PORFIRIO, BERARDINO

PORFIRIO, BERARDINO  

Scienze Biomediche, Sperimentali e Cliniche 'Mario Serio'  

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10 novel HGD mutations identified in “black bone disease” patients 2014 A. Zatkova; M. Nemethova; J. Radvanszky; R. Aquaron; B. Porfirio; A. Santucci; S. Sestini; G. Biolcati; F. Sorge; C. Aurizi; C. Marques Lourenço; K. Ramadevi; L. Ranganath; J. Rovensky; R. Imrich; L. Kadasi
[Effects of oxidants and antioxidants on chromosome breaks in Fanconi's anemia] 1983 B. Porfirio; B. Dallapiccola; V. Mokini; G. Alimena; G. Isacchi; F. Mandelli; E. Gandini
[Spontaneous regression of lung metastases from renal cell carcinoma: the importance of immunogenetic factors and a review of the literature] 2008 A Crisci; I Corsale; F Abrami; L Politi; M Andreani; S Borgianni; D Barale; B Porfirio
A Comment on the “Progression of Normal-tension Glaucoma After Ventriculoperitoneal Shunt to Decrease Cerebrospinal Fluid Pressure”. J Glaucoma. 2016;25:e50–e52 2016 Gallina, Pasquale; Savastano, Alfonso; Rizzo, Stanislao; Nicola Di Lorenzo, ; Porfirio, Berardino
A Comment on “Juvenile-onset Normal Tension Glaucoma From Chronic, Recurrent Low Cerebrospinal Fluid Pressure.” J Glaucoma. 2016;25: e738–e740 2017 Gallina, Pasquale; Savastano, Alfonso; Becattini, Eleonora; Orlandini, Simone; Rizzo, Stanislao; Porfirio, Berardino
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria 2016 Porfirio, Berardino; Sestini, Roberta; Gorelli, Greta; Cordovana, Miriam; Mannoni, Alessandro; Usher, Jeanette L.; Introne, Wendy J.; Gahl, William A.; Vilboux, Thierry
A graphic representation of the haplotype distribution from the Tuscan region bone marrow donor registry 2002 Fossombroni V; Fantoni D; Martini A; Pradella F; Rombolà G; Porfirio B
A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. 1984 B. Dallapiccola; G. Ferranti; A. Giannotti; G. Novelli; L. Pasquini; B. Porfirio
A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing. 1998 CHIARELLI I.; B. PORFIRIO; MATTIUZ P.L.; SERI M.; CAROLI F.; CELLI I.; ROMEO G.; VOLORIO S.; ZOLLO M.
A mutant actin (Lys336Glu) in a patient with nemaline myopathy and hypertrophic cardiomyopathy 2005 E.Bertini; B.Porfirio; C.Graziano; S.Petrini; AD.Amico; A.Tessa; G.Pacileo; C.Sewry; JJ.Feng; S.Marston
A new and simple method for HLA-B*5701 screening before abacavir treatment 2010 K.Bortilozzo; C.Boschetto; K.Hajman; L.Cesaro; S.Mason; M.Baroncelli; R.Sestini; B.Porfirio
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency 2017 Paganini, I.; Sestini, R.; Capone, G. L.; Putignano, A. L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A.; Barilaro, A.; Porfirio, B.; Papi, L.
A systematic appraisal of the MHC gene variation associated with either autism or schizophrenia 2017 B. Porfirio
Accuracy and safety of 1-day external lumbar drainage of CSF for shunt selection in patients with idiopathic normal pressure hydrocephalus 2018 Pasquale Gallina, Giancarlo Lastrucci, Saverio Caini, Nicola Di Lorenzo, Berardino Porfirio, Antonio Scollato
Alkaptonuria 2007 B. PORFIRIO
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 2000 PORFIRIO B; CHIARELLI I; GRAZIANO C; MANNONI A; MORRONE A; E. ZAMMARCHI; DE BERNABE' DB; DE CORDOBA S R
ALKAPTONURIA, OCHRONOSIS, AND OCHRONOTIC ARTHROPATHY 2004 A. Mannoni; E. Selvi; S. Lorenzini; M. Giorgi; P. Airò; D. Cammelli; L. Andreotti; R. Marcolongo; B. Porfirio
ALPHA-ACTIN GENE MUTATIONS AND POLYMORPHISMS IN ITALIAN PATIENTS WITH NEMALINE MYOPATHY. 2004 C. Graziano; E. Bertini; C. Minetti; B. Porfirio
Anatomical remodelling of human striatum after neural transplantation in Huntington's disease 2011 P. Gallina; M. Paganini; L. Lombardini; A. Ginestroni; M. Marini; A.M. Romoli; E. Ghelli; C. Mechi; E. Sarchielli; M. Coppini; B. Mazzanti; B. Porfirio; L. Bordi; V. Berti; A. Di Rita; M. Mascalchi; G.B. Vannelli; N. Di Lorenzo
Aqueductal CSF stroke volume measurements may drive management of shunted idiopathic normal pressure hydrocephalus patients 2021 Scollato A.; Caini S.; Angelini L.; Lastrucci G.; Di Lorenzo N.; Porfirio B.; Gallina P.