8 citations
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August 2009 in “Pediatric transplantation” A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
5 citations
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August 2012 in “Experimental Dermatology” Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
July 2012 in “Medical Hypotheses” Artemis dysfunction might cause hair loss through telomere shortening.
39 citations
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October 2010 in “Journal of The American Academy of Dermatology” Some patients with mycosis fungoides or Sézary syndrome experience hair loss, which may be similar to alopecia areata or linked to skin lesions, possibly due to abnormal T cells, and bexarotene can help treat it.
166 citations
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March 2007 in “Hypertension” High androgen levels in young women with PCOS are linked to higher blood pressure.
21 citations
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January 2003 in “Seminars in reproductive medicine” The document concludes that various drugs can manage symptoms and metabolic issues in women with PCOS.
71 citations
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January 2014 in “Journal of Proteome Research” Women with PCOS have different levels of certain fats and proteins in their blood, which could help diagnose the condition.
58 citations
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January 2013 in “The Journal of Clinical Endocrinology and Metabolism” Obese women with PCOS show a male-like pattern in certain fat tissue gene expressions.
6 citations
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June 2017 in “Reproductive Biomedicine Online” Chinese women with PCOS have higher androgen levels, which change with age and weight.
June 2023 in “Journal of Liaquat University of Medical & Health Sciences” Higher PSA levels are linked to more hirsutism in women with PCOS.
30 citations
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February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
89 citations
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October 1996 in “Dermatologic Clinics” Alopecia areata is likely caused by a combination of genetic factors and immune system dysfunction, and may represent different diseases with various causes.
57 citations
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March 2011 in “Pediatric Dermatology” Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
4 citations
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July 2021 in “Journal of Dermatological Treatment” Finasteride helps hair growth but may cause sexual side effects and depression.
4 citations
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June 2019 in “Journal of Cosmetic Dermatology” Women with hirsutism have different levels of omentin-1, which may be linked to the condition and its genetic aspects.
74 citations
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July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
September 2015 in “University of Southern Denmark Research Portal (University of Southern Denmark)” The guideline offers recommendations for diagnosing and managing PCOS and its complications.
7 citations
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July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
54 citations
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December 2007 in “Best Practice & Research Clinical Endocrinology & Metabolism” Targeting glucocorticoid action might help treat type-2 diabetes, but human trials are needed.
3 citations
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January 2010 in “Elsevier eBooks” The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
September 2020 in “British Journal of Dermatology” The document highlights advancements and findings in dermatology, including AI use, disease prevention, treatment efficacy, and the impact of conditions on patients' lives.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
The document is a detailed guide on skin conditions and treatments for dermatologists.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
January 2023 in “Frontiers in bioscience” Artemis protein may help control hair growth and health by influencing cell processes.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.