Mandrile G - Search Results

1

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.

Ricci MT, Menegon S, Vatrano S, Mandrile G, Cerrato N, Carvalho P, De Marchi M, Gaita F, Giustetto C, Giachino DF. Ricci MT, et al. Among authors: mandrile g. Sci Rep. 2014 Sep 25;4:6470. doi: 10.1038/srep06470. Sci Rep. 2014. PMID: 25253298 Free PMC article.

2

Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer.

Giachino DF, Ghio P, Regazzoni S, Mandrile G, Novello S, Selvaggi G, Gregori D, DeMarchi M, Scagliotti GV. Giachino DF, et al. Among authors: mandrile g. Clin Cancer Res. 2007 May 15;13(10):2876-81. doi: 10.1158/1078-0432.CCR-06-2543. Clin Cancer Res. 2007. PMID: 17504986 Clinical Trial.

3

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance.

Mandrile G, Robbiano A, Giachino DF, Sebastiano R, Dondi E, Fenoglio R, Stratta P, Caruso MR, Petrarulo M, Marangella M, De Marchi M. Mandrile G, et al. Urol Res. 2008 Dec;36(6):309-12. doi: 10.1007/s00240-008-0162-4. Epub 2008 Nov 5. Urol Res. 2008. PMID: 18985333

4

Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.

Robbiano A, Frecer V, Miertus J, Zadro C, Ulivi S, Bevilacqua E, Mandrile G, De Marchi M, Miertus S, Amoroso A. Robbiano A, et al. Among authors: mandrile g. J Nephrol. 2010 Nov-Dec;23(6):667-76. J Nephrol. 2010. PMID: 20564000 Free article.

5

Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.

Robbiano A, Mandrile G, De Marchi M, Beck B, Baasner A, Murer L, Benetti E, Giachino D. Robbiano A, et al. Among authors: mandrile g. Hum Genet. 2010 Apr;127(4):468. Hum Genet. 2010. PMID: 21488232 No abstract available.

6

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Mosca L, Marazzi R, Ciccone A, Santilli I, Bersano A, Sansone V, Grosso E, Mandrile G, Giachino DF, Adobbati L, Corengia E, Agostoni E, Fiumani A, Gallone S, Scarpini E, Guidotti M, Sterzi R, Ajmone C, Marocchi A, Penco S. Mosca L, et al. Among authors: mandrile g. J Neurol Sci. 2011 Aug 15;307(1-2):144-8. doi: 10.1016/j.jns.2011.04.019. Epub 2011 May 26. J Neurol Sci. 2011. PMID: 21616505 Free article.

7

BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease.

Giordano R, Marzotti S, Berardelli R, Karamouzis I, Brozzetti A, D'Angelo V, Mengozzi G, Mandrile G, Giachino D, Migliaretti G, Bini V, Falorni A, Ghigo E, Arvat E. Giordano R, et al. Among authors: mandrile g. Clin Endocrinol (Oxf). 2012 Dec;77(6):863-70. doi: 10.1111/j.1365-2265.2012.04439.x. Clin Endocrinol (Oxf). 2012. PMID: 22587831 Free article.

8

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F. Fallerini C, et al. Among authors: mandrile g. Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24033287

9

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.

Mandrile G, Gallus GN, Mura G, Di Sapio A, Sotgiu MA, Montella A, Giachino DF, Dotti MT, Ulgheri L, Federico A. Mandrile G, et al. Neurol Sci. 2014 Aug;35(8):1303-5. doi: 10.1007/s10072-014-1696-6. Epub 2014 Mar 2. Neurol Sci. 2014. PMID: 24584636 Free article. No abstract available.

10

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.

Montioli R, Roncador A, Oppici E, Mandrile G, Giachino DF, Cellini B, Borri Voltattorni C. Montioli R, et al. Among authors: mandrile g. Hum Mol Genet. 2014 Nov 15;23(22):5998-6007. doi: 10.1093/hmg/ddu329. Epub 2014 Jul 2. Hum Mol Genet. 2014. PMID: 24990153 Free PMC article.

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