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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: digilio mc. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Digilio MC, Pacileo G, Sarkozy A, Limongelli G, Conti E, Cerrato F, Marino B, Pizzuti A, Calabrò R, Dallapiccola B. Digilio MC, et al. Birth Defects Res A Clin Mol Teratol. 2004 Feb;70(2):95-8. doi: 10.1002/bdra.10148. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 14991917
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
Sarkozy A, Conti E, D'Agostino R, Digilio MC, Formigari R, Picchio F, Marino B, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Among authors: digilio mc. Am J Med Genet A. 2005 Feb 15;133A(1):68-70. doi: 10.1002/ajmg.a.30534. Am J Med Genet A. 2005. PMID: 15643620
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: digilio mc. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.
435 results