The fragile X syndrome: implications of molecular genetics for the clinical syndrome
Open Access
- 1 January 1994
- journal article
- review article
- Published by Wiley in European Journal of Clinical Investigation
- Vol. 24 (1) , 1-10
- https://doi.org/10.1111/j.1365-2362.1994.tb02052.x
Abstract
No abstract availableKeywords
This publication has 73 references indexed in Scilit:
- Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG–repeatNature Genetics, 1993
- A point mutation in the FMR-1 gene associated with fragile X mental retardationNature Genetics, 1993
- Segregation of the fragile X mutation from an affected male to his normal daughterHuman Molecular Genetics, 1992
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Absence of expression of the FMR-1 gene in fragile X syndromeCell, 1991
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991
- Fragile X syndromeThe Journal of Pediatrics, 1987
- Preventive Screening for the Fragile X SyndromeNew England Journal of Medicine, 1986
- Second international workshop on the fragile X and on X‐linked mental retardationAmerican Journal of Medical Genetics, 1986
- Further segregation analysis of the fragile X syndrome with special reference to transmitting malesHuman Genetics, 1985