research A Case of Ayme-Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
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30 / 1000+ results research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Innovations in Chemotherapy and Radiation Therapy: Implications and Opportunities for the Asia-Pacific Rim
New cancer treatments are more precise and less toxic, improving survival rates, but Asia faces challenges in adopting these advancements.
research Perspectives on the Pharmacist’s Product: A Narrative Review
The review concludes that pharmacists should clearly define their product as more than medication, including their knowledge and services, to effectively communicate their value.
research Effectiveness and Safety of Standard Chemotherapy in Older Patients With Ovarian Cancer: A Retrospective Analysis by Age Group and Treatment Regimen
Older ovarian cancer patients live longer and tolerate weekly chemotherapy better than three-weekly treatments.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Updates to Male Infertility: AUA/ASRM Guideline 2024
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Next Generation Human Skin Constructs as Advanced Tools for Drug Development
Advanced human skin models improve drug development and could replace animal testing.
research Drug Repurposing: A Promising Approach for Patients With Angina and Non-Obstructive Coronary Artery Disease (ANOCA)
Using existing drugs for new purposes could be a cost-effective way to treat chest pain and non-clogged heart arteries, with some drugs for lung blood pressure showing promise but needing more testing.
research Study Design for the Stanford Dermatology Personal Genomics Project
The project aimed to understand how genetic test results affect patients' actions and feelings in dermatology.
research Profiling the Response of Human Hair Follicles to Ultraviolet Radiation
UVB radiation harms hair growth and health, causing cell death and other changes in human hair follicles.
research A Genomic Approach to Susceptibility and Pathogenesis Leads to Identifying Potential Novel Therapeutic Targets in Androgenetic Alopecia
Genomic approach finds new possible treatments for hair loss.
research Update on the Genetics of Androgenetic Alopecia, Female Pattern Hair Loss, and Alopecia Areata: Implications for Molecular Diagnostic Testing
Genetic factors affect hair loss, and molecular testing may help predict, diagnose, and treat it.
research CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism?
Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Cognitive Testing of a Survey Instrument for Self-Assessed Menstrual Cycle Characteristics and Androgen Excess
The survey helps identify menstrual irregularities and excess male hormones, aiming to detect conditions like Polycystic Ovary Syndrome.
research Modulation of Genomic and Postgenomic Alterations in Non-Cancer Diseases and Critical Periods of Life
N-acetyl-L-cysteine (NAC) can prevent DNA damage and protect cells from harm.
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 Tale of Two Haplotypes: The EDA2R/AR Intergenic Region Is the Most Divergent Genomic Segment Between Africans and East Asians in the Human Genome
The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
research Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek
The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
research Is Hormone Testing Worthwhile in Patients with Female Pattern Hair Loss?
Hormone testing may not be very helpful in diagnosing female pattern hair loss.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Distinct Phenotypic and Genomic Signatures Underlie Contrasting Pathogenic Potential of Staphylococcus Epidermidis Clonal Lineages
Staphylococcus epidermidis A/C strains are more antibiotic-resistant and infection-adapted, while B strains thrive in hair follicles.
research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research The Role of 3Rs in the Age of One Health: Where We Are and Where We’re Going
Innovative methods are reducing animal testing and improving biomedical research.
research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Mouse Models for the Study of Human Hair Loss
Mice are useful for researching human hair loss and testing treatments, despite some differences between species.