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.
Search
for
Sort by
Research
30-60 / 1000+ results 
research A National Ethics Committee: Findings on Health Issues and Recommendations
Taking calcium may help elderly with osteoporosis, birth control with levonorgestrel doesn't increase heart attack risk, Salmonella can cause arthritis, a national ethics committee is recommended, and sulfasalazine might help with a hair loss condition.
research Disorders of the Hair and Nails
The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Literature Review on Atopic Dermatitis and Related Studies
Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
research The Spectrum of Skin Disease Among Indian Children
The most common skin problems in Indian children are infections and eczemas.
research Differential Diagnosis of Hair Loss in Children
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research Secondary Cicatricial and Other Permanent Alopecias
The document says that treating the root cause of hair follicle damage is crucial to prevent permanent hair loss, and treatment options vary.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Male Androgenetic Alopecia
Male androgenetic alopecia involves hair follicle miniaturization due to DHT, with potential treatments using inhibitors and blockers.
research British Association of Dermatologists Guidelines on the Efficacy and Use of Acitretin in Dermatology
Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
research Female Pattern Hair Loss in Complete Androgen Insensitivity Syndrome
Hair loss in women may have causes other than hormones.
research Male Androgenetic Alopecia
DHT, a testosterone byproduct, causes male pattern baldness.
research Men With Kennedy Disease Have a Reduced Risk of Androgenetic Alopecia
Men with Kennedy disease have less chance of hair loss.
research Cutaneous Androgen Metabolism: Basic Research And Clinical Perspectives
Creating stronger blockers for skin enzymes might lead to better treatment for conditions like acne and excessive hair growth.
research Significance of Iron Status in Hair Loss in Women
Iron deficiency might contribute to hair loss in women.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Hair and Nail Disorders of Childhood
The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
research Phototherapy of Androgenetic Alopecia with Low Level Narrow Band 655-nm Red Light and 780-nm Infrared Light
Red and infrared light therapy improves hair growth in balding patients.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Trichodystrophies: A Hair-Raising Differential Diagnosis
The guide helps doctors diagnose hair problems by suggesting a thorough patient history, physical exams, and various diagnostic tools.
research Eruptive Vellus Hair Cysts Treated With Lactic Acid: Case Report and Review of the Literature
Lactic acid cream can help improve skin bumps known as eruptive vellus hair cysts.
research An Unusual Case of Increased Hair Pigmentation in Previously Grey-White Hair
A 73-year-old man's grey-white hair turned dark brown after eczema treatment.
research Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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 From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.