research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
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research Atrichia With Papular Lesions Confirmed Via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Case Study: Hereditary Cancer Genetic Testing in Unaffected Patients May Allow for Early Intervention and Aggressive Management
Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
research A Genetic Test for Androgenetic Alopecia: Polymorphisms in the Androgen Receptor Gene Provide a Genetic Screening Test for Androgenetic Alopecia and Earlier Medical Intervention
A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
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 Androgenetic Alopecia Risk Identified with Genetic Test
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
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 Testicular Steroidogenesis: Production and Regulation of Testosterone and Dihydrotestosterone
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Genetic Analysis Does Not Confirm Non-Classical Congenital Adrenal Hyperplasia in More Than a Third of Women Followed with This Diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Azathioprine-Induced Severe Myelosuppression Accompanied by Massive Hair Loss and Painful Oral Ulcer in an Autoimmune Hepatitis Patient with NUDT15 Minor Variant: A Case Report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.
research Case of Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
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 Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
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 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 Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Genes of Congenital Dermatologic Disorders in Dogs: A Review
Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
research Salt-Losing Tubulopathy and Chronic Dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Management of Pregnancy in a Carrier of the Donohue Mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
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 A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Birt–Hogg–Dubé Syndrome: A Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research When Acne, Hirsutism, and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
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.
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 Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Genetic Association of HLA-DQB1 and HLA-DRB1 Polymorphisms with Alopecia Areata in the Italian Population
The DQB1*03 allele is linked to higher alopecia areata risk in Italians.