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  1. TI=Le syndrome de Waardenburg
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  1. Article: Le syndrome de Waardenburg.

    Mouriaux, F / Hamedani, M / Hurbli, T / Uteza, Y / Oubaaz, A / Morax, S

    Journal francais d'ophtalmologie

    1999  Volume 22, Issue 7, Page(s) 799–809

    Title translation Waardenburg's syndrome.
    MeSH term(s) Adolescent ; Adult ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Waardenburg Syndrome/diagnosis ; Waardenburg Syndrome/genetics ; Waardenburg Syndrome/surgery
    Language French
    Publishing date 1999-08
    Publishing country France
    Document type Journal Article ; Review
    ZDB-ID 426662-6
    ISSN 1773-0597 ; 0181-5512
    ISSN (online) 1773-0597
    ISSN 0181-5512
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1417: 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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  2. Article: Le syndrome de Waardenburg.

    Cacheux, V / Delezoide, A L / Vekemans, M

    Comptes rendus des seances de la Societe de biologie et de ses filiales

    1996  Volume 190, Issue 5-6, Page(s) 577–580

    Abstract: Waardenburg syndrome is an autosomal dominant disorder characterised by sensorineural hearing loss ... of Waardenburg syndrome is extremely variable. The potential sources of this variability include allelic ... of gene expression in Waardenburg could provide insights that are relevant to many other multifactorial diseases. ...

    Title translation Waardenburg's syndrome.
    Abstract Waardenburg syndrome is an autosomal dominant disorder characterised by sensorineural hearing loss, pigmentary abnormalities of iris, hair and skin and dystopia canthorum. The expression of clinical findings of Waardenburg syndrome is extremely variable. The potential sources of this variability include allelic variation, genetic heterogeneity, epistatic modifying genes and stochastic effects. This type of multifactorial inheritance based on oligogenic epistasis is very different from the model based on polygenic inheritance. Indeed in the first model, knowledge of the genotype at relevant modifier loci may allow prediction and possibly treatment of clinically relevant aspects of the phenotype. Therefore a more complete understanding of gene expression in Waardenburg could provide insights that are relevant to many other multifactorial diseases.
    MeSH term(s) Animals ; Gene Expression ; Guinea Pigs ; Humans ; Mutation ; Waardenburg Syndrome/classification ; Waardenburg Syndrome/genetics
    Language French
    Publishing date 1996
    Publishing country France
    Document type English Abstract ; Journal Article
    ZDB-ID 215879-6
    ISSN 0037-9026 ; 1295-0661
    ISSN 0037-9026 ; 1295-0661
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Uc I Zs.67: Show issues Location:
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  3. Article: Le syndrome de Waardenburg

    Porot, M / Dugas, M / Duplaix, A

    Revue de neuropsychiatrie infantile et d'hygiene mentale de l'enfance

    1975  Volume 23, Issue 10-11, Page(s) 727–740

    Title translation Waardenburg's syndrome.
    MeSH term(s) Abnormalities, Multiple/diagnosis ; Epilepsy/diagnosis ; Female ; Humans ; Male ; Waardenburg Syndrome/diagnosis
    Language French
    Publishing date 1975-10
    Publishing country France
    Document type English Abstract ; Journal Article
    ZDB-ID 390151-8
    ISSN 0035-1628
    ISSN 0035-1628
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 31: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article: Le syndrome de waardenburg-klein

    Ortonne, J P / Perrot, H / Beyvin, A J / Revol, L / Thivolet, J

    Annales de dermatologie et de syphiligraphie

    1976  Volume 103, Issue 3, Page(s) 245–256

    Abstract: A case of Waardenburg-Klein syndrome associated with a Hodgkin's disease is reported in a 29 year ...

    Title translation The Waardenburg-Klein syndrome.
    Abstract A case of Waardenburg-Klein syndrome associated with a Hodgkin's disease is reported in a 29 year old female. Such an association seems to be fortuitous. The authors discuss the dermatological aspects of this rare disease, particularly the disturbances of cutaneous pigmentation. Ultrastructural study of depigmented skin indicates the melanocytes are absent and precise the place of this depigmentation in the group of genetic abnormalities of skin pigmentation.
    MeSH term(s) Abnormalities, Multiple/pathology ; Adult ; Female ; Hodgkin Disease/complications ; Humans ; Pigmentation Disorders/pathology ; Skin/pathology ; Waardenburg Syndrome/complications ; Waardenburg Syndrome/pathology
    Language French
    Publishing date 1976
    Publishing country France
    Document type Case Reports ; English Abstract ; Journal Article
    ZDB-ID 203535-2
    ISSN 0003-3979 ; 0150-9764
    ISSN 0003-3979 ; 0150-9764
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ui VI Zs.30: Show issues Location:
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