Search
for

    Sort by

    Research 31–60 of 1000+

    1. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    2. Inherited ichthyosis: Syndromic forms Journal of dermatology · 2016 · 47 citations
    3. Chrousos syndrome: from molecular pathogenesis to therapeutic management European Journal of Clinical Investigation · 2015 · 47 citations
    4. Toward a Diagnostic Score in Cushing's Syndrome Frontiers in Endocrinology · 2019 · 42 citations
    5. Metabolic Syndrome and Skin Diseases Frontiers in Endocrinology · 2019 · 40 citations
    6. Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies Familial cancer · 2012 · 39 citations
    7. Acanthosis nigricans and the metabolic syndrome Clinics in Dermatology · 2017 · 30 citations
    8. Obesity and the Polycystic Ovary Syndrome Medical Clinics of North America · 2007 · 28 citations
    9. Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Dermatology · 1997 · 20 citations
    10. Prevention of Frey syndrome with superficial temporal fascia interpositioning: a retrospective study International Journal of Oral and Maxillofacial Surgery · 2014 · 20 citations
    11. Localized cutaneous necrosis associated with the antiphospholipid syndrome Australasian Journal of Dermatology · 2002 · 16 citations
    12. Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes Hormones · 2017 · 15 citations
    13. Clinical characteristics in Taiwanese women with polycystic ovary syndrome Clinical and Experimental Reproductive Medicine · 2015 · 15 citations
    14. Metabolic Syndrome and Insulin Resistance Syndrome among Infertile Women with Polycystic Ovary Syndrome: A Cross-Sectional Study from Central Vietnam Endocrinology and Metabolism · 2018 · 14 citations
    15. 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
    16. Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth Journal of the European Academy of Dermatology and Venereology · 2019 · 10 citations
    17. Trichorhinophalangeal Syndrome Dermatology · 1995 · 10 citations
    18. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    19. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    20. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene BMC medical genetics · 2014 · 9 citations
    21. A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy Case reports in nephrology and dialysis · 2018 · 6 citations
    22. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    23. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    24. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    25. Molecular mechanisms of ectodermal dysplasia syndromes Työväentutkimus Vuosikirja · 2004 · 3 citations
    26. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    27. PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene Indian Journal of Dermatology Venereology and Leprology · 2023 · 2 citations
    28. REPRODUCTIVE HORMONE LEVELS AND METABOLIC SYNDROME IN WOMEN WITH POLYCYSTIC OVARY SYNDROME IN SANA'A, YEMEN Universal Journal of Pharmaceutical Research · 2021 · 2 citations
    29. TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome Journal of Dermatological Science · 2016 · 2 citations
    30. A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia Archives of Dermatological Research · 2015 · 2 citations