Piluso G - Search Results

1

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.

Demidov G, Laurie S, Torella A, Piluso G, Scala M, Morleo M, Nigro V, Graessner H, Banka S; Solve-RD consortium; Lohmann K, Ossowski S. Demidov G, et al. Among authors: piluso g. Eur J Hum Genet. 2024 Aug;32(8):998-1004. doi: 10.1038/s41431-024-01637-4. Epub 2024 May 31. Eur J Hum Genet. 2024. PMID: 38822122 Free PMC article.

2

Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature.

Conforti R, Cirillo M, Marrone V, Galasso R, Capaldo G, Giugliano T, Scuotto A, Piluso G, Melone MA. Conforti R, et al. Among authors: piluso g. Neuropsychiatr Dis Treat. 2014 Jan 20;10:135-40. doi: 10.2147/NDT.S49784. eCollection 2014. Neuropsychiatr Dis Treat. 2014. PMID: 24476631 Free PMC article.

3

Identification and molecular characterization of a novel 55-kb deletion recurrent in southern Italy: the Italian (G) γ((A) γδβ)°-thalassemia.

Lacerra G, Prezioso R, Musollino G, Piluso G, Mastrullo L, De Angioletti M. Lacerra G, et al. Among authors: piluso g. Eur J Haematol. 2013 Mar;90(3):214-9. doi: 10.1111/ejh.12066. Epub 2013 Feb 14. Eur J Haematol. 2013. PMID: 23281611

4

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

Esposito T, Piluso G, Saracino D, Uccello R, Schettino C, Dato C, Capaldo G, Giugliano T, Varriale B, Paolisso G, Di Iorio G, Melone MA. Esposito T, et al. Among authors: piluso g. J Neurochem. 2015 Dec;135(6):1123-8. doi: 10.1111/jnc.13396. Epub 2015 Nov 12. J Neurochem. 2015. PMID: 26478990 Free article.

5

SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.

Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M. Nigro V, et al. Among authors: piluso g. Hum Mol Genet. 1995 Oct;4(10):2003-4. doi: 10.1093/hmg/4.10.2003. Hum Mol Genet. 1995. PMID: 8595433 No abstract available.

6

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

7

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: piluso g. Hum Mutat. 2005 Jan;25(1):82-9. doi: 10.1002/humu.20119. Hum Mutat. 2005. PMID: 15580566

8

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

9

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

10

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.

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