Sarkozy A - Search Results

1

Familial transposition of the great arteries caused by multiple mutations in laterality genes.

De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML, Mingarelli R, Bellacchio E, Tuo G, Limongelli G, Digilio MC, Marino B, Dallapiccola B. De Luca A, et al. Among authors: sarkozy a. Heart. 2010 May;96(9):673-7. doi: 10.1136/hrt.2009.181685. Epub 2009 Nov 20. Heart. 2010. PMID: 19933292

2

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries.

Piacentini G, Digilio MC, Capolino R, Zorzi AD, Toscano A, Sarkozy A, D'Agostino R, Marasini M, Russo MG, Dallapiccola B, Marino B. Piacentini G, et al. Among authors: sarkozy a. Am J Med Genet A. 2005 Aug 30;137(2):176-80. doi: 10.1002/ajmg.a.30859. Am J Med Genet A. 2005. PMID: 16059940

3

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.

De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, De Zorzi A, Versacci P, Digilio MC, Marino B, Dallapiccola B. De Luca A, et al. Among authors: sarkozy a. Clin Genet. 2011 Aug;80(2):184-90. doi: 10.1111/j.1399-0004.2010.01523.x. Epub 2010 Aug 2. Clin Genet. 2011. PMID: 20807224

4

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.

Conti E, Grifone N, Sarkozy A, Tandoi C, Marino B, Digilio MC, Mingarelli R, Pizzuti A, Dallapiccola B. Conti E, et al. Among authors: sarkozy a. Eur J Hum Genet. 2003 Apr;11(4):349-51. doi: 10.1038/sj.ejhg.5200956. Eur J Hum Genet. 2003. PMID: 12700609

5

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

Sarkozy A, Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Eur J Hum Genet. 2004 Dec;12(12):1069-72. doi: 10.1038/sj.ejhg.5201290. Eur J Hum Genet. 2004. PMID: 15470362

6

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. 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

7

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: sarkozy a. 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.

8

Leopard syndrome.

Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.

9

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B. Dentici ML, et al. Among authors: sarkozy a. Eur J Hum Genet. 2009 Jun;17(6):733-40. doi: 10.1038/ejhg.2008.256. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156172 Free PMC article.

10

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: sarkozy a. 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.

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