Loudianos G - Search Results

1

Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report.

Gucev ZS, Pop-Jordanova N, Calovska V, Tasic V, Slavevska N, Laban N, Noli MC, Lepori MB, Loudianos G. Gucev ZS, et al. Among authors: loudianos g. Prilozi. 2011;32(2):307-15. Prilozi. 2011. PMID: 22286624

2

Wilson's disease.

Loudianos G, Lepori MB, Mameli E, Dessì V, Zappu A. Loudianos G, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):93-8. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014. PMID: 24798599 Review.

3

ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

Ljubić H, Kalauz M, Telarović S, Ferenci P, Ostojić R, Noli MC, Lepori MB, Hrstić I, Vuković J, Premužić M, Radić D, Ravić KG, Sertić J, Merkler A, Barišić AA, Loudianos G, Vucelić B. Ljubić H, et al. Among authors: loudianos g. Genet Test Mol Biomarkers. 2016 Mar;20(3):112-7. doi: 10.1089/gtmb.2015.0213. Epub 2016 Jan 22. Genet Test Mol Biomarkers. 2016. PMID: 26799313

4

Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.

Zappu A, Lepori MB, Incollu S, Noli MC, De Virgiliis S, Cao A, Loudianos G. Zappu A, et al. Among authors: loudianos g. Mol Cell Probes. 2010 Aug;24(4):233-5. doi: 10.1016/j.mcp.2010.01.004. Epub 2010 Feb 6. Mol Cell Probes. 2010. PMID: 20138984

5

DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.

Incollu S, Lepori MB, Zappu A, Dessì V, Noli MC, Mameli E, Iorio R, Ranucci G, Cao A, Loudianos G. Incollu S, et al. Among authors: loudianos g. Mol Cell Probes. 2011 Oct-Dec;25(5-6):195-8. doi: 10.1016/j.mcp.2011.07.003. Epub 2011 Sep 8. Mol Cell Probes. 2011. PMID: 21925265

6

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

Gialluisi A, Incollu S, Pippucci T, Lepori MB, Zappu A, Loudianos G, Romeo G. Gialluisi A, et al. Among authors: loudianos g. Eur J Hum Genet. 2013 Nov;21(11):1308-11. doi: 10.1038/ejhg.2013.43. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486543 Free PMC article.

7

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

Lepori MB, Zappu A, Incollu S, Dessì V, Mameli E, Demelia L, Nurchi AM, Gheorghe L, Maggiore G, Sciveres M, Leuzzi V, Indolfi G, Bonafé L, Casali C, Angeli P, Barone P, Cao A, Loudianos G. Lepori MB, et al. Among authors: loudianos g. Mol Cell Probes. 2012 Aug;26(4):147-50. doi: 10.1016/j.mcp.2012.03.007. Epub 2012 Mar 29. Mol Cell Probes. 2012. PMID: 22484412

8

Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.

Leggio L, Malandrino N, Loudianos G, Abenavoli L, Lepori MB, Capristo E, De Virgiliis S, Gasbarrini G, Addolorato G. Leggio L, et al. Among authors: loudianos g. Dig Dis Sci. 2007 Oct;52(10):2570-5. doi: 10.1007/s10620-006-9666-3. Epub 2007 Apr 5. Dig Dis Sci. 2007. PMID: 17410460

9

Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.

Zappu A, Lepori MB, Incollu S, Dessì V, Noli MC, Mameli E, Bonafé L, Garcia Dépraz N, De Virgiliis S, Cao A, Loudianos G. Zappu A, et al. Among authors: loudianos g. Mol Cell Probes. 2012 Apr;26(2):63-5. doi: 10.1016/j.mcp.2011.10.002. Epub 2011 Oct 18. Mol Cell Probes. 2012. PMID: 22019423

10

Wilson's disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene.

Mameli E, Lepori MB, Chiappe F, Ranucci G, Di Dato F, Iorio R, Loudianos G. Mameli E, et al. Among authors: loudianos g. Gene. 2015 Sep 15;569(2):276-9. doi: 10.1016/j.gene.2015.05.067. Epub 2015 May 30. Gene. 2015. PMID: 26031236

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