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Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
Eye Abnormalities (9):
Recent article
Eye Abnormalities
Abstract
We studied the influences of dietary LC-PUFAs in dams (C57BL/6 and C3H/He) on the eye morphogenesis and organogenesis of their pups. Intriguingly, fetuses and newborn mice from C57BL/6 dams fed an LC-PUFA (particularly ARA)-enriched diet displayed a much higher incidence of eye abnormalities such as...
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PMID: 20951676
PDF is available here.
PDF is available here.
| < More recent | Older article > |
Abstract
We studied a patient with bilateral cleft 10 associated with ocular abnormalities.
Clinical report with orbital and cranial computed tomography.
After pregnancy complicated by oligohydramnios, digoxin, and lisinopril exposure, a boy was born with facial and ocular dysmorphism. Examination at age 26...
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PMID: 20856062
PDF is available here.
PDF is available here.
Abstract
We present qualitative and quantitative data about the oculo-orbital region to demonstrate these differences. Although ocular protosis and hypertelorism characterize both disorders, the nature of the orbital dystopia differs. In Crouzon syndrome, ocular proptosis is primarily caused by retrusion of...
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PMID: 20856021
PDF is available here.
PDF is available here.
Abstract
A girl was born with sclerocornea of the right eye, corneal staphyloma of the left eye and lumbar myelomeningocele. The myelomeningocele was repaired soon after birth. The corneal staphyloma was perforated during infancy. She received keratoplasty and achieved light perception. Her right kidney reve...
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PMID: 20424881
PDF is available here.
PDF is available here.
Abstract
Although there is an increased risk for visual impairment among children born after IVF, the individual risk is small and may be secondary to parental characteristics. No increased risk for eye malformations was found.
2010 Elsevier Inc. All rights reserved....
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PMID: 20447615
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
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PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed...
|
PMID: 20506283
PDF is available here.
PDF is available here.
Abstract
Abstract
Abstract
We report the case of a neonate who presented with unilateral retinoblastoma and Peters anomaly. Retinoblastoma arises from a deregulation of cellular events secondary to inactivation of both RB1 gene alleles, whereas Peters anomaly has been linked to eye-development genes and chromosomal anomalies....
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PMID: 20451864
PDF is available here.
PDF is available here.
Abstract
We describe a case of unilateral Peters anomaly with previously unreported systemic findings associated with this syndrome. In addition, autopsy findings suggested that severe developmental angle anomalies may be the cause of glaucoma in some of these patients.
Copyright 2010 American Association fo...
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PMID: 20451863
PDF is available here.
PDF is available here.
Clinical Dysmorphology (19)2 2010
Abstract
We report a family in which four members in three generations have typical ocular features of Axenfeld-Rieger syndrome. Two of them, who are siblings, also have congenital heart defects. The congenital heart defect was bicuspid aortic valve anomaly with severe stenosis and mild regurgitation in one...
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PMID: 20179581
PDF is available here.
PDF is available here.
Abstract
Abstract
Carbamazepine is an antiepileptic drug used widely for the treatment of epileptic seizures and neuropathic pain. Several malformations in humans, mainly neural tube defects, have been reported as a consequence of its use during pregnancy. The association between maternal use of carba...
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PMID: 19895254
PDF is available here.
PDF is available here.
Abstract
We report a patient with hereditary lymphedema-distichiasis syndrome and immunoglobulin A nephropathy occurring simultaneously....
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PMID: 20124880
PDF is available here.
PDF is available here.
Abstract
We report a 2-month-old female with general development delay and dysmorphic features. AR anomaly was detected, and a retinoblastoma (RB) was diagnosed in a very early stage. De novo 13q deletion was identified. Systemic chemotherapy, focal cryotherapy, transpupillary thermotherapy, brachytherapy, a...
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PMID: 19927293
PDF is available here.
PDF is available here.
Abstract
A term female infant was evaluated for global developmental delay, hypotonia, hyporeflexia, diffuse weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence of family history or perinatal concerns, an extensive investigation was performed, including lab st...
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PMID: 20215985
PDF is available here.
PDF is available here.
Ophthalmic Genetics (31)1 2010
Abstract
This boy had clinical features similar to patients reported with the 6q terminal deletion syndrome. In addition, he had an unusual ocular motility pattern and thick corneas, features that may be more common than previously recognized. Deleted genes in this area of chromosome 6 may contribute to opht...
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PMID: 20141352
PDF is available here.
PDF is available here.
Abstract
In cases with both lower eyelid retraction and epiblepharon, the retraction should be repaired first, and then the epiblepharon can be corrected selectively according to the severity of the case....
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PMID: 20157407
PDF is available here.
PDF is available here.
Der Ophthalmologe (107)2 2010
Abstract
An 8-year-old boy showed multiple cardiovascular and urinogenital anomalies, neurological problems as well as endocrinological abnormalities even shortly after birth. The patient had ophthalmological peculiarities, such as eyelid cleft configuration, tapetoretinal dystrophy, retinal...
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PMID: 20013277
PDF is available here.
PDF is available here.
Der Ophthalmologe (107)2 2010
Abstract
An 8-year-old boy showed multiple cardiovascular and urinogenital anomalies, neurological problems as well as endocrinological abnormalities even shortly after birth. The patient had ophthalmological peculiarities, such as eyelid cleft configuration, tapetoretinal dystrophy, retinal...
|
PMID: 20013277
PDF is available here.
PDF is available here.
Der Ophthalmologe (107)2 2010
Abstract
An 8-year-old boy showed multiple cardiovascular and urinogenital anomalies, neurological problems as well as endocrinological abnormalities even shortly after birth. The patient had ophthalmological peculiarities, such as eyelid cleft configuration, tapetoretinal dystrophy, retinal...
|
PMID: 20013277
PDF is available here.
PDF is available here.
Der Ophthalmologe (107)2 2010
Abstract
An 8-year-old boy showed multiple cardiovascular and urinogenital anomalies, neurological problems as well as endocrinological abnormalities even shortly after birth. The patient had ophthalmological peculiarities, such as eyelid cleft configuration, tapetoretinal dystrophy, retinal...
|
PMID: 20013277
PDF is available here.
PDF is available here.
Der Ophthalmologe (107)2 2010
Abstract
An 8-year-old boy showed multiple cardiovascular and urinogenital anomalies, neurological problems as well as endocrinological abnormalities even shortly after birth. The patient had ophthalmological peculiarities, such as eyelid cleft configuration, tapetoretinal dystrophy, retinal...
|
PMID: 20013277
PDF is available here.
PDF is available here.
Der Ophthalmologe (107)2 2010
Abstract
An 8-year-old boy showed multiple cardiovascular and urinogenital anomalies, neurological problems as well as endocrinological abnormalities even shortly after birth. The patient had ophthalmological peculiarities, such as eyelid cleft configuration, tapetoretinal dystrophy, retinal...
|
PMID: 20013277
PDF is available here.
PDF is available here.