Search
for
Sort by
Research
90-120 / 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 Importance of vascular patterns in the dermoscopy recognition of cutaneous tumors
Vascular patterns in dermoscopy help tell apart malignant and benign skin tumors.
research Molecular mechanisms of asymmetric divisions in mammary stem cells
Disruptions in mammary stem cell division can lead to cancer, but targeting these processes might help treat breast cancer.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research LB1076 Using the frog embryonic epidermis as a model to study desmosome function during development
Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Salivary Gland Choristoma (Heterotopic Salivary Gland Tissue) on the Anterior Chest Wall of a Newborn
A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Heterotypic cell contacts and basal lamina morphology during hair follicle development in the mouse: a light, scanning, and electron microscopic study at the site of tissue interaction
Heterotypic cell contacts likely help hair matrix cells differentiate during mouse hair follicle development.
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 Bone marrow-derived vasculogenesis leads to scarless regeneration in deep wounds with periosteal defects
Using gelatin sponges for deep skin wounds helps bone marrow cells repair tissue without scarring.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research 874 Mesothelioma of the Tunica Vaginalis Testis: A Clinicopathologic Study of 14 Patients with Evaluation of Markers of Mesothelial Malignancy
Mesothelioma of the tunica vaginalis testis is rare, often high-grade, and has a median survival of about 24 months.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Shaping epithelial tissues by stem cell mechanics in development and cancer
research Hemidesmosomes and Notch signaling regulate epidermal differentiation via delamination
Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research 210 THE NEW APPROACH TO EARLY DIAGNOSIS OF ADENOMYOSIS
A new method can almost perfectly distinguish adenomyosis from similar conditions using blood tests.
research The Distribution of Preputial Vessels in Different Severity of Rat Congenital Hypospadias Model: Imaging study using Micro-Computerized Tomograph
The junction of the inner and outer prepuce with good blood flow is best for vascular pedicle flaps.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Merkel cell differentiation in trichoblastoma
Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
research Ovarian Hemangioma: a rare entity
Ovarian hemangioma is a rare, benign tumor that can be treated effectively with surgical removal.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.