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    Research 31–60 of 1000+

    1. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes 2011
    2. Regulation of Keratin Gene Expression in Hair Follicle Differentiation<sup>a</sup> Annals of the New York Academy of Sciences · 1991 · 98 citations
    3. Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert. 2004 · 62 citations
    4. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003 · 23 citations
    5. Is the Loose Anagen Hair Syndrome a Keratin Disorder? Archives of Dermatology · 2002 · 84 citations
    6. Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata Journal of Investigative Dermatology · 2005 · 44 citations
    7. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13 Human Molecular Genetics · 1995 · 54 citations
    8. 5 alpha-reductase-2 gene mutations in the Dominican Republic. The Journal of Clinical Endocrinology & Metabolism · 1996 · 53 citations
    9. The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach British Journal of Dermatology · 2002 · 15 citations
    10. Gene that causes woolly hair revealed Expert review of dermatology · 2008
    11. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene The Journal of Clinical Endocrinology & Metabolism · 2003 · 174 citations
    12. The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region American Journal of Medical Genetics · 1997 · 39 citations
    13. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999 · 37 citations
    14. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    15. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    16. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    17. Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations Archives of Dermatology · 2009 · 44 citations
    18. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015 · 7 citations
    19. Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function <i>VDR</i> mutation 2018 · 6 citations
    20. Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. The Journal of Clinical Endocrinology & Metabolism · 1996 · 78 citations
    21. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    22. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    23. Divergent genetic mechanism leads to spiny hair in rodents bioRxiv (Cold Spring Harbor Laboratory) · 2018
    24. Expanding the Phenotypic Spectrum of Olmsted Syndrome Journal of Investigative Dermatology · 2015 · 27 citations
    25. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    26. Prevalent founder mutation c.736T>A of <i>LIPH</i> in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood 2012 · 12 citations
    27. Genetic and biochemical aspects of the synthesis of keratin by hair follicles Cytology and genetics · 2007 · 5 citations
    28. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    29. A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix 2024
    30. Identification of genes and proteins associated with anagen wool growth Animal genetics · 2016 · 10 citations