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  1. Book: Genetic skin disorders

    Sybert, Virginia P.

    (Oxford monographs on medical genetics ; 69)

    2017  

    Author's details Virginia P. Sybert, M.D
    Series title Oxford monographs on medical genetics ; 69
    Collection
    Keywords Skin Diseases, Genetic / diagnosis ; Diagnosis, Differential
    Language English
    Size xix, 468 Seiten, Illustrationen
    Edition Third edition
    Publisher Oxford University Press
    Publishing place Oxford
    Publishing country Great Britain
    Document type Book
    Note Includes bibliographical references and index
    HBZ-ID HT019275749
    ISBN 978-0-19-027647-8 ; 0-19-027647-9
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2017 A 543 available for loan (reading room) Lesesaal EG

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  2. Book: Genetic skin disorders

    Sybert, Virginia P.

    (Oxford monographs on medical genetics ; 60)

    2010  

    Author's details Virginia P. Sybert
    Series title Oxford monographs on medical genetics ; 60
    Collection
    Keywords Skin Diseases, Genetic / diagnosis ; Diagnosis, Differential
    Language English
    Size XXI, 762 S. : Ill., graph. Darst., 27 cm
    Edition 2. ed.
    Publisher Oxford Univ. Press
    Publishing place Oxford u.a.
    Publishing country Great Britain
    Document type Book
    Note Previous ed.: 1997. - Formerly CIP Uk
    HBZ-ID HT016499490
    ISBN 978-0-19-539766-6 ; 0-19-539766-5
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2011 A 434 order for loan Magazin

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  3. Book: Genetic skin disorders

    Sybert, Virginia P.

    (Oxford monographs on medical genetics ; 33)

    1997  

    Author's details Virginia P. Sybert
    Series title Oxford monographs on medical genetics ; 33
    Collection
    Keywords Skin Diseases / genetics ; Hautkrankheit ; Erbkrankheit ; Genodermatose
    Subject Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten ; Dermatose ; Haut ; Hauterkrankung ; Hautkrankheiten
    Language English
    Size XX, 675 S. : zahlr. Ill.
    Publisher Oxford Univ. Press
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT008165899
    ISBN 0-19-506218-3 ; 978-0-19-506218-2
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1998 A 1254 order for loan Magazin

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  4. Article ; Online: So You Want to Be in Journals, or What Happens When You Press "Send".

    Sybert, Virginia P

    Pediatric dermatology

    2015  Volume 32, Issue 4, Page(s) 558–561

    MeSH term(s) Child ; Dermatology ; Editorial Policies ; Humans ; Pediatrics ; Periodicals as Topic ; Publishing
    Language English
    Publishing date 2015-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.12573
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1882: 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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  5. Book: Genetic skin disorders

    Sybert, Virginia P

    (Oxford monographs on medical genetics ; no. 69)

    2017  

    Author's details Virginia P. Sybert
    Series title Oxford monographs on medical genetics ; no. 69
    MeSH term(s) Skin Diseases, Genetic/diagnosis ; Diagnosis, Differential
    Language English
    Size xix, 468 pages :, illustrations.
    Edition Third edition
    Document type Book
    ISBN 9780190276478 ; 0190276479
    Database Catalogue of the US National Library of Medicine (NLM)

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  6. Article ; Online: Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

    Tokita, Mari J / Sybert, Virginia P

    American journal of medical genetics. Part A

    2016  Volume 170A, Issue 5, Page(s) 1196–1201

    Abstract: High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX ... ...

    Abstract High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism.
    MeSH term(s) Adolescent ; Adult ; Aneuploidy ; Child ; Child, Preschool ; Female ; Genetic Counseling ; Humans ; Infant ; Karyotyping ; Male ; Mosaicism ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Sex Chromosomes/genetics ; Turner Syndrome/diagnosis ; Turner Syndrome/genetics ; Turner Syndrome/pathology
    Language English
    Publishing date 2016-01-20
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.37551
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Genetic counseling in epidermolysis bullosa.

    Sybert, Virginia P

    Dermatologic clinics

    2010  Volume 28, Issue 2, Page(s) 239–43, viii

    Abstract: This article contains the author's views on genetic counseling in cases concerning the epidermolysis bullosa syndromes. The provision of genetic counseling entails absolutes such as diagnosis, natural history, treatment, mode of inheritance, recurrence ... ...

    Abstract This article contains the author's views on genetic counseling in cases concerning the epidermolysis bullosa syndromes. The provision of genetic counseling entails absolutes such as diagnosis, natural history, treatment, mode of inheritance, recurrence risks/prenatal diagnosis and referral. The genetic counselor needs to be informed and informative and answer all the needs of the patients and their families reliably both at the initial consultation and subsequently as needed over the course of the patient's life.
    MeSH term(s) Epidermolysis Bullosa/diagnosis ; Epidermolysis Bullosa/epidemiology ; Epidermolysis Bullosa/genetics ; Genetic Counseling ; Humans ; Prenatal Diagnosis ; Recurrence ; Referral and Consultation ; Risk Factors
    Language English
    Publishing date 2010-04
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 82798-8
    ISSN 1558-0520 ; 0733-8635
    ISSN (online) 1558-0520
    ISSN 0733-8635
    DOI 10.1016/j.det.2009.12.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Se 851: 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)

    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.

  8. Book: Genetic skin disorders

    Sybert, Virginia P

    (Oxford monographs on medical genetics ; no. 60)

    2010  

    Author's details Virginia P. Sybert
    Series title Oxford monographs on medical genetics ; no. 60
    MeSH term(s) Skin Diseases, Genetic/diagnosis ; Diagnosis, Differential
    Language English
    Size xxi, 762 p. :, ill.
    Edition 2nd ed.
    Publisher Oxford University Press
    Publishing place Oxford ; New York
    Document type Book
    ISBN 9780195397666 ; 0195397665
    Database Catalogue of the US National Library of Medicine (NLM)

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    Order via subito

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  9. Article ; Online: Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.

    Peschel, Nicolai / Wright, John T / Koster, Maranke I / Clarke, Angus J / Tadini, Gianluca / Fete, Mary / Hadj-Rabia, Smail / Sybert, Virginia P / Norderyd, Johanna / Maier-Wohlfart, Sigrun / Fete, Timothy J / Pagnan, Nina / Visinoni, Atila F / Schneider, Holm

    Genes

    2022  Volume 13, Issue 12

    Abstract: To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For ... ...

    Abstract To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For this purpose, we searched the databases PubMed and OMIM for the term "ectodermal dysplasia", referring mainly to changes in the last 5 years. We also tried to obtain information about those diseases on which the last scientific report appeared more than 15 years ago by contacting the authors of the most recent publication. A group of experts, composed of researchers who attended the 8th International Conference on Ectodermal Dysplasias and additional members of the previous classification panel, reviewed the proposed amendments and agreed on a final table listing all 49 currently known ectodermal dysplasias for which the molecular genetic basis has been clarified, including 15 new entities. A newly reported ectodermal dysplasia, linked to the gene
    Language English
    Publishing date 2022-12-10
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13122327
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.

    Stergachis, Andrew B / Blue, Elizabeth E / Gillentine, Madelyn A / Wang, Lee-Kai / Schwarze, Ulrike / Cortés, Adriana Sedeño / Ranchalis, Jane / Allworth, Aimee / Bland, Austin E / Chanprasert, Sirisak / Chen, Jingheng / Doherty, Daniel / Folta, Andrew B / Glass, Ian / Horike-Pyne, Martha / Huang, Alden Y / Khan, Alyna T / Leppig, Kathleen A / Miller, Danny E /
    Mirzaa, Ghayda / Parhin, Azma / Raskind, Wendy / Rosenthal, Elisabeth A / Sheppeard, Sam / Strohbehn, Samuel / Sybert, Virginia P / Tran, Thao T / Wener, Mark / Byers, Peter H / Nelson, Stanley F / Bamshad, Michael J / Dipple, Katrina M / Jarvik, Gail P / Hoppins, Suzanne / Hisama, Fuki M

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Objectives: Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript sequencing is largely unexplored.: ... ...

    Abstract Objectives: Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript sequencing is largely unexplored.
    Methods: We applied short-read and full-length isoform cDNA sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis.
    Results: We identified an intronic homozygous
    Discussion: This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.
    Language English
    Publishing date 2023-02-07
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.02.07.526487
    Database MEDical Literature Analysis and Retrieval System OnLINE

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