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  1. Article: Adulter Morbus Still (AOSD)

    Giordano, Anna / Hake, Lisanne / Gutzeit, Thorsten / Rose, Christian / Kleinheinz, Andreas

    Derm

    2023  Volume 29, Issue 2, Page(s) 153

    Language German
    Document type Article
    ZDB-ID 1315453-9
    ISSN 0949-7633
    Database Current Contents Medicine

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5786: Show issues Location:
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  2. Article ; Online: Schmerzhafte erythematöse Knoten am Unterschenkel.

    Hake, Lisanne / Drerup, Katharina / Braun, Stephan Alexander / Drerup, Christian

    Dermatologie (Heidelberg, Germany)

    2021  Volume 73, Issue 7, Page(s) 587–589

    Title translation Painful erythematous nodules on the lower leg.
    MeSH term(s) Humans ; Leg ; Lower Extremity ; Pain/diagnosis
    Language German
    Publishing date 2021-08-30
    Publishing country Germany
    Document type Journal Article
    ISSN 2731-7013
    ISSN (online) 2731-7013
    DOI 10.1007/s00105-021-04884-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Recurrent acute hemorrhagic edema of infancy (AHEI) during puberty.

    Drerup, Christian / Hake, Lisanne / Oji, Vinzenz / Sunderkötter, Cord

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2018  Volume 16, Issue 12, Page(s) 1496–1498

    MeSH term(s) Acute Disease ; Adolescent ; Age of Onset ; Dapsone/therapeutic use ; Ecchymosis/diagnosis ; Ecchymosis/drug therapy ; Ecchymosis/pathology ; Edema/diagnosis ; Edema/drug therapy ; Edema/pathology ; Female ; Hemorrhage/diagnosis ; Hemorrhage/drug therapy ; Hemorrhage/pathology ; Humans ; Puberty ; Recurrence ; Vasculitis, Leukocytoclastic, Cutaneous/diagnosis ; Vasculitis, Leukocytoclastic, Cutaneous/drug therapy ; Vasculitis, Leukocytoclastic, Cutaneous/pathology
    Chemical Substances Dapsone (8W5C518302)
    Language English
    Publishing date 2018-11-09
    Publishing country Germany
    Document type Case Reports ; Letter
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.13699
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6148: Show issues Location:
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  4. Article ; Online: Rezidivierendes akutes hämorrhagisches Ödem des Kindesalters (AHEI) in der Pubertät.

    Drerup, Christian / Hake, Lisanne / Oji, Vinzenz / Sunderkötter, Cord

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2018  Volume 16, Issue 12, Page(s) 1496–1498

    Language English
    Publishing date 2018-12-28
    Publishing country Germany
    Document type Letter
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.13699_g
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6148: Show issues Location:
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  5. Article ; Online: Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

    Hotz, Alrun / Bourrat, Emmanuelle / Küsel, Julia / Oji, Vinzenz / Alter, Svenja / Hake, Lisanne / Korbi, Mouna / Ott, Hagen / Hausser, Ingrid / Zimmer, Andreas D / Fischer, Judith

    Human mutation

    2018  Volume 39, Issue 10, Page(s) 1305–1313

    Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin. Ten genes are currently known to be associated with ARCI: TGM1, ALOXE3, ALOX12B, ... ...

    Abstract Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin. Ten genes are currently known to be associated with ARCI: TGM1, ALOXE3, ALOX12B, NIPAL4 (ICHTHYIN), ABCA12, CYP4F22, PNPLA1, CERS3, SDR9C7, and SULT2B1. Over a period of 22 years, we have studied a large patient cohort from 770 families with a clinical diagnosis of ARCI. Since the first report that mutations in the gene CYP4F22 are causative for ARCI in 2006, we have identified 54 families with pathogenic mutations in CYP4F22 including 23 previously unreported mutations. In this report, we provide an up-to-date overview of all published and novel CYP4F22 mutations and point out possible mutation hot spots. We discuss the molecular and clinical findings, the genotype-phenotype correlations and consequences on genetic testing.
    MeSH term(s) Alleles ; Computational Biology/methods ; Cytochrome P-450 Enzyme System/genetics ; Female ; Genes, Recessive ; Genetic Association Studies ; Genetic Testing ; Genotype ; Humans ; Ichthyosis/diagnosis ; Ichthyosis/genetics ; Male ; Mutation ; Pedigree ; Phenotype ; Skin/pathology ; Skin/ultrastructure
    Chemical Substances Cytochrome P-450 Enzyme System (9035-51-2) ; CYP4F22 protein, human (EC 1.-)
    Language English
    Publishing date 2018-08-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.23594
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3586: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
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