research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
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810-840 / 1000+ resultsresearch Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers
Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
research Genomic Analysis of Trichotillomania
Trichotillomania may have a genetic link to psychiatric disorders.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research Eruptive vellus hair cysts: an original case occurring in twins
Twins had rare skin cysts likely due to genetics.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
research Cyclic dynamics of hair follicles and the effect of minoxidil on the bald scalps of stumptailed macaques
Minoxidil helps grow longer, thicker hair in bald scalps of stumptailed macaques, and early treatment is more effective.
research Dermocosmetic Aspects of Hair and Scalp
New hair products are being developed to keep hair and scalp healthy for everyone.
research Scalp whorls
Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.
research Bone mineral density in hyperandrogenic amenorrhoea
Women with hyperandrogenic amenorrhea have similar bone density to healthy women but lower than androgenized women without amenorrhea, and high DHEAS levels might affect bone density.
research The Functional Relevance of the Type 1 Cytokines IFN-γ and IL-2 in Alopecia Areata of C3H/HeJ Mice
IFN-γ and IL-2 are important for T cell activation in hair loss in mice.
research Patients with vitiligo present fewer cardiovascular risk factors: results from a case–control study
People with vitiligo may have a lower risk of heart disease.
research Hirsutism, postpartum telogen effluvium, and male pattern alopecia
Hormonal changes during and after pregnancy can cause hair growth changes and hair loss, with treatments available for some conditions.
research Viable terminal scalp hair follicles constitute a necessary and sufficient biological end‐organ that conditions clinical efficacy of finasteride in males with male pattern hair loss without implying reversal of miniaturized follicles
Finasteride works for hair loss by maintaining existing hair follicles, not reversing miniaturization.
research Healthy Lifestyle and Dietary Approaches to Treating Polycystic Ovary Syndrome: A Review
Eating healthy, exercising, and changing behaviors are the best first steps to treat Polycystic Ovary Syndrome (PCOS).
research Hair loss after terbinafine treatment
Terbinafine can cause hair loss.
research Evaluation Asprosin Level in Polycystic Ovary Syndrome and Its Association with Fetuin a and Some Biochemical Parameter
Fetuin A levels are higher in PCOS patients, while asprosin levels show no difference.
research Preparation and Evaluation of Curcumin Nanocrystals for Topical Administration: Cell Line Analysis and Histopathological Examination
Curcumin nanocrystal gel improves skin absorption and is safe and effective for topical use.
research Spiritual well-being and quality of life among newly diagnosed Palestinian women with breast cancer: a prospective study
Spiritual well-being improves quality of life for Palestinian women with breast cancer.