Scarciolla O - Search Results

1

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.

Scarciolla O, Stuppia L, De Angelis MV, Murru S, Palka C, Giuliani R, Pace M, Di Muzio A, Torrente I, Morella A, Grammatico P, Giacanelli M, Rosatelli MC, Uncini A, Dallapiccola B. Scarciolla O, et al. Neurogenetics. 2006 Nov;7(4):269-76. doi: 10.1007/s10048-006-0051-3. Epub 2006 Jul 22. Neurogenetics. 2006. PMID: 16865356

2

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).

Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali-Franchi P, Calabrese G, Uncini A, Stuppia L. Gatta V, et al. Among authors: scarciolla o. Hum Genet. 2005 Jun;117(1):92-8. doi: 10.1007/s00439-005-1270-7. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841391

3

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.

Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B, Uncini A, Palka G, Stuppia L, Dallapiccola B. Scarciolla O, et al. Mov Disord. 2007 Nov 15;22(15):2274-8. doi: 10.1002/mds.21532. Mov Disord. 2007. PMID: 17914726

4

A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.

Gatta V, Scarciolla O, Cupaioli M, Palka C, Chiesa PL, Stuppia L. Gatta V, et al. Among authors: scarciolla o. Mutat Res. 2004 Mar 22;547(1-2):49-53. doi: 10.1016/j.mrfmmm.2003.11.011. Mutat Res. 2004. PMID: 15013698

5

Familial idiopathic hyper-CK-emia: an underrecognized condition.

Capasso M, De Angelis MV, Di Muzio A, Scarciolla O, Pace M, Stuppia L, Comi GP, Uncini A. Capasso M, et al. Among authors: scarciolla o. Muscle Nerve. 2006 Jun;33(6):760-5. doi: 10.1002/mus.20525. Muscle Nerve. 2006. PMID: 16502425

6

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene.

Stuppia L, Gatta V, Scarciolla O, Antonucci I, Morizio E, Calabrese G, Palka G. Stuppia L, et al. Among authors: scarciolla o. Genomics. 2005 Feb;85(2):280-3. doi: 10.1016/j.ygeno.2004.10.015. Genomics. 2005. PMID: 15676287

7

Identification of a novel mutation in the SRY gene in a 46, XY female patient.

Salehi LB, Scarciolla O, Vanni GF, Nardone AM, Frajese G, Novelli G, Stuppia L. Salehi LB, et al. Among authors: scarciolla o. Eur J Med Genet. 2006 Nov-Dec;49(6):494-8. doi: 10.1016/j.ejmg.2006.03.003. Epub 2006 Apr 17. Eur J Med Genet. 2006. PMID: 16675314

8

The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy.

Stuppia L, Gatta V, Scarciolla O, Colosimo A, Guanciali-Franchi P, Calabrese G, Palka G. Stuppia L, et al. Among authors: scarciolla o. J Endocrinol Invest. 2003 Jul;26(7):620-2. doi: 10.1007/BF03347018. J Endocrinol Invest. 2003. PMID: 14594111

9

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian PD Study Group. Marongiu R, et al. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719. Hum Mutat. 2008. PMID: 18330912 Free article.

10

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.

Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, Capalbo A, Benti R, Pezzoli G, Dallapiccola B, Goldwurm S, Valente EM. Marongiu R, et al. Among authors: scarciolla o. Hum Mutat. 2007 Jan;28(1):98. doi: 10.1002/humu.9472. Hum Mutat. 2007. PMID: 17154281

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