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  1. Book ; Conference proceedings: 6th European Cytogenetics Conference

    Schinzel, Albert

    (6th ECC)

    (Chromosome research ; 15, Suppl. 1)

    2007  

    Event/congress European Cytogenetics Conference (6, 2007, Istanbul)
    Author's details ed. by: A. Schinzel
    Series title Chromosome research ; 15, Suppl. 1
    Collection
    Language English
    Size XII, 292 S.
    Publisher Springer
    Publishing place Dordrecht
    Publishing country Netherlands
    Document type Book ; Conference proceedings
    HBZ-ID HT015259880
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs A 3873 -15,Suppl.1- not available for loan Zeitschriften-Lesesaal

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  2. Book: Human cytogenetics database / <3>

    Schinzel, Albert

    1994  

    Collection Human cytogenetics database
    Language English
    Size 1 Diskette ; 9 cm
    Edition Version 1.0
    Publisher Oxford Univ. Press
    Publishing place Oxford u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT011152064
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1999 MO 182 -2- order for loan Magazin

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  3. Book: Human cytogenetics database / <2>

    Schinzel, Albert

    1994  

    Collection Human cytogenetics database
    Language English
    Size 1 Diskette ; 9 cm
    Edition Version 1.0
    Publisher Oxford Univ. Press
    Publishing place Oxford u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT011152054
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1999 MO 182 -1- order for loan Magazin

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Book: Human cytogenetics database / <1>

    Schinzel, Albert

    (Oxford medical databases)

    1994  

    Series title Oxford medical databases
    Human cytogenetics database
    Collection Human cytogenetics database
    Language English
    Size VIII, 78 S.
    Publisher Oxford Univ. Press
    Publishing place Oxford u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT011152046
    ISBN 0-19-268208-3 ; 978-0-19-268208-6
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1999 A 7016 order for loan Magazin

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  5. Book: Catalogue of unbalanced chromosome aberrations in man

    Schinzel, Albert

    2001  

    Author's details Albert Schinzel
    Keywords Chromosome Abnormalities / catalogs ; Chromosomenaberration
    Subject Chromosomenmutation ; Strukturelle Chromosomenanomalie ; Chromosom ; Chromosomale Aberration
    Language English
    Size XVII, 966 S. : Ill., graph. Darst., 24 cm
    Edition 2., rev. and expanded ed.
    Publisher de Gruyter
    Publishing place Berlin u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT013016052
    ISBN 3-11-011607-3 ; 978-3-11-011607-6
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2006 A 6448 order for loan Magazin

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  6. Article ; Online: Genetics and genomics in medicine.

    Schinzel, Albert

    European journal of human genetics : EJHG

    2015  Volume 23, Issue 5, Page(s) 719

    Language English
    Publishing date 2015-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2015.18
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  7. Book: Catalogue of unbalanced chromosome aberrations in man

    Schinzel, Albert

    1983  

    Author's details Albert Schinzel
    Keywords CHROMOSOME ABERRATIONS / catalogs ; Chromosome Abnormalities / catalogs ; Chromosomenaberration
    Subject Chromosomenmutation ; Strukturelle Chromosomenanomalie ; Chromosom ; Chromosomale Aberration
    Size XX, 913 S. : ZAHLR. ILL.
    Publisher de Gruyter
    Publishing place BERLIN ; NEW YORK
    Document type Book
    HBZ-ID HT002549927
    ISBN 3-11-008370-1 ; 978-3-11-008370-5
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1984 A 3547 order for loan Magazin

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  8. Book ; Thesis: Autosomale Chromosomenaberrationen

    Schinzel, Albert

    1979  

    Size 204 S.
    Publishing country Switzerland
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Zürich, Univ., Habil.-Schr., 1979
    Note Aus: Archiv f. Genetik 32 (1979)
    HBZ-ID HT002503050
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    80 E 330 order for loan Magazin

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  9. Article ; Online: Network-based analysis using chromosomal microdeletion syndromes as a model.

    Corrêa, Thiago / Feltes, Bruno César / Schinzel, Albert / Riegel, Mariluce

    American journal of medical genetics. Part C, Seminars in medical genetics

    2021  Volume 187, Issue 3, Page(s) 337–348

    Abstract: Microdeletion syndromes (MSs) are a heterogeneous group of genetic diseases that can virtually affect all functions and organs in humans. Although systems biology approaches integrating multiomics and database information into biological networks have ... ...

    Abstract Microdeletion syndromes (MSs) are a heterogeneous group of genetic diseases that can virtually affect all functions and organs in humans. Although systems biology approaches integrating multiomics and database information into biological networks have expanded our knowledge of genetic disorders, cytogenomic network-based analysis has rarely been applied to study MSs. In this study, we analyzed data of 28 MSs, using network-based approaches, to investigate the associations between the critical chromosome regions and the respective underlying biological network systems. We identified MSs-associated proteins that were organized in a network of linked modules within the human interactome. Certain MSs formed highly interlinked self-contained disease modules. Furthermore, we observed disease modules involving proteins from other disease groups in the MSs interactome. Moreover, analysis of integrated data from 564 genes located in known chromosomal critical regions, including those contributing to topological parameters, shared pathways, and gene-disease associations, indicated that complex biological systems and cellular networks may underlie many genotype to phenotype associations in MSs. In conclusion, we used a network-based analysis to provide resources that may contribute to better understanding of the molecular pathways involved in MSs.
    MeSH term(s) Chromosomes ; Gene Regulatory Networks ; Genotype ; Humans ; Phenotype ; Syndrome
    Language English
    Publishing date 2021-03-22
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31900
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/C: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  10. Article: Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications

    Corrêa, Thiago / Santos-Rebouças, Cíntia B / Mayndra, Maytza / Schinzel, Albert / Riegel, Mariluce

    Genes. 2021 Apr. 23, v. 12, no. 5

    2021  

    Abstract: Chromosomal duplications are associated with a large group of human diseases that arise mainly from dosage imbalance of genes within the rearrangements. Phenotypes range widely but are often associated with global development delay, intellectual ... ...

    Abstract Chromosomal duplications are associated with a large group of human diseases that arise mainly from dosage imbalance of genes within the rearrangements. Phenotypes range widely but are often associated with global development delay, intellectual disability, autism spectrum disorders, and multiple congenital abnormalities. How different contiguous genes from a duplicated genomic region interact and dynamically affect the expression of each other remains unclear in most cases. Here, we report a genomic comparative delineation of genes located in duplicated chromosomal regions 8q24.13q24.3, 18p11.32p11.21, and Xq22.3q27.2 in three patients followed up at our genetics service who has the intellectual disability (ID) as a common phenotype. We integrated several genomic data levels by identification of gene content within the duplications, protein-protein interactions, and functional analysis on specific tissues. We found functional relationships among genes from three different duplicated chromosomal regions, reflecting interactions of protein-coding genes and their involvement in common cellular subnetworks. Furthermore, the sharing of common significant biological processes associated with ID has been demonstrated between proteins from the different chromosomal regions. Finally, we elaborated a shared model of pathways directly or indirectly related to the central nervous system (CNS), which could perturb cognitive function and lead to ID in the three duplication conditions.
    Keywords autism ; central nervous system ; chromosomes ; cognition ; genes ; genomics ; humans ; models ; phenotype
    Language English
    Dates of publication 2021-0423
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    Note NAL-AP-2-clean
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12050632
    Database NAL-Catalogue (AGRICOLA)

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