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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. Roosing S, et al. Among authors: mazza t. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6. J Med Genet. 2016. PMID: 27208211 Free PMC article.
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.
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
Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.
Di Stolfo G, Palumbo P, Castellana S, Mastroianno S, Biagini T, Palumbo O, Leone MP, De Luca G, Potenza DR, Mazza T, Russo AA, Carella M. Di Stolfo G, et al. Among authors: mazza t. J Electrocardiol. 2018 Sep-Oct;51(5):809-813. doi: 10.1016/j.jelectrocard.2018.06.005. Epub 2018 Jun 9. J Electrocardiol. 2018. PMID: 30177317
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete.
Castellana S, Mastroianno S, Palumbo P, Palumbo O, Biagini T, Leone MP, De Luca G, Potenza DR, Amico CM, Mazza T, Russo A, Di Stolfo G, Carella M. Castellana S, et al. Among authors: mazza t. J Electrocardiol. 2019 Mar-Apr;53:95-99. doi: 10.1016/j.jelectrocard.2019.01.002. Epub 2019 Jan 2. J Electrocardiol. 2019. PMID: 30716529
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
Mastroianno S, Palumbo P, Castellana S, Leone MP, Massaro R, Potenza DR, Mazza T, Russo A, Castori M, Carella M, Di Stolfo G. Mastroianno S, et al. Among authors: mazza t. Ann Noninvasive Electrocardiol. 2020 May;25(3):e12687. doi: 10.1111/anec.12687. Epub 2019 Sep 16. Ann Noninvasive Electrocardiol. 2020. PMID: 31524317 Free PMC article.
236 results