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OpenAlex topic

Genetic and rare skin diseases.

This page lists works and academicians tagged with an OpenAlex topic. It is not a YÖKSİS primary or secondary field.

OpenAlex 1,416 works 15 author topics

Works

1,416 works

  1. Medulloblastoma: clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups 2011
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.6%

    No abstract yet.

  2. Harlequin Ichthyosis 2011
    OpenAlex top 10% OpenAlex 96.7%

    OBJECTIVE: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. DESIGN: Multicenter, retrospective, questionnaire-based survey. SETTING: Dermatology research institute. PARTICIPANTS: Patients with harlequin ichthyosis for whom we had per…

  3. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.8%

    No abstract yet.

  4. Pemphigus in the Mediterranean region of Turkey A study of 148 cases 2006
    YÖKSİS SJR Q2 JCR Q4 OpenAlex 72.9%

    BACKGROUND: The purpose of this study was to describe the epidemiological and clinical features, course, response to treatment, and prognosis of pemphigus in the Mediterranean region of Turkey. METHODS: All patients with confirmed pemphigus were prospectively enrolled in two major dermatology departments in the cities…

  5. Phenotypic variability in 49 cases of ESCO2 mutations including novel missense and codon deletion in the acetyltransferase domain correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 93.6%

    BACKGROUND: Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all others are predicted to be truncating mutations. G…

  6. Clinical aspects of epidermodysplasia verruciformis and review of the literature 2007
    YÖKSİS SJR Q2 JCR Q3 OpenAlex 78.6%

    BACKGROUND: Epidermodysplasia verruciformis (EV), is an unusual genodermatosis characterized by persistent human papilloma virus infection with an autosomal recessive inheritance pattern. Clinically, it is characterized by flat wart-like lesions, scaly hypo- and hyperpigmented macules and/or patches, which resemble pi…

  7. Xanthelasmas of the upper gastrointestinal tract 2004
    OpenAlex 88.7%

    No abstract yet.

  8. Dermoscopic patterns in active and regressive lichen planus and lichen planus variants a morphological study 2015
    YÖKSİS OpenAlex top 10% OpenAlex 98.0%

    Background: Lichen planus (LP) is an acute or chronic inflammatory skin disorder characterized by discrete, violaceous, polygonal papules. Objective: In this study, we aimed to categorize the dermoscopic images of LP and LP variants before and after treatment. Methods: We analyzed and categorized the dermoscopic image…

  9. Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas 2017
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 94.3%

    No abstract yet.

  10. PORCN mutations in focal dermal hypoplasia Coping with lethality 2009
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 94.9%

    The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from…

  11. PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality 2009
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 94.8%

    The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from…

  12. title Specific mosaic iKRAS/i mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis/title 2016
    YÖKSİS SJR Q2 JCR Q2 OpenAlex top 10% OpenAlex 96.5%

    Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients wit…

Academicians

15 academicians