Search
for

    Sort by

    Research 30 of 1000+

    1. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    2. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    3. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    4. Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice bioRxiv (Cold Spring Harbor Laboratory) · 2024
    5. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations
    6. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    7. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    8. Inherited Hairlessness: A Case Study of Familial Congenital Atrichia Curēus · 2023
    9. Alopecia frontal fibrosante: revisão bibliográfica dos aspectos gerais, fisiopatológicos, diagnósticos e do tratamento Brazilian Journal of Health Review · 2024
    10. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. PubMed · 2006 · 46 citations
    11. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    12. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations
    13. Atrichia With Papular Lesions Archives of Dermatology · 1986 · 32 citations
    14. Semidominant Inheritance in Epidermolytic Ichthyosis Journal of Investigative Dermatology · 2013 · 10 citations
    15. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    16. Alopezien und Hypotrichosen im Kindesalter Der Hautarzt · 2014 · 5 citations
    17. Natural variation in trichome density and biochemistry in Antirrhinum ERA · 2026
    18. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    19. Mutation des menschlichen hairless -Gens bei Atrichia universalis Der Hautarzt · 1998 · 2 citations
    20. Hague (<i>Hag</i>): A New Mouse Hair Mutation With an Unstable Semidominant Allele Genetics · 2002 · 11 citations
    21. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families The Journal of Dermatology · 2011 · 11 citations
    22. Application of the basic and specific classification on patterned hair loss in Indians International Journal of Trichology · 2013 · 8 citations
    23. Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity Pediatric Dermatology · 1986 · 5 citations
    24. The inheritance of common baldness: Two B or not two B ? Journal of the American Academy of Dermatology · 1984 · 203 citations
    25. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    26. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    27. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998 · 83 citations
    28. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025
    29. Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes Journal of Investigative Dermatology · 1998 · 169 citations
    30. Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria International Journal of Clinical Obstetrics and Gynaecology · 2025