Search Results - "Brancati, C."
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Citizens and family doctors facing awareness and management of traditional cardiovascular risk factors: Results from the Global Cardiovascular Risk Reduction Project (Help Your Heart Stay Young Study)
Published in Nutrition, metabolism, and cardiovascular diseases (01-08-2003)“…Abstract The numerous guidelines and multiple approaches to managing cardiovascular risk factors have reduced the number of fatal events but not the incidence…”
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2
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis
Published in American journal of human genetics (01-03-1993)“…We have carried out a systematic study of the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency on a sample of 53 male subjects from…”
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3
Severe erythrocyte adenylate kinase deficiency due to homozygous A → G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia
Published in British journal of haematology (01-12-1997)“…A child of Italian origin with a congenital haemolytic anaemia had spectrophotometrically undetectable erythrocyte adenylate kinase (AK) activity. Her parents…”
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4
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily
Published in Annals of human genetics (01-05-1997)“…In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in south-east Sicily, we have analysed the G6PD gene in 25 unrelated…”
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5
G6PD haplotypes spanning Xq28 from F8C to red/green color vision
Published in Genomics (San Diego, Calif.) (01-07-1993)“…The most telomeric region of the human X chromosome within band Xq28 consists of a gene-rich region of about 3 Mb which contains the genes for coagulation…”
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Spectrin Cosenza: a novel β chain variant associated with Sp αI/74 hereditary elliptocytosis
Published in British journal of haematology (01-05-1997)“…A Calabrian family (Southern Italy) with Sp αI/74 hereditary elliptocytosis (HE) in the heterozygous state was studied. Sp αI/74 HE is associated with…”
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7
Morphologic and functional evaluation of the exocrine pancreas in β-thalassemia major
Published in Pancreas (01-03-1993)“…Thirty-nine consecutive patients with beta-thalassemia major and iron overload were studied by ultrasonography and serum pancreatic enzyme determination to…”
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Delineation of the molecular basis of δ- and normal HbA2 β-thalassemia
Published in Blood (01-08-1988)“…In this study, we used cloning and sequence analysis to define the molecular defect in two delta-thalassemia genes, one associated with reduced output of…”
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In vivo metabolic studies of glucose, ATP and 2,3-DPG in beta-thalassaemia intermedia, heterozygous beta-thalassaemic and normal erythrocytes: 13C and 31P MRS studies
Published in British journal of haematology (01-11-1994)“…13C and 31P magnetic resonance spectroscopy was used to characterize the in vivo kinetics of glucose metabolism and intracellular ATP and 2,3-DPG…”
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DYS19, D12S67, and D1S80 Polymorphisms in Population Samples from Southern Italy and Greece
Published in Human biology (01-10-1995)“…Genotype and allele frequencies of the DYS19, D12S67, and D1S80 highly polymorphic loci were determined in population samples from southern Italy (103…”
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Rapid determination of erythrocyte pyruvate kinase activity
Published in Clinical chemistry (Baltimore, Md.) (01-03-1993)“…We report a new potentiometric method for determining pyruvate kinase (PK). Enzymatic activity is measured by monitoring the change in pH produced in the…”
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12
EcoRI-RFLP of the Apo B gene: a study in a sample group from south Italy
Published in Annals of human genetics (01-05-1991)“…EcoRI restriction analysis at codon 4154 of the Apo B gene was performed in a sample of 90 subjects from southern Italy (sample S), using total blood cell DNA…”
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13
Analysis of the (CAG)n Repeat at the IT15 Locus in a Population from Calabria (Southern Italy)
Published in Human biology (01-10-1997)“…The defect causing Huntington's disease (HD) has recently been discovered as an expanded CAG trinucleotide repeat located at the 5' end of the IT15 gene. This…”
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A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene
Published in Human heredity (01-01-1997)“…Spinocerebellar ataxia type 1 is caused by the expansion of a CAG trinucleotide repeat, located at the 5' end of the gene responsible for the disease (SCA1…”
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RFLPs of the APOB Gene: Comparative Study between Greeks and Southern Italian Peoples
Published in Human biology (01-06-1993)“…Restriction fragment length polymorphisms (RFLPs) at codons 2488 (Xbal), 3611 (Mspl), and 4154 (EcoRl) of the apolipoprotein B gene were investigated in sample…”
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HB Valletta [β87(F3)THR →PRO] DUE to an A→C Substitution at Codon 87 in a Calabrian Family with α-Thalassemia
Published in Hemoglobin (1997)Get full text
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17
Follow-up study of thyroid function in polytransfused thalassemic patients
Published in Endocrine (01-02-1995)“…The aim of our investigation was to evaluate thyroid function by a follow-up study in 45 polytransfused thalassemic patients, since endocrine abnormalities are…”
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18
Management of Hypertension in Patients With CKD: Differences Between Primary and Tertiary Care Settings
Published in American journal of kidney diseases (01-07-2005)“…Background: Although most patients with moderate chronic kidney disease (CKD) are managed exclusively in primary care (PC), no data on blood pressure (BP)…”
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Hb D-Iran [beta 22(B4)Glu-->Gln] in southern Italy
Published in Hemoglobin (01-01-1994)Get more information
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20
Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes
Published in American journal of human genetics (01-11-1986)“…We have investigated the molecular basis for HbH disease in 16 patients from Sardinia, and central and southern Italy. We have shown that HbH disease is…”
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