Newborn Screening for Fragile X Syndrome
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
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Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003
The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
Ann Neurol 42:360-364, Claes,S.,et al, 1997
Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,et al, 1996
Intelligence and the X Chromosome
Lancet 347:1814-1815, Turner,G., 1996
X-Linked Malformation of Neuronal Migration
Neurol 47:331-339, Dobyns,W.B.,et al, 1996
A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995
Rapid Antibody Test for Fragile X Syndrome
Lancet 345:1147-1148, Willemsen,R.,et al, 1995
Advances in Molecular Analysis of Fragile X Syndrome
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Do Young Boys with Fragile X Syndrome have Macroorchidism
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Molecular Genetic Advances in Fragile X Syndrome
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Population Screening for Fragile X
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Mental Retardation in Turner Syndrome
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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Encephalotrigeminal Angiomatosis
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Retinitis Pigmentosa
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Clinicopath Conf
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Preventive Screening for the Fragile X Syndrome
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Preventive Screening for Fragile X Syndrome
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Neurological Findings in Patients with the Fragile-X Syndrome
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Fragile X Syndrome:Associated Neurological Abnormalities & Developmental Disabilities
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Fragile X Chromosome & X-Linked Mental Retardation
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Prenatal Diagnosis of Fragile X Chromosome
Lancet 1:99-100, Shapiro,L.R.,et al, 1982
Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Heterozygous Expression Of X-Linked Mental Retardation & X-chromosome Marker fra (X) (q27)
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X-Linked Mental Retardation
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The Fragile X-Chromosome Mental Retardation & Large Testes
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Neurological Complications of Infantile Osteopetrosis
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Benign Intracranial Cyst, In Neurosurgery of Infancy & Childhood
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An 11-year-old Boy with Language Disorder and Epilepsy
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Sturge-Weber Syndrome
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
Autism and Mental Retardation among Offspring born after In Vitro Fertilization
JAMA 310:75-84, Sandin, S.,et al, 2013
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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