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List of works by Berardino Porfirio

A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing

scientific article published on 01 June 1998

Bcl-2 overexpression and smoking history in head and neck cancer

scientific article published on 01 July 1995

Chromosome breakage induced by bleomycin in an ataxia telangiectasia lymphoblastoid line: correlation with fragile sites and Epstein-Barr virus DNA localization

scientific article published in January 1989

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

scientific article published on 01 December 1999

Common fragile sites: Their prevalence in subjects with constitutional and acquired chromosomal instability

scientific article published on 01 June 1987

Cumulative prognostic value of p53 mutations and bcl-2 protein expression in head-and-neck cancer treated by radiotherapy.

scientific article

Cytogenetic effects of 1-p-(3-methyltriazeno)benzoic acid potassium salt on human lymphocytes in vitro

scientific article published on 01 November 1987

De novoα-actin mutations in monozygotic twins

scientific article published on 01 July 2005

Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes

scientific article published on 01 January 1985

Epstein-Barr virus infection and P53 expression in HIV-related oral large B cell lymphoma.

scientific article published in August 1999

Expression of aphidicolin-induced fragile sites in lymphocytes of patients with breast cancer

scientific article published on 01 June 1993

Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes

scientific article published on 01 January 1983

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

scientific article published on 01 September 2006

Fetal striatal grafting slows motor and cognitive decline of Huntington's disease

scientific article

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

scientific article published on 20 June 2008

Genetic STRs variation in a large population from Tuscany (Italy)

article

Genotype-related fingerprints from HLA-DPB1 exon 2 low-stringency PCR

scientific article published on 01 December 1996

HLA-B44 subtypes and the chance of finding HLA compatible donor/recipient pairs for bone marrow transplantation: a haplotype study of 303 Italian families

scientific article published on 01 December 1997

High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation

scientific article published on 25 September 2013

Human striatal neuroblasts develop and build a striatal-like structure into the brain of Huntington's disease patients after transplantation

scientific article published on 21 December 2009

Hypersensitivity of lymphoblastoid lines derived from ataxia telangiectasia patients to the induction of chromosomal aberrations by etoposide (VP-16).

scientific article published on December 1993

Influence of Calcium-Sensing Receptor Gene on Urinary Calcium Excretion in Stone-Forming Patients

article

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

scientific article published on April 1998

Patients with different lung cancers show normal expression of fra(3)(p14.2) in aphidicolin-treated lymphocyte cultures

scientific article

Radiation-induced cutaneous carcinoma of the head and neck: is there an early role for p53 mutations?

scientific article

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.

scientific article

Shared-epitope HLA-DRB1 alleles and sex ratio in Italian patients with rheumatoid arthritis

scientific article published on 01 January 2004

Sister-chromatid exchanges in human lymphocytes exposed to 1-p-(3-methyltriazeno)benzoic acid potassium salt

scientific article published on 01 July 1988

Specific sites for EBV association in the Namalwa Burkitt lymphoma cell line and in a lymphoblastoid line transformed in vitro with EBV.

scientific article published in January 1988

Structural chromosomal rearrangements in HpaII-treated human lymphocytes

scientific article published in May 1991

Tag SNPs of the ancestral haplotype 57.1 do not substitute HLA-B*57:01 typing for eligibility to abacavir treatment in the Italian population

scientific article published on 01 February 2012

The conundrum of HLA-DRB1*14:01/*14:54 and HLA-DRB3*02:01/*02:02 mismatches in unrelated hematopoietic SCT

scientific article published on 25 October 2010

The distribution of MspI-induced breaks in human lymphocyte chromosomes and its relationship to common fragile sites

scientific article published on 01 August 1989

The effect of aphidicolin on Fanconi's anemia lymphocyte chromosomes

scientific article published on 01 December 1985

The metabonomic signature of celiac disease

scientific article published in January 2009

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

scientific article published on 25 March 2015

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