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Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Pizzuti A, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B. Pizzuti A, et al. Among authors: marino b. Hum Mutat. 2003 Nov;22(5):372-7. doi: 10.1002/humu.10261. Hum Mutat. 2003. PMID: 14517948
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: marino b. 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
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, Cristina Digilio M, Marino B, Zaza A, den Hertog J, Dallapiccola B, De Luca A. Guida V, et al. Among authors: marino b. Eur J Hum Genet. 2013 Jan;21(1):69-75. doi: 10.1038/ejhg.2012.109. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713807 Free PMC article.
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
Niceta M, Margiotti K, Digilio MC, Guida V, Bruselles A, Pizzi S, Ferraris A, Memo L, Laforgia N, Dentici ML, Consoli F, Torrente I, Ruiz-Perez VL, Dallapiccola B, Marino B, De Luca A, Tartaglia M. Niceta M, et al. Among authors: marino b. Clin Genet. 2018 Mar;93(3):632-639. doi: 10.1111/cge.13128. Epub 2018 Jan 24. Clin Genet. 2018. PMID: 28857138
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: marino b. 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.
952 results