research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
Search
for
Sort by
Research
810-840 / 1000+ results
research Retiform Sertoli-Leydig Cell Ovarian Tumour Presenting with Psammoma Bodies: A Rare Case Report
A rare ovarian tumor was successfully treated with surgery and chemotherapy.
research Broad Ligament Maneuver Reverses All Signs and Symptoms of PCOS – Case Study
The Broad Ligament Maneuver effectively relieved PCOS symptoms and restored ovarian function.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Polycystic ovary syndrome in Singapore
PCOS care in Singapore can be bettered by refining referral systems, standardizing diagnosis and treatment, enhancing complication screening, and offering educational resources for clinicians.
research Association of polycystic ovary syndrome and Graves′ disease: Is autoimmunity the link between the two diseases
The document suggests that there might be an autoimmune link between polycystic ovary syndrome and Graves' disease.
research DELIRIUM WITHOUT FOCAL SIGNS RELATED TO A THALAMIC STROKE
Thalamic stroke can cause delirium without other symptoms, especially in older adults.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman
A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Health-related quality of life in adult Mediterranean women with polycystic ovary syndrome attending to a tertiary hospital: a case-control study.
Women with PCOS have worse physical health but similar mental health compared to those without PCOS.
research BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss
A person with Werner syndrome was initially thought to just have female pattern hair loss.
research PCOS: update and diagnostic approach
The document concludes that more research is needed to fully understand the causes of PCOS.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research Serum Metabolomics Study of Polycystic Ovary Syndrome Based on Liquid Chromatography–Mass Spectrometry
Women with PCOS have different levels of certain fats and proteins in their blood, which could help diagnose the condition.
research Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman
The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Evaluation of serum level of omentin‐1 in females with hirsutism
Women with hirsutism have different levels of omentin-1, which may be linked to the condition and its genetic aspects.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Mucinosis folicular. Reporte de un caso pediátrico
Follicular mucinosis in a 15-year-old is usually harmless but needs monitoring for possible lymphoma.
research Lupus comédonien
A man was diagnosed with a rare form of lupus after showing unique skin symptoms that responded well to treatment.
research Prevalence and Metabolic Characterization of Polycystic Ovary Syndrome in a Cohort of Patients Diagnosed with Spina Bifida: Study Protocol
PCOS may be linked to spina bifida in young females.
research Polycystic ovary syndrome in men
Men with early balding may have hormonal imbalances similar to women with PCOS and could benefit from similar treatments.
research Association of Early-onset Androgenetic Alopecia and Metabolic Syndrome
Early-onset hair loss in young males is linked to a higher risk of metabolic syndrome.
research Association of early-onset androgenetic alopecia with metabolic syndrome: A case–control study on 46 patients in a tertiary care hospital in South India
Early-onset hair loss may be linked to higher risk of metabolic syndrome.
research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Netherton Syndrome can cause severe skin lesions in rare cases.
research Ovulatory Versus Anovulatory Polycystic Ovary Syndrome Phenotypes: is There Really Any Effect on Laboratory, Clinic and Metabolic Profiles for Turkish Women?
Anovulatory PCOS patients are younger with longer cycles and higher blood pressure and hormone levels.