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  1. Book ; Online ; E-Book: Cytogenetics and molecular cytogenetics

    Liehr, Thomas

    (Medical Genomics and Proteomics)

    2023  

    Abstract: Genomic technologies provide the means of diagnosis and management of many human diseases. This book comprehensive summary of applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics combines ...

    Author's details edited by Thomas Liehr
    Series title Medical Genomics and Proteomics
    Abstract "Genomic technologies provide the means of diagnosis and management of many human diseases. This book comprehensive summary of applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics combines state-of-the-art knowledge and practical expertise from leading researchers and clinicians"--
    Keywords Cytogenetics
    Subject code 572.8
    Language English
    Size 1 online resource (383 pages)
    Publisher CRC Press
    Publishing place Boca Raton, Florida ; Abingdon, Oxon
    Document type Book ; Online ; E-Book
    Note Includes index.
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    ISBN 1-00-322365-6 ; 1-003-22365-6 ; 1-000-80036-9 ; 1-000-80040-7 ; 9781032121628 ; 978-1-00-322365-8 ; 978-1-003-22365-8 ; 978-1-000-80036-4 ; 978-1-000-80040-1 ; 1032121629
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Book ; Online ; E-Book: Cytogenomics

    Liehr, Thomas

    2021  

    Author's details edited by Thomas Liehr
    Keywords Electronic books
    Language English
    Size 1 Online-Ressoure (xvii, 409 Seiten), Illustrationen, Diagramme
    Publisher Elsevier Academic Press
    Publishing place London
    Publishing country Great Britain
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT020948365
    ISBN 978-0-12-823580-5 ; 9780128235799 ; 0-12-823580-2 ; 0128235799
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  3. Article: Editorial: Co-occurrence of numerical and structural aberration-small supernumerary marker chromosomes and B-chromosomes.

    Liehr, Thomas

    Frontiers in genetics

    2024  Volume 15, Page(s) 1408674

    Language English
    Publishing date 2024-04-17
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2024.1408674
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Book: Uniparental disomy (UPD) in clinical genetics

    Liehr, Thomas

    a guide for clinicians and patients

    2014  

    Author's details Thomas Liehr
    Keywords Chromosomal aberration ; Chromosomal disorder ; Rare genetic disorders ; Genotype-phenotype correlation ; Genetic counseling ; Uniparentale Disomie ; Molekulargenetik ; Cytogenetik ; Chromosomenanomalie ; Genetische Beratung
    Subject Humangenetische Beratung ; Prädiktive genetische Beratung ; Prädiktive genetische Diagnostik ; Chromosom ; Zellgenetik ; Zytogenetik ; Molekulare Genetik ; Biochemische Genetik ; UPD
    Language English
    Size XVIII, 192 S. : Ill., graph. Darst., 235 mm x 155 mm
    Publisher Springer
    Publishing place Heidelberg u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT018364815
    ISBN 978-3-642-55287-8 ; 3-642-55287-0 ; 9783642552885 ; 3642552889
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2014 A 3331 available for loan (reading room) Lesesaal EG

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  5. Book: Benign and pathological chromosomal imbalances

    Liehr, Thomas

    microscopic and submicroscopic Copy Number Variations (CNVs) in genetics and counseling

    2014  

    Author's details Thomas Liehr
    Keywords Human chromosome abnormalities ; Human chromosome abnormalities/Diagnosis
    Subject code 616.042
    Language English
    Size XIX, 199 S.,[3] Bl. : Ill., graph. Darst., 23 cm
    Publisher Elsevier
    Publishing place Amsterdam u.a.
    Publishing country Netherlands
    Document type Book
    HBZ-ID HT017904340
    ISBN 978-0-12-404631-3 ; 0-12-404631-2
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2013 A 3710 available for loan (reading room) Lesesaal EG

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  6. Book: Fluorescence in situ hybridization (FISH)

    Liehr, Thomas

    application guide

    (Springer protocols)

    2009  

    Author's details Thomas Liehr ed
    Series title Springer protocols
    Keywords Cytogenetik ; Molekulargenetik ; Fluoreszenz-in-situ-Hybridisierung
    Subject FISH ; Molekulare Genetik ; Biochemische Genetik ; Zellgenetik ; Zytogenetik
    Language English
    Size XVIII, 451 S. : Ill., graph. Darst.
    Publisher Springer
    Publishing place Berlin u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT015696268
    ISBN 978-3-540-70580-2 ; 3-540-70580-5
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2009 A 1947 order for loan Magazin

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  7. Article: False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?

    Liehr, Thomas

    Molecular cytogenetics

    2022  Volume 15, Issue 1, Page(s) 36

    Abstract: Background: Non-invasive prenatal testing (NIPT) has had an incomparable triumph in prenatal diagnostics in the last decade. Over 1400 research articles have been published, predominantly praising the advantages of this test.: Methods: The present ... ...

    Abstract Background: Non-invasive prenatal testing (NIPT) has had an incomparable triumph in prenatal diagnostics in the last decade. Over 1400 research articles have been published, predominantly praising the advantages of this test.
    Methods: The present study identified among the 1400 papers 24 original and one review paper, which were suited to re-evaluate the efficacy of > 750,000 published NIPT-results. Special attention was given to false-positive and false-negative result-rates. Those were discussed under different aspects-mainly from a patient-perspective.
    Results: A 27: 1 rate of false-positive compared to false-negative NIPT results was found. Besides, according to all reported, real-positive, chromosomally aberrant NIPT cases, 90% of those would have been aborted spontaneously before birth. These findings are here discussed under aspects like (i) How efficient is NIPT compared to first trimester screening? (ii) What are the differences in expectations towards NIPT from specialists and the public? and (iii) There should also be children born suffering from not by NIPT tested chromosomal aberrations; why are those never reported in all available NIPT studies?
    Conclusions: Even though much research has been published on NIPT, unbiased figures concerning NIPT and first trimester screening efficacy are yet not available. While false positive rates of different NIPT tests maybe halfway accurate, reported false-negative rates are most likely too low. The latter is as NIPT-cases with negative results for tested conditions are yet not in detail followed up for cases with other genetic or teratogenic caused disorders. This promotes an image in public, that NIPT is suited to replace all invasive tests, and also to solve the problem of inborn errors in humans, if not now then in near future. Overall, it is worth discussing the usefulness of NIPT in practical clinical application. Particularly, asking for unbiased figures concerning the efficacy of first trimester-screening compared to NIPT, and for really comprehensive data on false-positive and false-negative NIPT results.
    Language English
    Publishing date 2022-08-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 2420849-8
    ISSN 1755-8166
    ISSN 1755-8166
    DOI 10.1186/s13039-022-00612-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Uniparental disomy is a chromosomic disorder in the first place.

    Liehr, Thomas

    Molecular cytogenetics

    2022  Volume 15, Issue 1, Page(s) 5

    Abstract: Background: Uniparental disomy (UPD) is well-known to be closely intermingled with imprinting disorders. Besides, UPD can lead to a disease by 'activation' of a recessive gene mutation or due to incomplete (cryptic) trisomic rescue. Corresponding to all ...

    Abstract Background: Uniparental disomy (UPD) is well-known to be closely intermingled with imprinting disorders. Besides, UPD can lead to a disease by 'activation' of a recessive gene mutation or due to incomplete (cryptic) trisomic rescue. Corresponding to all common theories how UPD forms, it takes place as a consequence of a "chromosomic problem", like an aneuploidy or a chromosomal rearrangement. Nonetheless, UPD is rarely considered as a cytogenetic, but most often as a molecular genetic problem.
    Results: Here a review on the ~ 4900 published UPD-cases is provided, and even though being biased as discussed in the paper, the following insights have been given from that analysis: (1) the rate of maternal to paternal UPD is 2~3 to 1; (2) at most only ~ 0.03% of the available UPD cases are grasped scientifically, yet; (3) frequencies of single whole-chromosome UPDs are non-random, with UPD(16) and UPD(15) being most frequent in clinically healthy and diseased people, respectively; (4) there is a direct correlation of UPD frequency and known frequent first trimester trisomies, except for chromosomes 1, 5, 11 and 18 (which can be explained); (5) heterodisomy is under- and UPD-mosaicism is over-represented in recent reports; and (6) cytogenetics is not considered enough when a UPD is identified.
    Conclusions: As UPD is diagnosed using molecular genetic approaches, and thus by specialists considering chromosomes at best as a whim of nature, most UPD reports lack the chromosomal aspect. Here it is affirmed and substantiated by corresponding data that UPD is a chromosomic disorder in the first place and cytogenetic analyses is indicated in each diagnosed UPD-case.
    Language English
    Publishing date 2022-02-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2420849-8
    ISSN 1755-8166
    ISSN 1755-8166
    DOI 10.1186/s13039-022-00585-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Chromosomal Heteromorphisms and Cancer Susceptibility Revisited.

    Liehr, Thomas

    Cells

    2022  Volume 11, Issue 20

    Abstract: Chromosomal heteromorphisms (CHs) are a part of genetic variation in man. The past literature largely posited whether CHs could be correlated with the development of malignancies. While this possibility seemed closed by end of the 1990s, recent data have ...

    Abstract Chromosomal heteromorphisms (CHs) are a part of genetic variation in man. The past literature largely posited whether CHs could be correlated with the development of malignancies. While this possibility seemed closed by end of the 1990s, recent data have raised the question again on the potential influences of repetitive DNA elements, the main components of CHs, in cancer susceptibility. Such new evidence for a potential role of CHs in cancer can be found in the following observations: (i) amplification and/or epigenetic alterations of CHs are routinely reported in tumors; (ii) the expression of CH-derived RNA in embryonal and other cells under stress, including cancer cells; (iii) the expression of parts of CH-DNA as long noncoding RNAs; plus (iv) theories that suggest a possible application of the "two-hit model" for euchromatic copy number variants (CNVs). Herein, these points are discussed in detail, which leads to the conclusion that CHs are by far not given sufficient consideration in routine cytogenetic analysis, e.g., leukemias and lymphomas, and need more attention in future research settings including solid tumors. This heightened focus may only be achieved by approaches other than standard sequencing or chromosomal microarrays, as these techniques are at a minimum impaired in their ability to detect, if not blind to, (highly) repetitive DNA sequences.
    MeSH term(s) Humans ; Repetitive Sequences, Nucleic Acid ; DNA ; DNA Copy Number Variations/genetics ; Neoplasms/genetics ; RNA
    Chemical Substances DNA (9007-49-2) ; RNA (63231-63-0)
    Language English
    Publishing date 2022-10-15
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells11203239
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Book: Small supernumerary marker chromosomes (sSMC)

    Liehr, Thomas

    a guide for human geneticists and clinicians

    2012  

    Author's details Thomas Liehr
    Keywords Markerchromosom ; Erbkrankheit
    Subject Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten
    Language English
    Size XX, 220 S. : Ill., graph. Darst., 235 mm x 155 mm
    Publisher Springer
    Publishing place Heidelberg
    Publishing country Germany
    Document type Book
    HBZ-ID HT017059677
    ISBN 978-3-642-20765-5 ; 3-642-20765-0
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2011 A 5220 order for loan Magazin

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