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Blindness / Congenital disorder of glycosylation / Pediatrics / Optic neuropathy / Retinitis pigmentosa / Nystagmus / Glaucoma / Ataxia / Hypotonia / Health / Medicine / Ophthalmology


The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro
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City

Istanbul / Kocaeli / natal / Düzce / /

Company

Google / Human Participants / Creative Commons / BioMed Central Ltd. / /

Country

Turkey / /

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Facility

Boğaziçi University / Istanbul University / /

IndustryTerm

study protocol / online submission / /

MedicalCondition

bilateral keratoconus / glaucoma / congenital cataract / optic atrophy / Congenital colobomas / ocular colobomas / coloboma / optic nerve hypoplasia / JE / congenital glycosylation disorder / retinitis pigmentosa / childhood ichthyosiform dermatitis / polyprenol reductase deficiency / ichthyosiform skin disorders / Movement disorder / severe mental retardation / sepiapterin reductase gene causing parkinsonism / truncal hypotonia / Kahrizi syndrome / novel neurologic disorder / bilateral horizontal nystagmus / Muscle hypotonia / allelic disease / Microcytic anemia / exotropia / likely disease / coloboma / disorder / similar disease / ocular coloboma / clinically recognizable cerebello-ophthalmo-cutaneous syndrome / cardiac abnormalities Contractures / ataxia and mental status / cerebellar ataxia / congenital heart defects / dysmetria / similar diseases / multisystemic disorders / cataracts / disease / bilateral posterior subcapsular cataract / Congenital disorders / iris coloboma / novel cerebello-ocular syndrome / posterior subcapsular cataract / bilateral optic atrophy / kyphosis / allelic disorders / hypertrichosis / strabismus / congenital disorder / autosomal recessive Kahrizi syndrome / autosomal recessive syndrome / ichthyosis / retinitis / cataract / Glycosylation defect Background Congenital disorders / /

Organization

Department of Molecular Biology and Genetics / Kocaeli University Medical Faculty / Department of Pediatrics / Boğaziçi University Research Fund / Düzce University Medical Faculty / Division of Child Neurology / Istanbul University Istanbul Medical Faculty / Boğaziçi University Institutional Review Board for Research / Boğaziçi University / Istanbul / Division of Nutrition and Metabolism / /

Person

Van Ravenswaaij-Arts / /

Position

Dobyns WB / author / Series Editor / /

Product

FS / /

PublishedMedium

Molecular Biology / /

Technology

study protocol / 370 Duo chip / single nucleotide polymorphism / SNP / genotype / /

URL

www.biomedcentral.com/submit / http /

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