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Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature.
Grandone A, Del Vecchio Blanco F, Torella A, Caruso M, De Luca F, Di Mase R, Messina MF, Salerno MC, Sallemi A, Perone L, Marzuillo P, Miraglia Del Giudice E, Nigro V, Perrone L. Grandone A, et al. Among authors: nigro v. Horm Res Paediatr. 2016;86(5):330-336. doi: 10.1159/000452219. Epub 2016 Oct 27. Horm Res Paediatr. 2016. PMID: 27784012 Clinical Trial.
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.
Piluso G, Dionisi M, Del Vecchio Blanco F, Torella A, Aurino S, Savarese M, Giugliano T, Bertini E, Terracciano A, Vainzof M, Criscuolo C, Politano L, Casali C, Santorelli FM, Nigro V. Piluso G, et al. Among authors: nigro v. Clin Chem. 2011 Nov;57(11):1584-96. doi: 10.1373/clinchem.2011.168898. Epub 2011 Sep 6. Clin Chem. 2011. PMID: 21896784 Free article.
Enhancer chip: detecting human copy number variations in regulatory elements.
Savarese M, Piluso G, Orteschi D, Di Fruscio G, Dionisi M, Blanco Fdel V, Torella A, Giugliano T, Iacomino M, Zollino M, Neri G, Nigro V. Savarese M, et al. Among authors: nigro v. PLoS One. 2012;7(12):e52264. doi: 10.1371/journal.pone.0052264. Epub 2012 Dec 20. PLoS One. 2012. PMID: 23284961 Free PMC article.
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Torella A, et al. Among authors: nigro v. PLoS One. 2013 May 7;8(5):e63536. doi: 10.1371/journal.pone.0063536. Print 2013. PLoS One. 2013. PMID: 23667635 Free PMC article.
Familial trisomy 6p in mother and daughter.
Savarese M, Grandone A, Perone L, Blanco Fdel V, De Luca G, Di Fruscio G, Fogu G, Piluso G, Perrone L, del Giudice EM, Nigro V. Savarese M, et al. Among authors: nigro v. Am J Med Genet A. 2013 Jul;161A(7):1675-81. doi: 10.1002/ajmg.a.35928. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23687068
337 results