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.
Search
for
Sort by
Research
60-90 / 1000+ results 
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research A STUDY OF CLINICAL PARAMETERS IN THE DIAGNOSIS OF POLYCYSTIC OVARIAN SYNDROME
Evaluating various physical and health factors helps diagnose polycystic ovarian syndrome (PCOS).
research Evaluation of metabolic and hormonal parameters in women with PCOS living in Black Sea Region
Women with PCOS have a higher risk of metabolic syndrome and need lifestyle changes and treatment.
research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research P138 Hormonal parameters in androgenetic alopecia of the male
Hormonal differences affect male pattern baldness.
research Cardiac flow parameters with conventional and pulsed tissue Doppler echocardiography imaging in patients with polycystic ovary syndrome
Young women with PCOS and no other heart risk factors have normal heart function.
research Evaluation of sensory parameters and tensile strength on damaged hair after ten washes with Mintop shampoo: in vitro study
Mintop shampoo improved hair smoothness, shine, and strength after ten washes.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Quantification of hair follicle parameters using computer image analysis: A comparison of androgenetic alopecia with normal scalp biopsies
Hair follicles are smaller in people with androgenetic alopecia compared to those with normal scalps.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Evaluation of biophysical skin parameters and hair changes in patients with acne vulgaris treated with isotretinoin, and the effect of biotin use on these parameters
Biotin supplementation during isotretinoin treatment for acne may help maintain skin hydration and improve hair growth.
research Clonal expansion from standing genetic variation underpins the evolution of an emerging plant pathogen in Australia
The plant pathogen in Australia evolves through existing genetic variation, not new genotypes.
research Transcriptome analysis reveals the genetic basis underlying the development of skin appendages and immunity in hedgehog (Atelerix albiventris)
Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
research Variations in anterior segment parameters among different phenotypes of polycystic ovary syndrome
PCOS may increase eye pressure and corneal thickness, affecting eye health.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
research The Comparison of Metabolic Syndrome Parameters, Trichoscopic and Trichoscan Characteristics in Androgenetic Alopecia (AGA) and Early-Onset Androgenetic Alopecia (Early-Onset AGA)
Early-onset AGA shows different hair and metabolic characteristics compared to normal-onset AGA.
research Evaluation of Biochemical and Hematological Parameters in Polycystic Ovarian Syndrome Among Urban College Girls
Polycystic Ovarian Syndrome is common in overweight urban college girls and may increase the risk of heart and metabolic problems.
research Transcriptome analysis reveals the genetic basis underlying the development of skin appendages and immunity in hedgehog (Atelerix albiventris)
The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
research Improving human forensics through advances in genetics, genomics and molecular biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research Molecular epidemiology of hypospadias: Review of genetic and environmental risk factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research Thrombin activatable fibrinolysis inhibitor and other hemostatic parameters in patients with polycystic ovary syndrome
Women with PCOS have higher levels of certain blood clotting factors, suggesting a greater risk of cardiovascular issues.
research Impact of Microbial Infection on Sperm Parameters of Seminal Bacteria in Asymptomatic Subfertile Males
Seminal bacteria can lower sperm quality in subfertile men.
research Comparison of metformin and N-acetylcysteine on metabolic parameters in women with polycystic ovarian syndrome
N-acetylcysteine was more effective and had fewer side effects than metformin for improving insulin resistance in women with PCOS.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.
research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
The research identified new skin traits in mice, some linked to human skin conditions.
research 0915 Sleep in Rheumatoid Arthritis: A Systematic Review and Meta-analysis of Objective Sleep Parameters
People with rheumatoid arthritis have poorer sleep quality than healthy individuals.
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 Effect of essential oil and powders of Tithonia diversifolia on the growth parameters and yield of rice in the field
Using Tithonia diversifolia can boost rice growth and yield.