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Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Ferese R, Bonetti M, Consoli F, Guida V, Sarkozy A, Lepri FR, Versacci P, Gambardella S, Calcagni G, Margiotti K, Piceci Sparascio F, Hozhabri H, Mazza T, Digilio MC, Dallapiccola B, Tartaglia M, Marino B, Hertog JD, De Luca A. Ferese R, et al. Among authors: mazza t. Hum Mutat. 2018 Oct;39(10):1428-1441. doi: 10.1002/humu.23593. Epub 2018 Jul 30. Hum Mutat. 2018. PMID: 30007050
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM. De Mori R, et al. Among authors: mazza t. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965847 Free PMC article.
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
Nuovo S, Micalizzi A, D'Arrigo S, Ginevrino M, Biagini T, Mazza T, Valente EM. Nuovo S, et al. Among authors: mazza t. Eur J Hum Genet. 2018 Jul;26(7):928-929. doi: 10.1038/s41431-018-0158-7. Epub 2018 May 25. Eur J Hum Genet. 2018. PMID: 29795474 Free PMC article. No abstract available.
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C. Nardella G, et al. Among authors: mazza t. Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30161288
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.
Fusilli C, Migliore S, Mazza T, Consoli F, De Luca A, Barbagallo G, Ciammola A, Gatto EM, Cesarini M, Etcheverry JL, Parisi V, Al-Oraimi M, Al-Harrasi S, Al-Salmi Q, Marano M, Vonsattel JG, Sabatini U, Landwehrmeyer GB, Squitieri F. Fusilli C, et al. Among authors: mazza t. Lancet Neurol. 2018 Nov;17(11):986-993. doi: 10.1016/S1474-4422(18)30294-1. Epub 2018 Sep 19. Lancet Neurol. 2018. PMID: 30243861
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Motta M, Giancotti A, Mastromoro G, Chandramouli B, Pinna V, Pantaleoni F, Di Giosaffatte N, Petrini S, Mazza T, D'Ambrosio V, Versacci P, Ventriglia F, Chillemi G, Pizzuti A, Tartaglia M, De Luca A. Motta M, et al. Among authors: mazza t. Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31059601
235 results