Biolcati G - Search Results

1

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A. Nemethova M, et al. Among authors: biolcati g. Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25. Eur J Hum Genet. 2016. PMID: 25804398 Free PMC article.

2

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

Aurizi C, Schneider-Yin X, Sorge F, Macrì A, Minder EI, Biolcati G. Aurizi C, et al. Among authors: biolcati g. Mol Genet Metab. 2007 Apr;90(4):402-7. doi: 10.1016/j.ymgme.2006.10.012. Epub 2006 Dec 29. Mol Genet Metab. 2007. PMID: 17196862

3

Four novel mutations of the coproporphyrinogen III oxidase gene.

Aurizi C, Lupia Palmieri G, Barbieri L, Macrì A, Sorge F, Usai G, Biolcati G. Aurizi C, et al. Among authors: biolcati g. Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):15-8. Cell Mol Biol (Noisy-le-grand). 2009. PMID: 19267996

4

Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.

Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P. Radio FC, et al. Among authors: biolcati g. Blood Cells Mol Dis. 2015 Jun;55(1):71-5. doi: 10.1016/j.bcmd.2015.04.001. Epub 2015 Apr 16. Blood Cells Mol Dis. 2015. PMID: 25976471

5

Efficacy of the melanocortin analogue Nle4-D-Phe7-α-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease.

Biolcati G, Aurizi C, Barbieri L, Cialfi S, Screpanti I, Talora C. Biolcati G, et al. Clin Exp Dermatol. 2014 Mar;39(2):168-75. doi: 10.1111/ced.12203. Epub 2013 Oct 25. Clin Exp Dermatol. 2014. PMID: 24256215 Free PMC article. Clinical Trial.

6

Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria.

Biolcati G, Marchesini E, Sorge F, Barbieri L, Schneider-Yin X, Minder EI. Biolcati G, et al. Br J Dermatol. 2015 Jun;172(6):1601-1612. doi: 10.1111/bjd.13598. Epub 2015 Apr 30. Br J Dermatol. 2015. PMID: 25494545 Clinical Trial.

7

Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.

Barman-Aksoezen J, Girelli D, Aurizi C, Schneider-Yin X, Campostrini N, Barbieri L, Minder EI, Biolcati G. Barman-Aksoezen J, et al. Among authors: biolcati g. J Inherit Metab Dis. 2017 May;40(3):433-441. doi: 10.1007/s10545-017-0017-7. Epub 2017 Feb 9. J Inherit Metab Dis. 2017. PMID: 28185024

8

Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.

D'Amato M, Bonuglia M, Barile S, Griso D, Macri A, Biolcati G. D'Amato M, et al. Among authors: biolcati g. Hum Mutat. 2003 Apr;21(4):448. doi: 10.1002/humu.9125. Hum Mutat. 2003. PMID: 12655566

9

Association between porphyria cutanea tarda and beta-thalassemia major.

Barbieri L, Macrì A, Lupia Palmieri G, Aurizi C, Biolcati G. Barbieri L, et al. Among authors: biolcati g. Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):36-9. Cell Mol Biol (Noisy-le-grand). 2009. PMID: 19656449

10

Glutathione S-transferase ϴ-subunit as a phenotypic suppressor of pmr1Δ strain, the Kluyveromyces lactis model for Hailey-Hailey disease.

Ficociello G, Zanni E, Cialfi S, Aurizi C, Biolcati G, Palleschi C, Talora C, Uccelletti D. Ficociello G, et al. Among authors: biolcati g. Biochim Biophys Acta. 2016 Nov;1863(11):2650-2657. doi: 10.1016/j.bbamcr.2016.08.002. Epub 2016 Aug 11. Biochim Biophys Acta. 2016. PMID: 27523793 Free article.

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