20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
15 citations
,
May 2014 in “Journal of dermatology” This review suggests the existence of a new syndrome characterized by keratosis pilaris, ulerythema ophryogenes, and monosomy 18p, emphasizing its potential utility in diagnosing monosomy 18p.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
8 citations
,
September 2016 in “Pediatric dermatology” This review discusses the diverse clinical manifestations of mucopolysaccharidoses in children and emphasizes the importance of early diagnosis and treatment initiation, but it reports no new clinical findings.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
1 citations
,
May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
1 citations
,
December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
This reference list, part of a book by Alex Gough, Alison Thomas, and Dan O'Neill, compiles citations from veterinary journals on various canine and feline health issues, but reports no new research findings.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
July 1997 in “Clinical Orthopaedics and Related Research” This case report describes a 26-year-old woman with a giant cell tumor in the left proximal fibula, presenting atypically alongside pseudopseudohypoparathyroidism features, which remain rare in such contexts.
8 citations
,
November 2015 in “The American journal of dermatopathology/American journal of dermatopathology” The authors present a case of punctate follicular porokeratosis, suggesting it as a distinct clinical entity distinguished by keratotic lesions originating specifically from hair follicles.
March 2022 in “JAAD case reports” A man had a non-cancerous, fast-growing skin lump on his arm that was removed with surgery.
855 citations
,
June 2009 in “The Journal of Clinical Endocrinology & Metabolism” The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.
393 citations
,
November 2000 in “Archives of General Psychiatry” This review discusses the neurobiology of sexual function and reports no new results; the authors cover multiple endocrine and neurotransmitter influences on sexual desire, arousal, and orgasm stages.
258 citations
,
July 2016 in “Reproductive Biology and Endocrinology” This abstract reviews the characteristics and health risks associated with polycystic ovary syndrome and does not report new findings, highlighting the syndrome's multifactorial nature.
213 citations
,
June 2017 in “Rheumatology” This guideline outlines the management of systemic lupus erythematosus in adults but reports no new clinical findings.
168 citations
,
August 2000 in “American Journal of Pathology” This study suggests that fibromodulin may regulate transforming growth factor-β activity during scar formation, influencing the transition from fetal scarless repair to adult scar-forming repair in rats.
138 citations
,
May 2000 in “Maturitas” This review discusses the effects of estrogen on skin and reports no new clinical results; it highlights estrogen's potential benefits on skin thickness, collagen quality, and hair follicle life cycle.
137 citations
,
March 2006 in “Cns Drug Reviews” This review explores finasteride's effects on neuroactive steroid levels and their potential influence on disorders like depression and alcohol withdrawal but reports no new clinical findings.
130 citations
,
October 2006 in “Allergy” This review discusses hypersensitivity reactions to anticoagulants, highlighting the importance of early diagnosis and exploring various diagnostic and management options, but it presents no new clinical findings.
123 citations
,
December 2015 in “Journal of Neuroendocrinology” This review discusses recent strategies targeting the neuroactive steroid biosynthetic pathway to enhance neurosteroidogenesis, highlighting their potential benefits for neurodegenerative and neuropsychiatric diseases, but reports no new clinical findings.
109 citations
,
October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
92 citations
,
January 1998 in “Dermatology” This study found that 2% ketoconazole shampoo improved hair density and anagen follicle proportion in androgenic alopecia similarly to minoxidil treatment, suggesting a potential role for Malassezia in inflammation.
71 citations
,
January 2004 in “Dermatology” This study found that oral finasteride was more effective than 5% topical minoxidil in treating mild to severe androgenetic alopecia in males, with both treatments deemed effective and safe over 12 months.
70 citations
,
June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” This study reports that the TrichoScan method effectively measures hair growth parameters and detected significant improvements in hair counts and thickness in men with androgenetic alopecia after finasteride treatment.
69 citations
,
July 1997 in “Der Urologe” This study found that PRO 160/120 and Finasteride showed similar effectiveness in improving urinary symptoms and quality of life in patients with benign prostatic hyperplasia over 48 weeks.
67 citations
,
April 2018 in “JAMA Dermatology” This study found that endocrine therapy for breast cancer is associated with a pattern of hair loss similar to androgenetic alopecia, negatively impacting quality of life despite mild severity.
56 citations
,
January 2007 in “Pharmaceutical Development and Technology” This study found that finasteride-loaded liposomal formulations achieved significantly higher skin permeation and deposition compared to conventional gels and solutions, suggesting potential for effective topical application.