research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
Search
for
Sort by
Research
60-90 / 1000+ results research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Asymptomatic Hyperprolactinemia Resulting from Macroprolactinemia
Some patients with high prolactin levels don't show symptoms because they have a form of the hormone that's less active.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Pseudopelade: An Inherited Alopecia
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research Temporal Triangular Alopecia and a Review of 52 Past Cases
Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
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 Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research The Friar Tuck Sign in Trichotillomania
An 8-year-old boy with hair-pulling disorder had a bald patch that was confirmed not to be a fungal infection and was treated with therapy.
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 Diseases That Affect the Pinna
The document describes skin diseases affecting the outer ear in dogs and cats, their spread to other body parts, and treatment options.
research Becker Nevus Syndrome
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Case Series of Familial Frontal Fibrosing Alopecia and a Review of the Literature
Familial frontal fibrosing alopecia affects premenopausal women too, and early diagnosis is important, but no proven medication exists yet.
research Central Centrifugal Cicatricial Alopecia: Possible Familial Aetiology in Two African Families from South Africa
The conclusion is that hair loss from CCCA may be genetic and not solely caused by hair grooming practices.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Analysis of Familial Factors Using the Basic and Specific (BASP) Classification in Korean Patients with Androgenetic Alopecia
Familial factors affect hair loss types in Koreans, with M type in men, L type in women, and paternal factors influencing male hair loss more.
research Familial Frontal Fibrosing Alopecia Treated With Dutasteride, Minoxidil, and Artificial Hair Transplantation
Treatment with dutasteride, minoxidil, and artificial hair transplantation improved appearance but caused folliculitis.
research Familial Hypertriglyceridemia in Pregnancy
HIV-positive pregnant women are more likely to experience severe bleeding, and a pregnant woman with familial hypertriglyceridemia had a successful early delivery with special care.
research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research New Familial Association Between Ocular Coloboma and Loose Anagen Syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Cantú Syndrome with Coexisting Familial Pituitary Adenoma
Cantú syndrome may be linked to pituitary adenomas.
research A New Topical Formulation of Minoxidil and Finasteride Improves Hair Growth in Men with Androgenetic Alopecia
MorrF improves hair growth better than minoxidil alone.
research Efficacy and Safety of a New 5% Minoxidil Formulation in Male Androgenetic Alopecia: A Randomized, Placebo-Controlled, Double-Blind, Noninferiority Study
New 5% minoxidil formula safely and effectively treats male hair loss.
research Integrating Herbal Components Into Pharmaceutical Formulations for Hair Woes
Herbal ingredients like aloe vera and hibiscus can help with hair problems like hair loss and dandruff.
research Identification of Familial Infections Using Multilocus Microsatellite Typing in Tinea Corporis Due to Microsporum Canis
A mother and her two daughters got a skin infection from their cat.
research Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D
A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.