« Previous
Next »
Tzu Chi Medical Journal
Volume 20, Issue 4
, Pages 309-313
, December 2008
Molecular Screening of Fragile X Syndrome in Children with Mental Retardation in Hualien
References
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome . Cell . 1991;65:905–914
- Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers . Hum Mol Genet . 1996;5:727–735
- . Prevalence of fragile X syndrome . Am J Med Genet . 1996;64:196–197
- . The pathophysiology of fragile X syndrome . Annu Rev Genomics Hum Genet . 2007;8:109–129
- . Longitudinal changes in cognitive and adaptive behavior scores in children and adolescents with the fragile X mutation or autism . J Autism Dev Disord . 2002;32:107–114
- . Cognitive variability in the fragile X syndrome . Am J Med Genet . 1987;28:13–15
- Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n . Science . 1991;252:1711–1714
- Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee . Genet Med . 2001;3:200–205
- Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles . Am J Hum Genet . 2003;72:454–464
- Absence of expression of the FMR-1 gene in fragile X syndrome . Cell . 1991;66:817–822
- An effective strategy of using molecular testing to screen mentally retarded individuals for fragile X syndrome . Diagn Mol Pathol . 2001;10:34–40
- Original article pilot screening for fragile X carrier in pregnant women of southern Taiwan . J Chin Med Assoc . 2003;66:204–209
- . FMR1 and the fragile X syndrome: human genome epidemiology review . Genet Med . 2001;3:359–371
- . The high prevalence of fragile X premutation carrier females: is this frequency unique to the French Canadian population? . Am J Hum Genet . 1995;57:991–993
- Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians . Am J Med Genet . 1999;84:191–194
- . A step-wise diagnosis of fragile X syndrome in Taiwan . Acta Paediatr Taiwan . 2004;45:69–72
- Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males . Brain Dev . 1995;17:317–324
- Feasibility of blood spot PCR in large-scale screening of fragile X syndrome in southern Taiwan . J Formos Med Assoc . 2003;102:12–16
- . Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan . Diagn Mol Pathol . 2000;9:75–80
- . Pilot fragile X screening in normal population of Taiwan . Diagn Mol Pathol . 1999;8:152–156
- . Allele distribution at the FMR1 locus in the general Chinese population . Clin Genet . 1999;55:352–355
- . Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies . Eur J Hum Genet . 1999;7:212–216
- Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel . Am J Hum Genet . 2001;69:351–360
- Molecular fragile X screening in normal populations . Am J Med Genet . 1996;64:181–183
PII: S1016-3190(08)60056-7
doi: 10.1016/S1016-3190(08)60056-7
© 2008 Buddhist Compassion Relief Tzu Chi Foundation. Published by Elsevier Inc. All rights reserved.
« Previous
Next »
Tzu Chi Medical Journal
Volume 20, Issue 4
, Pages 309-313
, December 2008
