Results 41 to 50 of about 133,687 (306)
BMC Genomics, 2022 Background The broad application of high-resolution chromosome detection technology in prenatal diagnosis has identified copy number loss (CNL) involving autosomal dominant (AD) genes in certain fetuses.
Lin Chen +6 more
doaj +1 more source
Frontiers in Molecular Biosciences, 2021 Applying single nucleotide polymorphism (SNP) array to identify the etiology of fetal central nervous system (CNS) abnormality, and exploring its association with chromosomal abnormalities, copy number variations, and obstetrical outcome.
Meiying Cai +3 more
doaj +1 more source
Developmental toxicity of combined ethylbenzene and methylethylketone administered by inhalation to rats [PDF]
, 2006 Pregnant Sprague–Dawley rats were exposed to ethylbenzene (EB; 0, 250, or 1000 ppm) and methylethylketone (MEK; 0, 1000, or 3000 ppm), alone and in combination, by inhalation, for 6 h/day, during days 6–20 of gestation.
Bourges-Abella, Nathalie +6 more
core +1 more source
Timing of maternal exposure and fetal sex determine the effects of low-level chemical mixture exposure on the fetal neuroendocrine system in sheep [PDF]
, 2016 We have shown that continuous maternal exposure to the complex mixture of environmental chemicals (ECs) found in human biosolids (sewage sludge), disrupts mRNA expression of genes crucial for development and long-term regulation of hypothalamo-pituitary ...
Bellingham, M. +7 more
core +2 more sources
Molecular Genetics & Genomic Medicine, 2019 Background The implementation of molecular karyotyping has resulted in an improved diagnostic yield in the genetic diagnostics of congenital anomalies, detected prenatally or after the termination of pregnancy.
Gorazd Rudolf +4 more
doaj +1 more source
Delleman (Oculocerebrocutaneous) Syndrome: Case report
Indian Journal of Ophthalmology, 2014 Delleman syndrome is an unusual entity, characterized by ocular cysts or microphthalmia, focal dermal anomalies and cerebral malformations. In the following article, we carry out a review of the disease and we present the case of a patient with ...
Tomás Ortiz-Basso +3 more
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Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21 [PDF]
, 2018 Purpose: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies.
Bugiani, M. (Marianna) +6 more
core +2 more sources
Comparing measurement techniques of accommodative amplitudes
Indian Journal of Ophthalmology, 2014 Aim and Background: This study was designed to compare four standard procedures, for determining the monocular accommodative amplitudes. Materials and Methods: Fifty-two students participated in this analytical-descriptive study. Accommodative amplitudes
Hamed Momeni-Moghaddam +2 more
doaj +1 more source
A rare case of bilateral optic nerve sheath meningioma
Indian Journal of Ophthalmology, 2014 A 60-year-old female presented with gradual, painless, progressive diminution of vision, and progressive proptosis of left eye since 7 years. Ophthalmological examination revealed mild proptosis and total optic atrophy in the left eye. Magnetic resonance
Somen Misra +3 more
doaj +1 more source
Ectopic intraocular lens: An unusual complication of cataract surgery
Indian Journal of Ophthalmology, 2014 We wish to report an unusual complication of intraocular lens (IOL) insertion following uneventful phacoemulsification. After successful phacoemulsification surgery, a hydrophobic acrylic IOL was loaded in the injector for insertion into the capsular bag.
Mehul A Shah +2 more
doaj +1 more source