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Berardino Porfirio
Berardino Porfirio
Unknown affiliation
Verified email at unifi.it
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Cited by
Year
The metabonomic signature of celiac disease
I Bertini, A Calabro, V De Carli, C Luchinat, S Nepi, B Porfirio, D Renzi, ...
Journal of proteome research 8 (1), 170-177, 2009
1962009
Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients
G Vezzoli, A Tanini, L Ferrucci, L Soldati, C Bianchin, F Franceschelli, ...
Journal of the American Society of Nephrology 13 (10), 2517-2523, 2002
1882002
Alkaptonuria, ochronosis, and ochronotic arthropathy
A Mannoni, E Selvi, S Lorenzini, M Giorgi, P Airó, D Cammelli, L Andreotti, ...
Seminars in arthritis and rheumatism 33 (4), 239-248, 2004
1422004
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ...
Human mutation 40 (9), 1557-1578, 2019
1192019
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
C Wallgren-Pettersson, K Pelin, P Hilpelä, K Donner, B Porfirio, ...
Neuromuscular Disorders 9 (8), 564-572, 1999
1081999
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’in Italy
M Nemethova, J Radvanszky, L Kadasi, DB Ascher, DEV Pires, ...
European Journal of Human Genetics 24 (1), 66-72, 2016
1072016
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation
A D’Amico, C Graziano, G Pacileo, S Petrini, KJ Nowak, R Boldrini, ...
Neuromuscular Disorders 16 (9-10), 548-552, 2006
1042006
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
C Bacci, R Sestini, A Provenzano, I Paganini, I Mancini, B Porfirio, ...
Neurogenetics 11, 73-80, 2010
1022010
Human striatal neuroblasts develop and build a striatal-like structure into the brain of Huntington's disease patients after transplantation
P Gallina, M Paganini, L Lombardini, M Mascalchi, B Porfirio, D Gadda, ...
Experimental neurology 222 (1), 30-41, 2010
1012010
Cumulative prognostic value of p53 mutations and bcl‐2 protein expression in head‐and‐neck cancer treated by radiotherapy
O Gallo, I Chiarelli, V Boddi, C Bocciolini, L Bruschini, B Porfirio
International journal of cancer 84 (6), 573-579, 1999
931999
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients
DBV de Bernabé, B Granadino, I Chiarelli, B Porfirio, E Mayatepek, ...
The American Journal of Human Genetics 62 (4), 776-784, 1998
891998
Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes
B Dallapiccola, B Porfirio, V Mokini, G Alimena, G Isacchi, E Gandini
Human genetics 69, 62-65, 1985
831985
Immunohistochemical vs Molecular Biology Methods: Complementary Techniques for Effective Screening of p53 Alterations in Head and Neck Cancer
A Calzolari, I Chiarelli, S Bianchi, L Messerini, O Gallo, B Porfirio, ...
American journal of clinical pathology 107 (1), 7-11, 1997
571997
Common fragile sites: their prevalence in subjects with constitutional and acquired chromosomal instability
B Tedeschi, B Porfirio, P Vernole, D Caporossi, B Dallapiccola, B Nicoletti, ...
American journal of medical genetics 27 (2), 471-482, 1987
571987
Characterization of the cancer spectrum in men with germline BRCA1 and BRCA2 pathogenic variants: results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA)
V Silvestri, G Leslie, DR Barnes, BA Agnarsson, K Aittomäki, E Alducci, ...
JAMA oncology 6 (8), 1218-1230, 2020
552020
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency
I Paganini, R Sestini, GL Capone, AL Putignano, E Contini, I Giotti, ...
Clinical Genetics 92 (6), 664-668, 2017
462017
Mutagenic response of Fanconi's anemia cells from a defined complementation group after treatment with photoactivated bifunctional psoralens
D Papadopoulo, B Porfirio, E Moustacchi
Cancer research 50 (11), 3289-3294, 1990
451990
Glaucoma in patients with shunt-treated normal pressure hydrocephalus
P Gallina, A Savastano, E Becattini, S Orlandini, A Scollato, S Rizzo, ...
Journal of Neurosurgery 129 (4), 1078-1084, 2017
432017
Fetal striatal grafting slows motor and cognitive decline of Huntington's disease
M Paganini, A Biggeri, AM Romoli, C Mechi, E Ghelli, V Berti, S Pradella, ...
Journal of Neurology, Neurosurgery & Psychiatry 85 (9), 974-981, 2014
422014
Bcl-2 overexpression and smoking history in head and neck cancer
O Gallo, S Bianchi, B Porfirio
JNCI: Journal of the National Cancer Institute 87 (13), 1024-1025, 1995
401995
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