Search
for
Sort by
Research
900-930 / 1000+ results
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Premarital Counseling in Relation to Common STDs, Andrological and Dermatological Disorders in Menoufia Governorate
Expanding premarital screening to include skin conditions, STDs, infertility, and male disorders can improve marriage stability.
research DIABETES MELLITUS GESTACIONAL: DESFECHOS MATERNO-FETAIS E FATORES DE INFLUÊNCIA
Gestational diabetes increases risks for mothers and babies, needing early diagnosis and care.
research 532P Analyses of patient-reported outcomes (PROs) with mirvetuximab soravtansine (MIRV) versus standard chemotherapy in the randomized phase III FORWARD I study in ovarian cancer (GOG 3011)
Mirvetuximab soravtansine improves quality of life and reduces symptoms more than standard chemotherapy in ovarian cancer patients.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research 457 Impact of alpha-melanocyte-stimulating hormone on mitochondrial function in human dermal fibroblasts
Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research Ultrastructure of Follicular Mucinosis
Follicular mucinosis causes significant damage to hair follicle cells.
research Shared medical appointments for female pattern hair loss
SMAs improve patient satisfaction and may be cost-effective for female hair loss.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research 287 Mackerel fermented fish oil suppresses human keratinocyte damage caused by ultraviolet B radiation
Mackerel fermented fish oil protects skin cells from damage by UVB light.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research PILOMATRIXOMA OF FACE PRESENTING AS PAROTID SWELLING
A young woman had a rare, usually non-cancerous tumor on her face that was initially mistaken for a different condition.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Antioxidant and 5α-Reductase Inhibitory Activity of Momordica charantia Extract, and Development and Characterization of Microemulsion
Bitter melon extract may help prevent hair loss and can be used in cosmetic products.
research Maternal nutrition at conception modulates DNA methylation of human metastable epialleles
A mother's diet at conception can cause lasting genetic changes in her child.
research DENOUEMENT—CONTINUED FROM P. 661
Tinea faciei should be considered in neonatal vesicular lesions and confirmed with KOH examination and culture.