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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. 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.
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: di stazio m. 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.
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
Callea M, Willoughby CE, Nieminen P, Di Stazio M, Bellacchio E, Giglio S, Sani I, Vinciguerra A, Maglione M, Tadini G, Clarich G. Callea M, et al. Among authors: di stazio m. J Eur Acad Dermatol Venereol. 2015 May;29(5):1032-4. doi: 10.1111/jdv.12457. Epub 2014 Mar 18. J Eur Acad Dermatol Venereol. 2015. PMID: 24641098 No abstract available.
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.
Bianco AM, Ragusa G, Di Carlo V, Faletra F, Di Stazio M, Racano C, Trisolino G, Cappellani S, De Pellegrin M, d'Addetta I, Carluccio G, Monforte S, Andreacchio A, Dibello D, d'Adamo AP. Bianco AM, et al. Among authors: di stazio m. Genes (Basel). 2022 Oct 27;13(11):1958. doi: 10.3390/genes13111958. Genes (Basel). 2022. PMID: 36360195 Free PMC article.
23 results