Latest Research

  1. Nemaline Myopathy 4
  2. IVIC Syndrome
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  5. Serpentine Fibula Polycystic Kidney …
  6. Choroiditis- Serpiginous
  7. Microphthalmia Associated With …
  8. Deafness- Isolated- Due to …
  9. Deafness- Autosomal Recessive 55
  10. Epitheliopathy- Acute Posterior …
  11. Glycogen Storage Disease Type 3
  12. Glucocorticoid Sensitive Hypertension

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Ichthyosis linearis circumflexa

  1. Successful induction of oral tolerance in Netherton syndrome.
  2. Human involucrin promoter mediates repression resistant and compartment specific LEKTI expression.
  3. A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report.
  4. Proteolytic Activation Cascade of the Netherton Syndrome-Defective Protein, LEKTI, in the Epidermis: Implications for Skin Homeostasis.
  5. Infliximab Infusions for Netherton Syndrome: Sustained Clinical Improvement Correlates with a Reduction of Thymic Stromal Lymphopoietin Levels in the Skin.
  6. Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.
  7. Association of SPINK5 gene polymorphisms with atopic dermatitis in Northeast China.
  8. Epithelial Stem Cells.
  9. New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
  10. Order and disorder in corneocyte adhesion.
  11. Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.
  12. [Alopecia, congenital ichthyosis, and growth delay, what is the diagnosis?].
  13. Surgical management of a giant condyloma of Buschke-Löwenstein in a patient with Netherton syndrome using the pedicled anterolateral thigh flap - A case report.
  14. Malignant Skin Tumours in Inherited Ichthyosis Patients.
  15. Isolation and culture of adult epithelial stem cells from human skin.
  16. Inherited disorders of accelerated desquamation.
  17. [mGluR5: a receptor at the therapeutic crossroad?].
  18. Ichthyosis linearis circumflexa.
  19. Therapeutic Implications of a Barrier-Based Pathogenesis of Atopic Dermatitis.
  20. [A lethal variant of Netherton syndrome in a large inbred family.]