Search
for

    Sort by

    Research 631–660 of 794

    1. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    2. Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases Acta dermato-venereologica · 2020 · 1 citations
    3. 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome Journal of Investigative Dermatology · 2017
    4. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations
    5. Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia Development · 2001 · 114 citations
    6. MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE. British Journal of Dermatology · 1969 · 58 citations
    7. The keratins and their disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004 · 53 citations
    8. Skin diseases in the alpaca (<i>Vicugna pacos</i>): a literature review and retrospective analysis of 68 cases (Cornell University 1997–2006) Veterinary Dermatology · 2010 · 46 citations
    9. Hair Shaft Videodermoscopy in Netherton Syndrome Pediatric Dermatology · 2008 · 41 citations
    10. Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production Journal of Investigative Dermatology · 2019 · 40 citations
    11. Retinoids and Keratinization International Journal of Dermatology · 1988 · 32 citations
    12. Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome Anais Brasileiros de Dermatologia · 2015 · 30 citations
    13. Off-Label Uses of Topical Vitamin D in Dermatology: A Systematic Review Journal of cutaneous medicine and surgery · 2014 · 26 citations
    14. Trichothiodystrophy with Dysmyelination and Central Osteosclerosis American Journal of Neuroradiology · 2010 · 16 citations
    15. Symmetrical acrokeratoderma: A peculiar entity in China? Clinicopathologic and immunopathologic study of 34 new cases Journal of The American Academy of Dermatology · 2014 · 14 citations
    16. Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency Archives of dermatology · 2011 · 13 citations
    17. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    18. Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria Pediatric Dermatology · 1997 · 7 citations
    19. Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention Photodermatology Photoimmunology & Photomedicine · 2020 · 6 citations
    20. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    21. [Netherton's syndrome in two sisters]. PubMed · 2002 · 3 citations
    22. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    23. Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report Clinical Cosmetic and Investigational Dermatology · 2026
    24. PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation British Journal of Dermatology · 2026
    25. Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant Human Genome Variation · 2026
    26. ИХТИОЗ АРЛЕКИНО: КЛИНИЧЕСКИЙ СЛУЧАЙ 2026
    27. Caracterización de signos cutáneos y sus anexos, en niños menores de 5 años con desnutrición severa Revista Digital de Postgrado · 2025
    28. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    29. Genes of Congenital Dermatologic Disorders in Dogs—A Review Folia veterinaria · 2021
    30. Miscellaneous Skin Diseases Clinical Small Animal Internal Medicine · 2020