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Page 1
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. Savarese M, et al. Among authors: del vecchio blanco f. Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281536 Free PMC article.
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: del vecchio blanco f. 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.
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies.
Piluso G, Aurino S, Cacciottolo M, Del Vecchio Blanco F, Lancioni A, Rotundo IL, Torella A, Nigro V. Piluso G, et al. Among authors: del vecchio blanco f. Acta Myol. 2010 Jul;29(1):1-20. Acta Myol. 2010. PMID: 22029103 Free PMC article. Review.
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: del vecchio blanco f. PLoS One. 2013 May 7;8(5):e63536. doi: 10.1371/journal.pone.0063536. Print 2013. PLoS One. 2013. PMID: 23667635 Free PMC article.
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V. Grandone A, et al. Among authors: del vecchio blanco f. Clin Genet. 2016 Nov;90(5):445-450. doi: 10.1111/cge.12771. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 26940245
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: del vecchio blanco f. Horm Res Paediatr. 2016;86(5):330-336. doi: 10.1159/000452219. Epub 2016 Oct 27. Horm Res Paediatr. 2016. PMID: 27784012 Clinical Trial.
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: del vecchio blanco f. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
BROX haploinsufficiency in familial nonmedullary thyroid cancer.
Pasquali D, Torella A, Accardo G, Esposito D, Del Vecchio Blanco F, Salvatore D, Sabatino P, Pacini F, Barbato F, Castagna MG, Cantara S, Nigro V. Pasquali D, et al. Among authors: del vecchio blanco f. J Endocrinol Invest. 2021 Jan;44(1):165-171. doi: 10.1007/s40618-020-01286-6. Epub 2020 May 8. J Endocrinol Invest. 2021. PMID: 32385852
29 results