Search Results - (Author, Cooperation:A. Iolascon)

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  1. 1
    P. A. Northcott ; D. J. Shih ; J. Peacock ; L. Garzia ; A. S. Morrissy ; T. Zichner ; A. M. Stutz ; A. Korshunov ; J. Reimand ; S. E. Schumacher ; R. Beroukhim ; D. W. Ellison ; C. R. Marshall ; A. C. Lionel ; S. Mack ; A. Dubuc ; Y. Yao ; V. Ramaswamy ; B. Luu ; A. Rolider ; F. M. Cavalli ; X. Wang ; M. Remke ; X. Wu ; R. Y. Chiu ; A. Chu ; E. Chuah ; R. D. Corbett ; G. R. Hoad ; S. D. Jackman ; Y. Li ; A. Lo ; K. L. Mungall ; K. M. Nip ; J. Q. Qian ; A. G. Raymond ; N. T. Thiessen ; R. J. Varhol ; I. Birol ; R. A. Moore ; A. J. Mungall ; R. Holt ; D. Kawauchi ; M. F. Roussel ; M. Kool ; D. T. Jones ; H. Witt ; L. A. Fernandez ; A. M. Kenney ; R. J. Wechsler-Reya ; P. Dirks ; T. Aviv ; W. A. Grajkowska ; M. Perek-Polnik ; C. C. Haberler ; O. Delattre ; S. S. Reynaud ; F. F. Doz ; S. S. Pernet-Fattet ; B. K. Cho ; S. K. Kim ; K. C. Wang ; W. Scheurlen ; C. G. Eberhart ; M. Fevre-Montange ; A. Jouvet ; I. F. Pollack ; X. Fan ; K. M. Muraszko ; G. Y. Gillespie ; C. Di Rocco ; L. Massimi ; E. M. Michiels ; N. K. Kloosterhof ; P. J. French ; J. M. Kros ; J. M. Olson ; R. G. Ellenbogen ; K. Zitterbart ; L. Kren ; R. C. Thompson ; M. K. Cooper ; B. Lach ; R. E. McLendon ; D. D. Bigner ; A. Fontebasso ; S. Albrecht ; N. Jabado ; J. C. Lindsey ; S. Bailey ; N. Gupta ; W. A. Weiss ; L. Bognar ; A. Klekner ; T. E. Van Meter ; T. Kumabe ; T. Tominaga ; S. K. Elbabaa ; J. R. Leonard ; J. B. Rubin ; L. M. Liau ; E. G. Van Meir ; M. Fouladi ; H. Nakamura ; G. Cinalli ; M. Garami ; P. Hauser ; A. G. Saad ; A. Iolascon ; S. Jung ; C. G. Carlotti ; R. Vibhakar ; Y. S. Ra ; S. Robinson ; M. Zollo ; C. C. Faria ; J. A. Chan ; M. L. Levy ; P. H. Sorensen ; M. Meyerson ; S. L. Pomeroy ; Y. J. Cho ; G. D. Bader ; U. Tabori ; C. E. Hawkins ; E. Bouffet ; S. W. Scherer ; J. T. Rutka ; D. Malkin ; S. C. Clifford ; S. J. Jones ; J. O. Korbel ; S. M. Pfister ; M. A. Marra ; M. D. Taylor
    Nature Publishing Group (NPG)
    Published 2012
    Staff View
    Publication Date:
    2012-07-27
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Carrier Proteins/genetics ; Cerebellar Neoplasms/*classification/*genetics/metabolism ; Child ; DNA Copy Number Variations/genetics ; Gene Duplication/genetics ; Genes, myc/genetics ; Genome, Human/*genetics ; Genomic Structural Variation/*genetics ; Genomics ; Hedgehog Proteins/metabolism ; Humans ; Medulloblastoma/*classification/*genetics/metabolism ; NF-kappa B/metabolism ; Nerve Tissue Proteins/genetics ; Oncogene Proteins, Fusion/genetics ; Proteins/genetics ; RNA, Long Noncoding ; Signal Transduction ; Transforming Growth Factor beta/metabolism ; Translocation, Genetic/genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    Publication Date:
    2015-11-13
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Acetylation ; Alleles ; Allelic Imbalance ; Binding Sites ; DNA-Binding Proteins/*genetics ; Enhancer Elements, Genetic/*genetics ; Epigenomics ; GATA3 Transcription Factor/metabolism ; Gene Expression Regulation, Neoplastic/genetics ; Genetic Predisposition to Disease/*genetics ; Genome-Wide Association Study ; Genotype ; Histones/chemistry/metabolism ; Humans ; Introns/genetics ; LIM Domain Proteins/*genetics ; Lysine/metabolism ; Neuroblastoma/*genetics ; Organ Specificity ; Polymorphism, Single Nucleotide/*genetics ; Reproducibility of Results ; Transcription Factors/*genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  3. 3
    Staff View
    Publication Date:
    2010-12-03
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Alleles ; Cell Line, Tumor ; Cell Proliferation ; Chromosomes, Human, Pair 11/genetics ; DNA Copy Number Variations/genetics ; DNA-Binding Proteins/*genetics ; Disease Progression ; Europe/ethnology ; Gene Duplication/genetics ; Gene Expression Regulation, Neoplastic/genetics ; Genetic Predisposition to Disease/*genetics ; Genome, Human/genetics ; *Genome-Wide Association Study ; Genomics ; Genotype ; Humans ; LIM Domain Proteins ; Neuroblastoma/*genetics/pathology ; Odds Ratio ; Oncogenes/*genetics ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Survival Rate ; Transcription Factors/*genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  4. 4
    Staff View
    Publication Date:
    2018-07-27
    Publisher:
    American Society of Hematology (ASH)
    Print ISSN:
    0006-4971
    Electronic ISSN:
    1528-0020
    Topics:
    Biology
    Medicine
    Keywords:
    Red Cells, Iron, and Erythropoiesis
    Published by:
    http://www.hematology.org/

    Latest Papers from Table of Contents or Articles in Press
  5. 5
    Staff View
    ISSN:
    0309-1651
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0309-1651(86)90060-3

    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    0309-1651
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0309-1651(90)90970-A

    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    0165-4608
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0165-4608(91)90216-H

    Articles: DFG German National Licenses
  8. 8
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary αI/65 Hereditary elliptocytosis (HE) is due to the duplication of TTG codon 1541 (leucine) of α-spectrin and is associated with a constant haplotype. It was encountered exclusively in African and American Blacks, and in North Africans. We assumed that it diffused from the Benin-Togo area to Northern Africa. We now report two South Italian families with αI/65 HE. The phenotype fully conformed to previous descriptions. The mode of transmission was dominant; however, the manifestations were more pronounced when the common, low expression level αV/41 allele occurred in trans to the αI/65 allele, also conforming to previous records. The mutation underlying αI/65 HE turned out to be, again, the duplication of TTG codon 154 and the associated haplotype was the same as that encountered previously (+-+; XbaI, PvuII, MspI). Thus, the αI/65 allele found in Italy must have been introduced from North Africa across the Sicilian channel and would ultimately have originated from the Benin-Togo area. It would witness the same migratory stream as that followed by the Benin type haemoglobin S allele, which is also present in Southern Italy.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00219183

    Articles: DFG German National Licenses
  9. 9
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Hereditary spherocytosis ; Erythrocyte membrane ; Spectrin
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Recently it has been clearly established that partial deficiency of spectrin (SP) evaluated by radioimmunoassay is a common feature of many different forms of hereditary spherocytosis (HS). In this paper the determination of SP density (spectrin/band 3 ratio) in 46 HS patients and in 50 normal controls is presented. The comparison between the membrane SP density of HS subjects and controls showed a statistically significant difference (P〈0.0005). Moreover no overlap between normal and HS subjects was observed. Membrane spectrin/band 3 ratio has been found related to some clinical features: indeed patients with severe HS showed a smaller SP density than those with milder HS. Our results show that the evaluation of membrane SP density permits a prompt diagnosis of HS and avoids extensive and unnecessary studies for other anaemias.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02073887

    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Glucose-6-phosphate dehydrogenase (G6PD) electrophoretic phenotype was determined in red cells from 979 male subjects born in Naples (Southern Italy). In 0.7% of the cases no activity could be detected in haemolysates, while in 1.3% of the cases G6PD activity was approximately 20% of normal and electrophoretic mobility was altered. Moveover in two subjects a G6PD with altered mobility and normal activity was shown. G6PD was characterized in 10 subjects with variant phenotype. We conclude that the G6PD(-) phenotype in the population of Naples consists of at least six different G6PD variants associated with mild deficiency and at least one, G6PD Mediterranean, associated with severe deficiency.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00293030

    Articles: DFG German National Licenses
  11. 11
    Staff View
    ISSN:
    1573-2665
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary Maple syrup urine disease (MSUD) is an autosomal recessive disease due to deficiency of the branched-chain α-ketoacid dehydrogenase (BCKDH) caused by a large number of mutations. In the present study, DNA from Italian patients and their relatives was examined for three point mutations (Y393N in the E1α gene, T841G and G1031A in the E2 gene) and two deletions (−G at the intron/exon border of exon 8 in the E2 gene and an 11 bp deletion in exon 1 of the E1β gene) using the polymerase chain reaction (PCR) followed by allele-specific oligonucleotide (ASO) hybridization, gene-scanning size analysis of fluorescent-tagged PCR products and/or automated DNA sequence analysis. Our results show that two different mutations account for 7 of the 20 mutant MSUD alleles. Two unrelated affected children, two of their parents and one sibling were carriers for the 11 bp deletion in the E1β gene, one patient and her mother were heterozygous for Y393N in E1α, while T841G, G1031A and the −G deletion in E2 were not detected. This study is the first attempt to characterize at a nucleic acid level MSUD mutations in Italy. Our results indicate that additional defects are present in the Italian population and that, unlike the Mennonites, a number of different MSUD mutations exist in Italians.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00712006

    Articles: DFG German National Licenses