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Page 1
Array technology in prenatal diagnosis.
Zuffardi O, Vetro A, Brady P, Vermeesch J. Zuffardi O, et al. Among authors: vetro a. Semin Fetal Neonatal Med. 2011 Apr;16(2):94-8. doi: 10.1016/j.siny.2010.12.001. Epub 2011 Jan 5. Semin Fetal Neonatal Med. 2011. PMID: 21208835 Review.
The introduction of arrays in prenatal diagnosis: a special challenge.
Vetro A, Bouman K, Hastings R, McMullan DJ, Vermeesch JR, Miller K, Sikkema-Raddatz B, Ledbetter DH, Zuffardi O, van Ravenswaaij-Arts CM. Vetro A, et al. Hum Mutat. 2012 Jun;33(6):923-9. doi: 10.1002/humu.22050. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22508381
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. De Gregori M, et al. Among authors: vetro a. J Med Genet. 2007 Dec;44(12):750-62. doi: 10.1136/jmg.2007.052787. Epub 2007 Aug 31. J Med Genet. 2007. PMID: 17766364 Free PMC article.
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.
Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso AR, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto AM, Comas JV, Ferrazzi P, Zuffardi O. Iascone M, et al. Among authors: vetro a. Clin Genet. 2012 Jun;81(6):542-54. doi: 10.1111/j.1399-0004.2011.01674.x. Epub 2011 Apr 25. Clin Genet. 2012. PMID: 21457232
PRKACB and Carney complex.
Forlino A, Vetro A, Garavelli L, Ciccone R, London E, Stratakis CA, Zuffardi O. Forlino A, et al. Among authors: vetro a. N Engl J Med. 2014 Mar 13;370(11):1065-7. doi: 10.1056/NEJMc1309730. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571725 No abstract available.
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.
Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O. Vetro A, et al. Clin Genet. 2018 Mar;93(3):545-556. doi: 10.1111/cge.13060. Epub 2017 Sep 15. Clin Genet. 2018. PMID: 28556904
XX males SRY negative: a confirmed cause of infertility.
Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O. Vetro A, et al. J Med Genet. 2011 Oct;48(10):710-2. doi: 10.1136/jmedgenet-2011-100036. Epub 2011 Jun 7. J Med Genet. 2011. PMID: 21653197 Free PMC article.
179 results