Piluso G - Search Results

1

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Zacchia M, Blanco FDV, Trepiccione F, Blasio G, Torella A, Melluso A, Capolongo G, Pollastro RM, Piluso G, Di Iorio V, Simonelli F, Viggiano D, Perna A, Nigro V, Capasso G. Zacchia M, et al. Among authors: piluso g. J Nephrol. 2021 Dec;34(6):1855-1874. doi: 10.1007/s40620-021-01048-4. Epub 2021 May 8. J Nephrol. 2021. PMID: 33964006 Free PMC article.

2

Identification and characterization of a novel member of the dystrobrevin gene family.

Puca AA, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi E, Di Iorio G, Ballabio A, Franco B. Puca AA, et al. Among authors: piluso g. FEBS Lett. 1998 Mar 20;425(1):7-13. doi: 10.1016/s0014-5793(98)00097-0. FEBS Lett. 1998. PMID: 9540997 Free article.

3

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. Hum Genet. 2003 Feb;112(2):124-30. doi: 10.1007/s00439-002-0863-7. Epub 2002 Nov 13. Hum Genet. 2003. PMID: 12522552

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: piluso g. 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: piluso g. 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. 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

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: piluso g. 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.

8

Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing.

Bonnal RJ, Severgnini M, Castaldi A, Bordoni R, Iacono M, Trimarco A, Torella A, Piluso G, Aurino S, Condorelli G, De Bellis G, Nigro V. Bonnal RJ, et al. Among authors: piluso g. Anal Biochem. 2010 Nov 15;406(2):176-84. doi: 10.1016/j.ab.2010.07.022. Epub 2010 Jul 27. Anal Biochem. 2010. PMID: 20670611

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: piluso g. 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. Among authors: piluso g. Curr Opin Neurol. 2011 Oct;24(5):429-36. doi: 10.1097/WCO.0b013e32834aa38d. Curr Opin Neurol. 2011. PMID: 21825984 Review.

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