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Showing articles 0 to 24 of 24

Filter Applied: genetic screening (Click to remove)

The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011

The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006

Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997

Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992

The Psychological Consequences of Predictive Testing for Huntington's Disease
NEJM 327:1401-1405, 14491992., Wiggins,S.,et al, 1992

Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012

Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007

Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005

Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004

What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999

Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995

The Neurogenetic Genie:Testing for Huntington's Disease Mutation
Neurol 44:1369-1373, 1533-15361994., Hersch,S.,et al, 1994

A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994

Attitudes Toward Direct Predictive Testing for the Huntington Disease Gene
JAMA 270:2321-2325, Babul,R.,et al, 1993

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

Presymptomatic Testing for Huntington's Disease in the United Kingdom
BMJ 304:1593-1596, Tyler,A.,et al, 1992

Genetic Testing for Huntington's Disease
BMJ 300:1089-1090, Harper,P.,et al, 1990

Predictive Testing for Huntington's Disease, Progress and Problems
BMJ 298:404-405, 1989, Harper,P.S.&Morris,M.J., 1989

Uptake of Presymptomatic Predictive Testing for Huntington's Disease
Lancet 2:603-605, Craufurd,D.,et al, 1989

Presymptomatic Detection of Huntington's Chorea
BMJ 540, 1972 Sept., , 1972

Use of L-Dopa in the Detection of Presymptomatic Huntington's Chorea
NEJM 286:1332, Klawans,H.,et al, 1972

Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966



Showing articles 0 to 24 of 24