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Published on BioPortfolio: 2014-10-03T16:35:44-0400
Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients hav...
CMV lesions were found in the olfactory system of children with congenital CMV infection but no study has hitherto examined the impact of congenital CMV infection on olfaction. So the inve...
Evidence of a relationship between age at discovery of congenital glaucoma and visual acuity at 4 years of age. The delay in diagnosis is a factor of poor visual acuity. Will justify the ...
Congenital hyperinsulinism is a rare condition that can cause life-threatening hypoglycemia. Current treatment for congenital hyperinsulinism is often suboptimal, and such individuals may ...
The main objective is to identify the genes involved in congenital dislocation of the hip. The secondary objectives are to measure the association between mechanical risk factors and cong...
To report a case of primary congenital glaucoma associated with paracentral acute middle maculopathy.
Rapidly involuting congenital hemangioma is a subtype of congenital hemangioma. Ulceration and bleeding are rarely reported in rapidly involuting congenital hemangioma, with only four cases reported i...
Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their con...
Recent increases in reported congenital syphilis have led to an urgent need to identify interventions that will have the greatest impact on congenital syphilis prevention. We sought to create a congen...
Congenital myopathies are muscle diseases characterized by specific histopathological features, generalized hypotonia from birth, and perinatal complications, although some cases develop during childh...
Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.
A cytochrome P450 aryl hydrocarbon hydroxylase that has specificity for ESTROGENS which it converts into 4-hydroxy estrogens. CYP1B1 has been shown to be physiologically important for FETAL DEVELOPMENT with mutations in the CYP1B1 gene resulting in congenital forms of GLAUCOMA and Peter's anomaly.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
A cloprostenol derivative that is used as an ANTIHYPERTENSIVE AGENT in the treatment of OPEN-ANGLE GLAUCOMA and OCULAR HYPERTENSION.