Search
for

    Sort by

    Research 211–240 of 1000+

    1. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    2. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    3. Tricotiodistrofia. Reporte de un caso Revista del Centro Dermatológico Pascua · 2007
    4. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010 · 97 citations
    5. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    6. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    7. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    8. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    9. Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity Pediatric Dermatology · 1986 · 5 citations
    10. Fibrosing Frontal Alopecia: A comprehensive study to understand its etiology International Seven Journal of Multidisciplinary · 2024
    11. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    12. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    13. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    14. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    15. Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation] The Mouseion at the JAXlibrary (Jackson Laboratory) · 2000
    16. The inheritance of common baldness: Two B or not two B ? Journal of the American Academy of Dermatology · 1984 · 203 citations
    17. Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. PubMed · 2009 · 4 citations
    18. The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis PLoS Genetics · 2012 · 99 citations
    19. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    20. Monilethrix – Case report of a rare disease Nasza Dermatologia Online · 2015
    21. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    22. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis Journal of Investigative Dermatology · 2016 · 8 citations
    23. Frontal Fibrosing Alopecia and the Role of Cosmeceuticals in Its Pathogenesis Cosmetics · 2025
    24. Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene Science · 1998 · 412 citations
    25. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    26. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    27. Characterization of X-Linked SNP genotypic variation in globally distributed human populations GenomeBiology.com (London. Print) · 2010 · 31 citations
    28. Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza Scientific reports · 2020 · 8 citations
    29. Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Skin research and technology · 2022 · 2 citations
    30. 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