Porfirio B - 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: porfirio b. 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

Alkaptonuria, ochronosis, and ochronotic arthropathy.

Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airó P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B. Mannoni A, et al. Among authors: porfirio b. Semin Arthritis Rheum. 2004 Feb;33(4):239-48. doi: 10.1053/s0049-0172(03)00080-5. Semin Arthritis Rheum. 2004. PMID: 14978662

3

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

Beltrán-Valero de Bernabé D, Granadino B, Chiarelli I, Porfirio B, Mayatepek E, Aquaron R, Moore MM, Festen JJ, Sanmartí R, Peñalva MA, de Córdoba SR. Beltrán-Valero de Bernabé D, et al. Among authors: porfirio b. Am J Hum Genet. 1998 Apr;62(4):776-84. doi: 10.1086/301805. Am J Hum Genet. 1998. PMID: 9529363 Free PMC article.

4

A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.

Porfirio B, Sestini R, Gorelli G, Cordovana M, Mannoni A, Usher JL, Introne WJ, Gahl WA, Vilboux T. Porfirio B, et al. JIMD Rep. 2016;30:45-52. doi: 10.1007/8904_2016_534. Epub 2016 Mar 10. JIMD Rep. 2016. PMID: 26960557 Free PMC article.

5

Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.

Porfirio B, Chiarelli I, Graziano C, Mannoni A, Morrone A, Zammarchi E, De Bernabé DB, De Córdoba SR. Porfirio B, et al. J Med Genet. 2000 Apr;37(4):309-12. doi: 10.1136/jmg.37.4.309. J Med Genet. 2000. PMID: 10819641 Free PMC article. No abstract available.

6

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.

Paganini I, Sestini R, Capone GL, Putignano AL, Contini E, Giotti I, Gensini F, Marozza A, Barilaro A, Porfirio B, Papi L. Paganini I, et al. Among authors: porfirio b. Clin Genet. 2017 Dec;92(6):664-668. doi: 10.1111/cge.13085. Epub 2017 Oct 24. Clin Genet. 2017. PMID: 28657137

7

Functional polymorphisms of the microsomal epoxide hydrolase gene: a reappraisal on a early-onset lung cancer patients series.

Graziano C, Comin CE, Crisci C, Novelli L, Politi L, Messerini L, Andreani M, Porfirio B. Graziano C, et al. Among authors: porfirio b. Lung Cancer. 2009 Feb;63(2):187-93. doi: 10.1016/j.lungcan.2008.05.004. Epub 2008 Jun 20. Lung Cancer. 2009. PMID: 18571762

8

Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy.

Graziano C, Bertini E, Minetti C, Porfirio B. Graziano C, et al. Among authors: porfirio b. Int J Mol Med. 2004 Jun;13(6):805-9. Int J Mol Med. 2004. PMID: 15138616

9

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.

Bacci C, Sestini R, Provenzano A, Paganini I, Mancini I, Porfirio B, Vivarelli R, Genuardi M, Papi L. Bacci C, et al. Among authors: porfirio b. Neurogenetics. 2010 Feb;11(1):73-80. doi: 10.1007/s10048-009-0204-2. Epub 2009 Jul 7. Neurogenetics. 2010. PMID: 19582488

10

Fragile sites and chromosome instability: the distribution of breaks induced by cis-diamine-dichloro-platinum (II) in Fanconi anemia lymphocyte cultures.

Porfirio B, Smeets D, Beckers L, Caporossi D, Tedeschi B, Vernole P, Joenje H, Nicoletti B, Dallapiccola B. Porfirio B, et al. Hum Genet. 1991 Jan;86(3):256-60. doi: 10.1007/BF00202404. Hum Genet. 1991. PMID: 1997377

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