

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Spedicati B, Santin A, Nardone GG, Rubinato E, Lenarduzzi S, Graziano C, Garavelli L, Miccoli S, Bigoni S, Morgan A, Girotto G. Spedicati B, et al. Among authors: rubinato e. Biomedicines. 2023 Feb 24;11(3):703. doi: 10.3390/biomedicines11030703. Biomedicines. 2023. PMID: 36979683 Free PMC article.

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