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    Research 91–120 of 486

    1. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    2. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    3. Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation PloS one · 2012 · 32 citations
    4. The Molecular Basis of Androgen Insensitivity Hormone Research in Paediatrics · 2000 · 25 citations
    5. Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene 2015 · 22 citations
    6. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    7. A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis Mammalian genome · 2009 · 21 citations
    8. Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis European Journal of Oral Sciences · 2013 · 20 citations
    9. Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis Annual Review of Cancer Biology · 2023 · 13 citations
    10. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    11. A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits BMC genomics · 2023 · 5 citations
    12. Double mutation of <i>claudin‐1</i> and <i>claudin‐3</i> causes alopecia in infant mice Annals of the New York Academy of Sciences · 2023 · 3 citations
    13. Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus 2019 · 3 citations
    14. The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein Journal of Investigative Dermatology · 2007 · 1 citations
    15. Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation Frontiers in pediatrics · 2022
    16. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    17. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    18. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    19. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019
    20. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    21. Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women Human Reproduction · 2006 · 25 citations
    22. 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
    23. Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations International Journal of Molecular Sciences · 2022 · 6 citations
    24. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    25. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    26. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    27. Molecular genetics of androgen insensitivity Adolescent and pediatric gynecology · 1995
    28. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    29. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    30. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations