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  1. Book: Clinical genomics

    Murray, Michael F.

    practical applications in adult patient care

    2014  

    Author's details ed. Michael F. Murray
    Language English
    Size XXX, 928 S. : Ill., graph. Darst.
    Edition 1. ed.
    Publisher McGraw-Hill Education
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT018103469
    ISBN 978-0-07-162244-8 ; 0-07-162244-6
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2013 A 4101 available for loan (reading room) Lesesaal EG

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  2. Article: Enabling Diagnostic Resulting as a New Category of Secondary Genomic Findings.

    Murray, Michael F

    Journal of personalized medicine

    2022  Volume 12, Issue 2

    Abstract: Over the past decade, the secondary analysis of existing DNA datasets for clinical resulting has become an established practice. However, this established practice is typically limited to only one category of secondary genomic findings, the ... ...

    Abstract Over the past decade, the secondary analysis of existing DNA datasets for clinical resulting has become an established practice. However, this established practice is typically limited to only one category of secondary genomic findings, the identification of "disease risk". Diagnostic resulting has been left out of secondary genomic findings. In medical practice, diagnostic resulting is triggered when a test is ordered for a patient based on a recognizable clinical indication for evaluation; most genetic and genomic testing is carried out in support of diagnostic evaluations. The secondary analysis of existing DNA data has the potential to cost less and have more rapid turnaround times for
    Language English
    Publishing date 2022-01-26
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662248-8
    ISSN 2075-4426
    ISSN 2075-4426
    DOI 10.3390/jpm12020158
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Book ; Online ; E-Book: Clinical genomics : practical applications in adult patient care

    Murray, Michael F. / Babyatsky, Mark W. / Stewart, Douglas R. / Murray, Michael F / Alkuraya, Fowzan S. / Giovanni, Monica A.

    2014  

    Abstract: Convert the latest genomic data to the most effective patient management and treatment approaches Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive ... ...

    Abstract Convert the latest genomic data to the most effective patient management and treatment approaches Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive textbook and practical guide to the use of this information across a broad spectrum of adult diseases - from individual differences in drug responses, cardiac and cancer risks to Alzheimer's and other neurological and psychiatric disorders. While traditional textbooks on medical genetics focus on classic Mendelian disorders, Clinical Genomics discusses the everyday application of genetic assessment and the diagnostic, therapeutic, and preventive implications to the most common adult diseases that healthcare providers encounter. Covering approximately 200 conditions, it is a true clinical text for use across all of internal medicine. Coverage of each condition is presented in a consistent, clinically relevant manner and includes: Key PointsDiagnostic Criteria and Clinical CharacteristicsScreening and C ounselingManagement and TreatmentMolecular Genetics and Molecular MechanismSupplementary Information More than ten valuable appendices, include Genetic Privacy; Race, Ancestry, and Genetics; Personalized Medicine in Clinical Practice; Clinical Interpretation of Genomic Data; and Genetic Risk Profiling in the Genomics Era. Clinical Genomics is essential for internists, primary care physicians, and other healthcare providers who wish to increase their knowledge of the gene-and-protein level care of patients in a clinical setting.
    MeSH term(s) Genetics ; Computational Biology ; Medicine ; Health Occupations ; Biology ; Biological Science Disciplines ; Disciplines and Occupations ; Natural Science Disciplines ; Clinical Medicine ; Genomics
    Keywords Genomics ; Medical genetics ; Biology ; Health & Biological Sciences ; Genetics
    Subject code 572.8/6
    Language English
    Size 1 online resource (959 pages)
    Edition 1st ed.
    Publisher McGraw Hill
    Publishing place New York
    Document type Book ; Online ; E-Book
    Note English ; Bibliographic Level Mode of Issuance: Monograph
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    ISBN 0-07-162244-6 ; 978-0-07-162244-8
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  4. Article ; Online: The Path to Routine Genomic Screening in Health Care.

    Murray, Michael F

    Annals of internal medicine

    2018  Volume 169, Issue 6, Page(s) 407–408

    MeSH term(s) Genomics/trends ; Humans ; Mass Screening/methods ; Mass Screening/trends ; Sequence Analysis, DNA/trends
    Language English
    Publishing date 2018-07-31
    Publishing country United States
    Document type Journal Article
    ZDB-ID 336-0
    ISSN 1539-3704 ; 0003-4819
    ISSN (online) 1539-3704
    ISSN 0003-4819
    DOI 10.7326/M18-1722
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ua VI Zs.178/2: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Can We Manage Presymptomatic TTR V142I Related Risk?

    Murray, Michael F / Miller, Edward J

    JACC. Heart failure

    2021  Volume 10, Issue 2, Page(s) 139–141

    MeSH term(s) Adult ; Amyloid Neuropathies, Familial ; Heart ; Heart Failure ; Humans ; Prealbumin ; Ventricular Remodeling
    Chemical Substances Prealbumin
    Language English
    Publishing date 2021-12-08
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 2705621-1
    ISSN 2213-1787 ; 2213-1779
    ISSN (online) 2213-1787
    ISSN 2213-1779
    DOI 10.1016/j.jchf.2021.10.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Bringing monogenic disease screening to the clinic.

    Murray, Michael F / Giovanni, Monica A

    Nature medicine

    2020  Volume 26, Issue 8, Page(s) 1172–1174

    MeSH term(s) DNA/genetics ; DNA/isolation & purification ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/genetics ; Genetic Testing/trends ; Humans ; Mutation/genetics ; Risk Factors
    Chemical Substances DNA (9007-49-2)
    Keywords covid19
    Language English
    Publishing date 2020-07-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1220066-9
    ISSN 1546-170X ; 1078-8956
    ISSN (online) 1546-170X
    ISSN 1078-8956
    DOI 10.1038/s41591-020-1017-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4212: 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)
    Zs.MG 39: Show issues

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  7. Article ; Online: Parental DNA sequence is critical family history in clinical genomics.

    Murray, Michael F

    Genetics in medicine : official journal of the American College of Medical Genetics

    2016  Volume 18, Issue 7, Page(s) 675–677

    MeSH term(s) Base Sequence ; Genomics ; Humans ; Medical History Taking ; Parents
    Language English
    Publishing date 2016-01-14
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2015.177
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: 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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  8. Article ; Online: Genomics: Prediction, Prevention, Priorities, and Punnett.

    Murray, Michael F

    Annals of internal medicine

    2016  Volume 164, Issue 3, Page(s) 197–198

    MeSH term(s) Alzheimer Disease/genetics ; Coronary Artery Disease/genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Risk Assessment
    Language English
    Publishing date 2016-02-02
    Publishing country United States
    Document type Comment ; Editorial
    ZDB-ID 336-0
    ISSN 1539-3704 ; 0003-4819
    ISSN (online) 1539-3704
    ISSN 0003-4819
    DOI 10.7326/M15-2993
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ua VI Zs.178/2: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
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  9. Article ; Online: Addressing the routine failure to clinically identify monogenic cases of common disease.

    Murray, Michael F / Khoury, Muin J / Abul-Husn, Noura S

    Genome medicine

    2022  Volume 14, Issue 1, Page(s) 60

    Abstract: Changes in medical practice are needed to improve the diagnosis of monogenic forms of selected common diseases. This article seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical ... ...

    Abstract Changes in medical practice are needed to improve the diagnosis of monogenic forms of selected common diseases. This article seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical management of patients with specific monogenic forms of disease diverges from standard management and has evidence for improved outcomes.We review evidence from genomic screening of large patient cohorts, which has confirmed that important monogenic case identification failures are commonplace in routine clinical care. These case identification failures constitute diagnostic misattributions, where the care of individuals with monogenic disease defaults to the treatment plan offered to those with polygenic or non-genetic forms of the disease.The number of identifiable and actionable monogenic forms of common diseases is increasing with time. Here, we provide six examples of common diseases for which universal genetic test implementation would drive improved care. We examine the evidence to support genetic testing for common diseases, and discuss barriers to widespread implementation. Finally, we propose recommendations for changes to genetic testing and care delivery aimed at reducing diagnostic misattributions, to serve as a starting point for further evaluation and development of evidence-based guidelines for implementation.
    MeSH term(s) Disease/genetics ; Genetic Testing ; Humans ; Missed Diagnosis
    Language English
    Publishing date 2022-06-07
    Publishing country England
    Document type Letter ; Review
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-022-01062-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Your DNA is not your diagnosis: getting diagnoses right following secondary genomic findings.

    Murray, Michael F

    Genetics in medicine : official journal of the American College of Medical Genetics

    2015  Volume 18, Issue 8, Page(s) 765–767

    MeSH term(s) DNA/analysis ; DNA Mutational Analysis/psychology ; DNA Mutational Analysis/statistics & numerical data ; Diagnosis ; Disease/genetics ; Genetic Testing/statistics & numerical data ; Humans ; Incidental Findings ; Mutation/physiology
    Chemical Substances DNA (9007-49-2)
    Language English
    Publishing date 2015-10-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2015.134
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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