research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
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300-330 / 1000+ resultsresearch Finasteride-associated central retinal vein occlusion
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Videodermoscopy of the hyponychium in nail bed psoriasis
Videodermoscopy can help diagnose and monitor nail bed psoriasis.
research Ocular manifestation in progeria: A case report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research Prevalence of various phenotypes of polycystic ovarian syndrome among high school girls of Shiraz (2009)
Early investigation of PCOS in high school girls is necessary due to associated risks and side effects.
research Strategy for Generating Blinded Evidence for Single-Arm Trials with External Controls Using Expert Review of Home Video
A new method uses expert reviews of home videos to objectively assess children's developmental milestones in single-arm trials.
research OsUEV1B, an Ubc enzyme variant protein, is required for phosphate homeostasis in rice
OsUEV1B protein is essential for controlling phosphate levels in rice.
research Arabidopsis VILLIN4 is involved in root hair growth through regulating actin organization in a Ca2+‐dependent manner
VILLIN4 helps root hair growth by organizing actin with calcium.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Psychometric performance of EQ-5D-5L and SF-6DV2 in measuring health status of populations in Chinese university staff and students
Both EQ-5D-5L and SF-6DV2 are valid for measuring health but can't be used interchangeably.
research Investigation of parental socioeconomic status as a determinant of dietary habits and disease severity of sickle cell disease children
Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
research How I Do It: Ahmad’s NPRT System: A New Classification System for Documenting Male Pattern Baldness
Dr. Muhammad Ahmad created a simpler system to better describe male pattern hair loss.
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 Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research Histidine decarboxylase expression influences the neofolliculogenesis of newborn mouse dermal cells
The gene HDC is important for the development of hair follicles in newborn mice.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research A woman with headaches and blurred vision
The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
research Acquired Generalized Hypertrichosis Due to Diazoxide
A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.
research HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovary syndrome
HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.
research The effects of sonic, desert and Indian hedgehog signalling in skin
Shh and Dhh affect skin development and can cause tumors, while Ihh does not.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research A LONGITUDINAL STUDY OF PUBERTY IN BOYS
research MON-014 Evaluation of Healthcare of Gender-Dysphoric Veterans in the Veterans Affairs Northern California Health Care System (VANCHCS)
Care for gender-dysphoric Veterans can be improved with a consistent, team-based approach.
research Inappropriate Sexual Behaviors in Patients with Vascular Dementia: Possible Response to Finasteride
Finasteride may help reduce inappropriate sexual behaviors in dementia patients with prostate issues.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
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 N1-acetylspermidine is a determinant of hair follicle stem cell fate
N1-acetylspermidine promotes hair follicle stem cell self-renewal.
research Uncombable hair improved by biotin
Biotin supplements significantly improved a young girl's uncombable hair.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.