research THE KAINAR SYNDROME : HISTORY AND MODERN UNDERSTANDING
Kainar syndrome symptoms may be linked to nuclear test exposure effects.
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research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Evaluation of a new X-ray fluorescent analysis technique for the creation of a Nordic hair database: elemental distributions within the root and the virgin segment of hair fibers.
The new X-ray technique allows for precise and non-destructive measurement of elements in hair, creating the first database of its kind for a specific ethnic group.
research Antimüllerian hormone to determine polycystic ovarian morphology
A blood test level of 3.2 ng/mL of Antimüllerian hormone is good for identifying polycystic ovarian morphology in European women aged 25–45.
research Is Trichoscopy a reliable tool to diagnose early female pattern hair loss?
Trichoscopy effectively diagnoses early female hair loss, but may need scalp biopsy for confirmation.
research P-12 ACTH-INDEPENDENT CUSHING SYNDROME WITH INCONCLUSIVE ADRENAL CT SCAN RESULTS
Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Reimagining Hair Science: A New Approach to Classify Curly Hair Phenotypes via New Quantitative Geometrical & Structural Mechanical Parameters
A new system for classifying curly hair types using precise measurements can improve hair care products and cultural inclusion.
research Epithelial expression of cytokeratins 15 and 19 in vitiligo
Cytokeratins 15 and 19 may help track vitiligo treatment progress.
research Differential Gene Expression Screening Between Black and Gray Hairs Using Subtractive Library and DNA Chip
Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research A guide for building biological pathways along with two case studies: hair and breast development
The document explains how to create detailed biological pathways using genomic data and tools, with examples of hair and breast development.
research Trichoscopy for common hair loss diseases: Algorithmic method for diagnosis
The conclusion is that an algorithm using trichoscopy helps diagnose different types of hair loss but may need updates and a biopsy if results are unclear.
research The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Lentiviral Arrays for Live-cell Dynamic Monitoring of Gene and Pathway Activity During Stem Cell Differentiation
The lentiviral array can monitor and predict gene activity during stem cell differentiation.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Phenotype-Specific Lifestyle Prediction for PCOS Using Machine Learning Multi-Class Classification and SHAP Explainability
Machine learning can accurately predict PCOS phenotypes using lifestyle and symptom data.
research 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 Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Correlation of Trichoscopic Findings with Severity in Androgenetic Alopecia
Trichoscopy effectively diagnoses and assesses the severity of androgenetic alopecia.
research Evolution and genetic architecture of sex-limited polymorphism in cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. II. Practical application of electrophoretic analysis of hair protein to forensic hair comparisons.
Electrophoresis can effectively analyze hair proteins for forensic use, even after cosmetic treatments and up to 2 years of weathering.
research Exact, time-independent estimation of clone size distributions in normal and mutated cells
A new method accurately estimates clone sizes in cells without considering time.
research TRICHOSCOPY IN ALOPECIA AREATA : A SUPER TOOL FOR DIAGNOSIS
Trichoscopy is a useful and affordable tool for diagnosing Alopecia areata.
research A rational approach to the diagnosis of polycystic ovarian syndrome during adolescence
Diagnosing PCOS in teenagers should focus on signs of excess male hormones and not rely solely on ovarian ultrasound or irregular periods, and should be reassessed in adulthood.