Nigro V - Search Results

1

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: nigro v. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.

2

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.

Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini P, Nigro V. Piluso G, et al. Among authors: nigro v. Hum Genet. 2003 Feb;112(2):124-30. doi: 10.1007/s00439-002-0863-7. Epub 2002 Nov 13. Hum Genet. 2003. PMID: 12522552

3

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C. Fulizio L, et al. Among authors: nigro v. Hum Mutat. 2005 Jan;25(1):82-9. doi: 10.1002/humu.20119. Hum Mutat. 2005. PMID: 15580566

4

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L, Nigro V. Saccone V, et al. Among authors: nigro v. Hum Mutat. 2008 Feb;29(2):240-7. doi: 10.1002/humu.20633. Hum Mutat. 2008. PMID: 17994549

5

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

Trimarco A, Torella A, Piluso G, Maria Ventriglia V, Politano L, Nigro V. Trimarco A, et al. Among authors: nigro v. Clin Chem. 2008 Jun;54(6):973-81. doi: 10.1373/clinchem.2007.097881. Epub 2008 Apr 10. Clin Chem. 2008. PMID: 18403565

6

A missense mutation in CASK causes FG syndrome in an Italian family.

Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V. Piluso G, et al. Among authors: nigro v. Am J Hum Genet. 2009 Feb;84(2):162-77. doi: 10.1016/j.ajhg.2008.12.018. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200522 Free PMC article.

7

Candidate-gene testing for orphan limb-girdle muscular dystrophies.

Aurino S, Piluso G, Saccone V, Cacciottolo M, D'Amico F, Dionisi M, Totaro A, Belsito A, Di Vicino U, Nigro V. Aurino S, et al. Among authors: nigro v. Acta Myol. 2008 Dec;27(3):90-7. Acta Myol. 2008. PMID: 19472918 Free PMC article.

8

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

Torella A, Trimarco A, Blanco Fdel V, Cuomo A, Aurino S, Piluso G, Minetti C, Politano L, Nigro V. Torella A, et al. Among authors: nigro v. J Mol Diagn. 2010 Jan;12(1):65-73. doi: 10.2353/jmoldx.2010.090074. Epub 2009 Dec 3. J Mol Diagn. 2010. PMID: 19959795 Free PMC article.

9

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V. Cacciottolo M, et al. Among authors: nigro v. Eur J Hum Genet. 2011 Sep;19(9):974-80. doi: 10.1038/ejhg.2011.70. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522182 Free PMC article.

10

Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.

Nigro V, Aurino S, Piluso G. Nigro V, et al. Curr Opin Neurol. 2011 Oct;24(5):429-36. doi: 10.1097/WCO.0b013e32834aa38d. Curr Opin Neurol. 2011. PMID: 21825984 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

323 results

Search Page