Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
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Midbrain Myasthenia:Fatigable Ptosis, 'Lid Twitch'Sign, and Ophthalmoparesis From a Dorsal Midbrain Glioma
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Dystrophinopathy in Isolated Cases of Myopathy in Females
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Detection of Duchenne and Becker MD Carriers by Quant Multiplex Polymerase Chain Reaction
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Mosaic Express of Dystrophin in Carriers of Becker's Muscular Dyst & X-Linked Synd of Myalgia & Cramps
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Emergence of Optic Pathway Gliomas in Children with Neurofibromatosis-1 After Normal Neuroimaging
J Pediatr 121:584-587, Listernick,R.,et al, 1992
Diagnostic Outcome in Children with Mutliple Cafe au Lait Spots
Pediatrics 90:924-927, Korf,B.R., 1992
Recent Progress Toward Understanding the Molecular Biology of Von Recklinghausen Neurofibromatosis
Ann Neurol 31:555-561, Gutmann,D.H.&Collins,F.S., 1992
Evolution of White Matter Lesions in Neurofibromatosis Type 1:MR Findings
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
Neurol 41:1923-1927, Pulst,S.M.,et al, 1991
The Frequency of Patients with Dystrophic Abnormalities in a Limb-Girdle Patient Population
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Lisch Nodules in Neurofibromatosis Type I
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Dystrophin Analysis in Duchenne & Becker Muscular Dystrophy Carriers:Correl with Intracellular Calcium & Albumin
Ann Neurol 28:674-679, Morandi,L.,et al, 1990
Direct Diagnosis of Carriers of Duchenne & Becker Muscular Dystrophy by Amplification of Lymphocyte RNA
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Neurofibromatosis Type I in Children
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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High-Intensity Basal Ganglia Lesions on T1-Weighted MR Images in Neurofibromatosis
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Duchenne Muscular Dystrophy Carrieris
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A New Sign of Neurofibromatosis on Magnetic Resonance Imaging of Children
Arch Neurol 46:1222-1224, Goldstein,S.M.,et al, 1989
Mosaic Expression of Dystrophic in Symptomatic Carriers of Duchenne's Muscular Dystrophy
NEJM 320:138-142, Arahata,K.,et al, 1989
Occurrence of Both Neurofibromatosis 1 and 2 in the Same Individual with a Rapidly Progressive Course
Neurol 39:282-283, Sadeh,M.,et al, 1989
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Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
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Optic Gliomas in Children with Neurofibromatosis Type 1
J Pediatr 114:788-792, Listernick,R.,et al, 1989
The Diagnosis of Neurofibromatosis-1 in the Child Under the Age of 6 Years
Am J Dis Child 143:717-719, Obringer,A.C.,et al, 1989
Neurofibromatosis Type 1 (Recklinghausen's Disease) , Neurologic and Cognitive Assessment
Am J Dis Child 143:833-837, Eldridge,R.,et al, 1989
Duchenne Muscular Dystrophy Manifesting Carriers
Arch Neurol 46:673-675, Barkhaus,P.E.&Gilchrist,J.M., 1989
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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Neurofibromatosis Types 1 and 2:Cranial MR Findings
Radiology 172:527-534, Aoki,S.,et al, 1989
DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989
The Significance of MRI Abnormalities in Children with Neurofibromatosis
Neurol 39:373-378, Duffner,P.K.,et al, 1989
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988
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Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
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Genetic Markers for Neurofibromatosis
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Symptomatic Hydrocephalus:Initial Findings in Brainstem Gliomas not Detected on Computed Tomographic Scans
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Neurofibromatosis
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Prenatal Diagnosis & Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy
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The Different Forms of Neurofibromatosis
BMJ 294:1113-1114, Huson,S.W., 1987
New Hope for Neurofibromatosis? The Mast Cell Connection
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Craniocervical Manifestations of Neurofibromatosis:MR Versus CT Studies
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Preventive Screening for the Fragile X Syndrome
NEJM 315:607-609, Turner,G.,et al, 1986
Long-Term Follow-Up of Von Recklinghausen Neurofibromatosis, Survival & Malignant Neoplasms
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Akathisia-Or not Sitting
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Inherited Multiple Meningiomas:A Clinical, Pathological & Cytogenetic Study of an Affected Family
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The Value of Visual Evoked Potential as a Screening Test in Neurofibromatosis
Arch Neurol 42:1072-1074, Jabbari,B.,et al, 1985
Prenatal Diagnosis & Carrier Detection of Duchenne Muscular Dystrophy with Closely Linked RFLPs
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