Search Results - "Brancati, C."

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    Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis by CALABRO, V, MASON, P. J, FILOSA, S, CIVITELLI, D, CITTADELLA, R, TAGARELLI, A, MARTINI, G, BRANCATI, C, LUZZATTO, L

    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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    Journal Article
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    Severe erythrocyte adenylate kinase deficiency due to homozygous A → G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia by Qualtieri, A., Pedace, V., Bisconte, M. G., Bria, M., Gulino, B., Andreoli, V., Brancati, C.

    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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    Journal Article
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    Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily by CITTADELLA, R., CIVITELLI, D., MANNA, I., AZZIA, N., DI CATALDO, A., SCHILIROA, G., BRANCATI, C.

    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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    Journal Article Conference Proceeding
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    G6PD haplotypes spanning Xq28 from F8C to red/green color vision by Filosa, S, Calabrò, V, Lania, G, Vulliamy, T J, Brancati, C, Tagarelli, A, Luzzatto, L, Martini, G

    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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    Journal Article
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    Spectrin Cosenza: a novel β chain variant associated with Sp αI/74 hereditary elliptocytosis by Qualtieri, A., Pasqua, A., Bisconte, M. G., Le Pera, M., Brancati, C.

    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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    Journal Article
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    Morphologic and functional evaluation of the exocrine pancreas in β-thalassemia major by GULLO, L, CORCIONI, E, BRANCATI, C, BRIA, M, PEZZILLI, R, SPROVIERI, G

    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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    Journal Article
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    Delineation of the molecular basis of δ- and normal HbA2 β-thalassemia by MOI, P, PAGLIETTI, E, SANNA, A, BRANCATI, C, TAGARELLI, A, GALANELLO, R, CAO, A, PIRASTU, M

    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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    Journal Article
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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 by Ting, Y L, Naccarato, S, Qualtieri, A, Chidichimo, G, Brancati, C

    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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    Journal Article
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    DYS19, D12S67, and D1S80 Polymorphisms in Population Samples from Southern Italy and Greece by FALCONE, E., SPADAFORA, P., DE LUCA, M., RUFFOLO, R., BRANCATI, C., DE BENEDICTIS, G.

    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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    Journal Article
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    Rapid determination of erythrocyte pyruvate kinase activity by Mosca, A, Tagarelli, A, Paleari, R, Scarpelli, P, Brancati, C

    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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    Journal Article
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    EcoRI-RFLP of the Apo B gene: a study in a sample group from south Italy by De Benedictis, G, Rose, G, Mazzei, R, Leone, O, Crescibene, L, Brancati, C, Carotenuto, L

    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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    Journal Article
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    Analysis of the (CAG)n Repeat at the IT15 Locus in a Population from Calabria (Southern Italy) by LEONE, O., MUGLIA, M., GABRIELE, A.L., ANNESI, G., CONFORTI, F.L., IMBROGNO, E., IMBROGNO, L., BRANCATI, C.

    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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    Journal Article
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    A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene by Annesi, G, Muglia, M, Conforti, F L, Leone, O, Grandinetti, C, Imbrogno, E, Gabriele, A L, Naso, F, Brancati, C

    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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    Journal Article
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    RFLPs of the APOB Gene: Comparative Study between Greeks and Southern Italian Peoples by DE BENEDICTIS, G., LEONE, O., FALCONE, E., ROSE, G., BRANCATI, C., CAROTENUTO, L.

    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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    Journal Article
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    Follow-up study of thyroid function in polytransfused thalassemic patients by Maggiolini, M, De Luca, G, Bria, M, Sisci, D, Aquila, S, Pezzi, V, Lanzino, M, Giorno, A, Tamburrini, O, Della Sala, M, Corcioni, E, Brancati, C, Ando, S

    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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    Journal Article
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    Management of Hypertension in Patients With CKD: Differences Between Primary and Tertiary Care Settings by Minutolo, Roberto, De Nicola, Luca, Zamboli, Pasquale, Chiodini, Paolo, Signoriello, Giuseppe, Toderico, Clemente, Arfè, Gennaro, Boschi, Giuseppe, Brancati, Ciro, Iaccarino, Patrizia, Conte, Giuseppe

    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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    Journal Article
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    Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes by Di Rienzo, A, Novelletto, A, Aliquò, M C, Bianco, I, Tagarelli, A, Brancati, C, Colombo, B, Felicetti, L

    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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    Journal Article