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Genetic genealogy / Neuro-cardio-facial-cutaneous syndromes / Syndromes / Neurological disorders / Developmental neuroscience / LEOPARD syndrome / Neurofibromatosis type I / Noonan syndrome / Neurofibroma / Medicine / Health / Genodermatoses


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

Helsinki / Paris / Naples / Chicago / /

Company

Google / NF1 / Creative Commons / BioMed Central Ltd. / Roberts AE / /

Country

Italy / France / /

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Facility

Second University of Naples / Santobono Children’s Hospital / Monaldi Hospital / /

IndustryTerm

nosologic / online submission / /

MedicalCondition

cutaneous neurofibromas / Recklinghausen disease / hypertrophic cardiomyopathy / JE / headache / genetically overlapping disorders / Cardio-facio-cutaneous syndrome / hypertelorism / mitral valve prolapse / pectus excavatum / Noonan syndrome / gingival fibromatosis / RAS/MAPK pathway syndrome / lentigines LEOPARD syndrome / plexiform neurofibromas / benign arrhythmia / deafness / bilateral acoustic neurofibromatosis / neurofibromas / syringomyelia / lipomas / disorder / plexiform neurofibroma / ocular hypertelorism / variable cognitive impairment / NeurofibromatosisNoonan syndrome / Neurofibromatosis-Noonan syndrome / cutaneous and musculoskeletal abnormalities / Obvious hypertelorism / congenital heart defects / Neurofibromatosis Type 1 / peptic ulcer / sensorineural deafness / hydrosyringomyelia / Hereditary / Costello syndrome / cardiomyopathy / Mixed mild deafness / cryptorchidism / CASE REPORT Open Access LEOPARD syndrome / PTPN11 Background Noonan syndrome / boys fulfilling neurofibromatosis / Capillary Malformation-AV malformation syndrome / optic glioma / joint laxity / unilateral cryptorchidism / pterygium colli / Neurofibromatosis / pain / common nevi / pulmonary stenosis / Multiple lentigines syndrome / allelic disorders / RIT1 cause Noonan syndrome / relatively common monogenic disorders / molecular event underlying neurofibromatosis / chest deformity / Autoimmune Lymphoproliferative syndrome / LEOPARD syndrome / syndrome / disorders / genetic disorders / /

MedicalTreatment

surgery / counselling / in vitro fertilization / /

NaturalFeature

ALPS / /

OperatingSystem

LEOPARD / /

Organization

National Institute of Health / NF1 Italian association / National Society of Genetic Counselors / Santobono Children’s Hospital / Monaldi Hospital / Second University of Naples / Hopital Necker / Ethics Committee / /

Person

Arch Neurol / Van Roy / Luigi De Crecchio / Arnold Chiari / Fulvio Della / Enfants Malades / Stanislas Lyonnet / /

Position

Editor / Neurologist / author / Radtke HB / Genet Counsel / General Pathology / /

ProvinceOrState

South Carolina / Nova Scotia / /

RadioStation

Nyström AM / /

Technology

MRI / Neurosurgery / genotype / /

URL

www.biomedcentral.com/submit / http /

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