research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
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research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research Clinical Approaches to PCOS: A Survey of the NASPAG Membership
Doctors vary in how they initially test for PCOS, but most agree on using oral contraceptives and lifestyle changes as first treatments.
research Application of PCR Technique to Detect Polymorphism of the KRTAP1.1 Gene in Three Sheep Breeds - A Review
The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3
A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
research Geometric classification of scalp hair for valid drug testing, 6 more reliable than 8 hair curl groups
A 6-group hair classification is more reliable for drug testing than an 8-group system.
research Comparison of Adhesive Tape Impression Cytology, Hair Plucks, and Fungal Culture for the Diagnosis of Dermatophytosis in Dogs and Cats
Adhesive tape impression is a useful tool for diagnosing dermatophytosis in dogs and cats.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research Kinky Hair Disease. Biochemical, Histochemical, and Ultrastructural Studies
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues
The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
research Live-cell Imaging and Analysis of Germline Stem Cell Mitosis in Caenorhabditis elegans
The protocol allows easy imaging of dividing cells in C. elegans and can be used for other organisms.
research BH04 A global survey to assess practice of laboratory testing in alopecia areata by hair specialists
Dermatologists vary widely in testing practices for alopecia areata, often exceeding guideline recommendations.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research KRT72 wt Allele
KRT72 gene helps form hair.
research Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases
research Diagnosis of polycystic ovaries syndrome: establishment of reference values of nine hormones on Maglumi X- 8
Reference values for nine hormones were established to help diagnose PCOS.
research Utility of GLI1 RNA Chromogenic in Situ Hybridization in Distinguishing Basal Cell Carcinoma From Histopathologic Mimics
GLI1 RNA CISH effectively identifies basal cell carcinoma but is less specific for benign follicular tumors.
research Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family
KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
research Polycystic Ovaries: A Cross Sectional Study on Unmarried Girls in KSA
PCOS affects many young women in KSA, with mild cases being most common.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome
The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.
research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].
research [Analysis of normal human hair keratins by two-dimensional polyacrylamide gel electrophoresis].
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Assessment of diagnostic competence of plasmatic androgens on polycystic ovary syndrome based on receiver operator characteristic curves
Free Testosterone Index, bioavailable testosterone, and androstenedione are the most accurate for diagnosing excess male hormones in PCOS.