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Page 1
Nonsyndromic pulmonary valve stenosis and the PTPN11 gene.
Sarkozy A, Conti E, Esposito G, Pizzuti A, Dallapiccola B, Mingarelli R, Marino B, Digilio MC, Paoletti V. Sarkozy A, et al. Am J Med Genet A. 2003 Feb 1;116A(4):389-90. doi: 10.1002/ajmg.a.10036. Am J Med Genet A. 2003. PMID: 12522798 No abstract available.
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B. Brancati F, et al. Among authors: sarkozy a. J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1339-41. doi: 10.1136/jnnp.74.9.1339. J Neurol Neurosurg Psychiatry. 2003. PMID: 12933953 Free PMC article.
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: sarkozy a. Hum Mutat. 2003 Nov;22(5):372-7. doi: 10.1002/humu.10261. Hum Mutat. 2003. PMID: 14517948
A novel PTPN11 mutation in LEOPARD syndrome.
Conti E, Dottorini T, Sarkozy A, Tiller GE, Esposito G, Pizzuti A, Dallapiccola B. Conti E, et al. Among authors: sarkozy a. Hum Mutat. 2003 Jun;21(6):654. doi: 10.1002/humu.9149. Hum Mutat. 2003. PMID: 14961557
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.
Brancati F, Valente EM, Sarkozy A, Fehèr J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. Brancati F, et al. Among authors: sarkozy a. J Med Genet. 2004 Mar;41(3):188-92. doi: 10.1136/jmg.2003.012872. J Med Genet. 2004. PMID: 14985379 Free PMC article. No abstract available.
376 results