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    Research 541–570 of 1000+

    1. Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features American Journal of Medical Genetics Part A · 2018 · 39 citations
    2. 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
    3. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999 · 37 citations
    4. Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2010 · 36 citations
    5. Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5 Genomics · 2003 · 29 citations
    6. Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities American Journal of Medical Genetics Part A · 2018 · 28 citations
    7. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene British Journal of Dermatology · 2011 · 26 citations
    8. Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients Clinical genetics · 2009 · 26 citations
    9. Evidence of increased DNA methylation of the androgen receptor gene in occipital hair follicles from men with androgenetic alopecia British Journal of Dermatology · 2011 · 24 citations
    10. The structure of hair and follicles of mice carrying the naked (<i>N</i>) gene Genetics Research · 1982 · 21 citations
    11. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    12. Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene Laboratory Animals · 2002 · 20 citations
    13. The Microanatomy, Cell Replication, and Keratin Gene Expression of Hair Follicles during a Photoperiod-lnduced Growth Cycle in Sheep Cells tissues organs · 1995 · 20 citations
    14. Osteopontin Gene is Expressed in the Dermal Papilla of Pelage Follicles in a Hair-Cycle-Dependent Manner Journal of Investigative Dermatology · 2001 · 17 citations
    15. Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes American Journal of Medical Genetics Part A · 2021 · 16 citations
    16. <i>Mrp4</i>, A New Mitogen-Regulated Protein/Proliferin Gene; Unique in this Gene Family for its Expression in the Adult Mouse Tail and Ear<sup>1</sup> Endocrinology · 2000 · 16 citations
    17. The expression of the gene <i>asebia</i> in the laboratory mouse: 3. Sebaceous glands Genetics Research · 1978 · 16 citations
    18. Investigation of variants of the aromatase gene (CYP19A1) in female pattern hair loss British Journal of Dermatology · 2011 · 15 citations
    19. 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
    20. Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene Yonsei Medical Journal · 2018 · 13 citations
    21. Protein and amino acid composition of hair from mice carrying the naked (<i>N</i>) gene Genetics Research · 1984 · 12 citations
    22. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    23. Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer Journal of The European Academy of Dermatology and Venereology · 2014 · 11 citations
    24. Association between <i>IL16</i> gene polymorphisms and susceptibility to alopecia areata in the Korean population International Journal of Dermatology · 2013 · 11 citations
    25. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families The Journal of Dermatology · 2011 · 11 citations
    26. Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution? 2008 · 11 citations
    27. Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene Journal of dermatology · 2015 · 10 citations
    28. Polymorphic CAG repeat numbers in the androgen receptor gene of female pattern hair loss patients Journal of Dermatology · 2010 · 10 citations
    29. Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review The Journal of Dermatology · 2018 · 9 citations
    30. Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss Archives of Dermatological Research · 2012 · 9 citations