- FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndromeM T Abrams
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21201, USA
Am J Med Genet 82:25-30. 1999..This report further demonstrates the feasibility of using ON samples to evaluate the FMR1 mutation in humans in vivo...
- Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndromeW E Kaufmann
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Am J Med Genet 83:286-95. 1999..Furthermore, our unexpected finding of FMRP-ir in all males with FM suggests that most of them are not transcriptionally silent...