Search
for

    Sort by

    Research 30 of 1000+

    1. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling and Therapy Medical Entomology and Zoology · 1989 · 179 citations
    2. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    3. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    4. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    5. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    6. Ichthyosis Follicularis With Alopecia and Photophobia Archives of dermatology · 1985 · 75 citations
    7. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    8. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    9. Care of the newborn with ichthyosis Dermatologic Therapy · 2013 · 49 citations
    10. Inherited ichthyosis: Syndromic forms Journal of dermatology · 2016 · 47 citations
    11. Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome Journal of Pediatric Gastroenterology and Nutrition · 2011 · 44 citations
    12. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin 2005 · 40 citations
    13. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    14. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter 2000 · 36 citations
    15. A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome Clinical and Experimental Dermatology · 2010 · 34 citations
    16. Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications The Journal of Dermatology · 2010 · 29 citations
    17. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    18. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    19. Nutritional Status and Gastrointestinal Structure and Function in Children With Ichthyosis and Growth Failure Journal of pediatric gastroenterology and nutrition · 2004 · 22 citations
    20. Ichthyosiform Rash and Fever in a Child Archives of Dermatology · 1993 · 22 citations
    21. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    22. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    23. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    24. Follicular ichthyosis 1984 · 17 citations
    25. Netherton's syndrome and ichthyosis linearis circumflexa. PubMed · 1970 · 15 citations
    26. A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation Journal of human genetics · 2010 · 14 citations
    27. Clearance of ichthyosis linearis circumflexa with balneophototherapy Journal of the European Academy of Dermatology and Venereology · 2000 · 12 citations
    28. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations
    29. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    30. Recent advances in congenital ichthyoses 2015 · 10 citations