research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
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research Abstracts of 28th Annual Meeting of Turkish Society of Neuroradiology with International Participation, Conrad Istanbul Bosphorus, Istanbul, Turkey, February 15-17, 2019
MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
research Extra-Intestinal Manifestation of Celiac Disease in Children
Early diagnosis and a strict gluten-free diet are crucial for children with celiac disease to improve symptoms.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Ptosis in Childhood: Causes, Clinical Presentations, and Management
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Differences in Reproductive Toxicology Between Alopecia Drugs: An Analysis on Adverse Events Among Female and Male Cases
Finasteride has a higher risk of reproductive side effects than minoxidil.
research Hair Loss in Children: Diagnosis and Treatment
The document concludes that accurate diagnosis of hair loss in children is crucial due to limited treatment options and the condition's psychological impact.
research Ectodysplasin Research: Where to Next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Evaluation of Clinical and Oral Findings in Patients With Epidermolysis Bullosa
People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
research 46,XY DSD Due to Impaired Androgen Production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Hair Shaft Structures in EDAR Induced Ectodermal Dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Nuclear Factor I-C Promotes Proliferation and Differentiation of Apical Papilla-Derived Human Stem Cells In Vitro
NFIC helps human dental stem cells grow and become tooth-like cells.
research Circadian Clock-Mediated Control of Stem Cell Division and Differentiation: Beyond Night and Day
The circadian clock is crucial for tissue renewal and regeneration, affecting stem cell functions and having implications for health and disease.
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 To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Post-Finasteride Syndrome: An Emerging Clinical Problem
Post-finasteride syndrome causes lasting sexual, neurological, and physical side effects in some people after taking finasteride.
research Hair Organ Regeneration Via Bioengineered Hair Follicular Unit Transplantation
Scientists successfully created and transplanted bioengineered hair follicles that function like natural ones, suggesting a new treatment for hair loss.
research Pubic Hair Removal: Pearls and Pitfalls
Shaving caused a mild, itchy pubic rash with small bumps and crusts.
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 Dusko Ilic Explores the Latest Developments in the Field of Stem Cell Research and Regenerative Medicine
Stem cell research and regenerative medicine have made significant advancements in treating various diseases and conditions.
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 Rhamnose-Mediated Modulation of Hair Follicle Growth: Insights from Chemical Genomics
Rhamnose may help hair growth and pigmentation, making it a potential treatment for hair loss.
research Minoxidil
Minoxidil is effective for hair growth and safe for long-term use.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Hormone Therapy for Transgender Patients
Hormone therapy is essential for transgender individuals but requires careful management due to possible metabolic effects.
research Hepatitis C-Related Mixed Type Vitiligo in a Patient with Ivemark Syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research Distinct Tooth Regeneration Systems Deploy a Conserved Battery of Genes
Different species use the same genes for tooth regeneration.
research Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7
The guidelines recommend informed consent for gender-affirming treatments and stress the importance of personalized, culturally sensitive care for transgender individuals.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.