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Page 1
Another patient with 12q13 microduplication.
Bertoli M, Alesi V, Gullotta F, Zampatti S, Abate MR, Palmieri C, Novelli A, Frontali M, Nardone AM. Bertoli M, et al. Among authors: frontali m. Am J Med Genet A. 2013 Aug;161A(8):2004-8. doi: 10.1002/ajmg.a.35991. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824684
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
D'Apice MR, Novelli A, di Masi A, Biancolella M, Antoccia A, Gullotta F, Licata N, Minella D, Testa B, Nardone AM, Palmieri G, Calabrese E, Biancone L, Tanzarella C, Frontali M, Sangiuolo F, Novelli G, Pallone F. D'Apice MR, et al. Among authors: frontali m. BMC Med Genet. 2015 Apr 2;16:20. doi: 10.1186/s12881-015-0164-3. BMC Med Genet. 2015. PMID: 25927938 Free PMC article.
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman K, Williams M, Volsen S, Ophoff R, Frants R, Jodice C, Frontali M, Pietrobon D. Guida S, et al. Among authors: frontali m. Am J Hum Genet. 2001 Mar;68(3):759-64. doi: 10.1086/318804. Epub 2001 Feb 1. Am J Hum Genet. 2001. PMID: 11179022 Free PMC article.
"Microcytogenetics" and Langer-Giedion syndrome.
Frontali M, Ramenghi M, Trabace S, Dallapiccola B. Frontali M, et al. J Med Genet. 1982 Oct;19(5):390-1. doi: 10.1136/jmg.19.5.390-a. J Med Genet. 1982. PMID: 7143397 Free PMC article. No abstract available.
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Tiano F, Amati F, Cherubini F, Morini E, Vancheri C, Maletta S, Fortuni S, Serio D, Quatrana A, Luffarelli R, Benini M, Alfedi G, Panarello L, Rufini A, Toschi N, Frontali M, Romano S, Marcotulli C, Casali C, Gioiosa S, Mariotti C, Mongelli A, Fichera M, Condò I, Novelli G, Testi R, Malisan F. Tiano F, et al. Among authors: frontali m. Hum Mol Genet. 2020 Feb 1;29(3):471-482. doi: 10.1093/hmg/ddz306. Hum Mol Genet. 2020. PMID: 31943004
110 results