research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
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90-120 / 1000+ resultsresearch Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Alopecia Areata in Skin of Color: Trichoscopic Analysis in Black/African American Patients
Better documentation of alopecia areata in Black individuals is needed to improve diagnosis.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research CHROMALENS PRECISION MAPPING AS AN INNOVATIVE SYSTEM FOR MICROZONAL HAIR ANALYSIS: STRUCTURE, ALGORITHM, AND COMPARISON WITH CLASSICAL COLORING TECHNIQUES
research When the algorithm fails and experience wins: An extraordinary trichoscopic case
Thorough hair examination is crucial for accurate diagnosis and treatment.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Color-transition sign: A useful trichoscopic finding for differentiating alopecia areata incognita from telogen effluvium
The "color-transition sign" helps tell apart alopecia areata incognita from telogen effluvium by looking at hair color changes.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Pigmented contact dermatitis due to therapeutic sensitizer as complication of contact immunotherapy in alopecia areata
Some patients with severe alopecia areata developed skin darkening from their treatment, which may indicate a less effective response to the therapy.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research ‘Atrichosis’, a new hairless gene with cyst formation in rats
A new gene causes hairlessness and skin cysts in rats.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research A retrospective review of hyperaesthetic leucotrichia in horses in the USA
Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.
research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (Wsh) homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps
Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
research Coexistence of Monilethrix and Androgenetic Alopecia: A Case Report and Review of the Literature
Diagnosing and treating monilethrix is challenging when it occurs with other hair disorders.
research Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
Zinc supplementation effectively treats acrodermatitis enteropathica symptoms.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Circulating testosterone and feather-gene expression of receptors and metabolic enzymes in relation to melanin-based colouration in the barn owl
Barn owls with smaller black spots have higher testosterone levels, which might be due to genetic effects on hormone regulation rather than hormone effects on coloration.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research An ophthalmological and electroretinographic study of patients taking canthaxanthin and beta-carotene
Long-term use of canthaxanthin may cause reversible changes in the eye, including crystal deposits and altered vision responses.