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Genetics / Autism / Mutation / Fragile X syndrome / Pediatrics / FMR1 / Sherman paradox / Fragile X-associated tremor/ataxia syndrome / Trinucleotide repeat disorder / Health / Biology / Medicine


ACMG Practice Guideline October 2005 䡠 Vol. 7 䡠 No. 8 Fragile X syndrome: Diagnostic and carrier testing Stephanie Sherman, PhD1,2, Beth A. Pletcher, MD1,3, and Deborah A. Driscoll, MD1,4
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Document Date: 2007-05-14 19:25:00

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City

Baltimore / New York / /

Company

Johns Hopkins University Press / Taylor SA. / GE / McGraw-Hill / CVS / /

Facility

American College of Medical Genetics / PA American College of Medical Genetics / Rockville Pike / Hall DA / American College of Medical Genetics October / Pennsylvania Medical Center / /

IndustryTerm

well-defined clinical research protocol / carrier fathers / mutation carrier women / premutation carrier population / carrier men / carrier testing / carrier woman / high carrier frequency compares / carrier status / mosaic pre/full mutation carrier / carrier screening / gene product / premutation carrier status / individual carrier / detectable product / carrier mothers / medical genetic services / /

MedicalCondition

dementia / tremor/ataxia syndrome / late onset neurodegenerative disorder / late onset disorder / Ovarian dysfunction / mild mental retardation / intention tremor / combined tremor / undiagnosed mental retardation / peripheral neuropathy / Tremor / X syndrome / early onset disorder / lower limb proximal muscle weakness / late onset disorders / ataxia / cerebellar ataxia / infertility / inherited mental retardation / mental retardation / parkinsonism / premature ovarian failure / X premutation tremor/ataxia syndrome / namely / overt mental retardation / autism / isolated cognitive impairment / intentional tremor / Inherited Disease / movement disorders / fragile X-associated tremor/ataxia syndrome / short-term memory loss / late onset intention tremor / syndrome / /

MedicalTreatment

clinical research protocol / counseling / in vitro fertilization / /

Organization

Johns Hopkins University / Pennsylvania Medical Center / PA American College / Professional Practice and Guidelines Committee / the American College / 2Emory University / Atlanta / /

Person

Beth A. Pletcher / Stephanie Sherman / Deborah A. Driscoll / Warren / /

Position

counsel / /

Technology

human genome / well-defined clinical research protocol / /

URL

www.geneticsinmedicine.org / /

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