Fragile X AGG analysis provides new risk predictions for 45-69 repeat allelesSarah L Nolin
New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Am J Med Genet A 161:771-8. 2013
..Our results demonstrate that characterization of the AGG structure within the FMR1 repeat allows more accurate risk estimates of repeat instability and expansion to full mutations for intermediate and small premutation alleles...
- Fragile X analysis of 1112 prenatal samples from 1991 to 2010
Sarah L Nolin
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Prenat Diagn 31:925-31. 2011
..To determine risks of expansion for normal, intermediate, and premutation FMR1 CGG repeats...
Fragile X full mutation alleles composed of few alleles: implications for CGG repeat expansionSarah L Nolin
New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA
Am J Med Genet A 146:60-5. 2008
..These studies also have clinical importance because the omission of ethidium bromide will facilitate the diagnosis of females with full mutation alleles...
- Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss
Carl Dobkin
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA
Am J Med Genet A 149:2152-7. 2009
..Moreover, they suggest that the presence of the fragile X full mutation on a chromosome may predispose it to loss during mitosis, possibly due to the altered structure of the metaphase fragile X chromosome...
- Molecular analysis of fragile X syndrome
Sarah L Nolin
Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA
Curr Protoc Hum Genet . 2003
..Extent of amplification and level of methylation can be simultaneously detected. A combination of the two techniques can be used to characterize the genotypes of individual members in identified fragile X families...
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesSarah L Nolin
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Am J Hum Genet 72:454-64. 2003
..9% for 55-59, and 80% for 60-65 repeats). These studies should allow improved risk assessments for genetic counseling of women with premutation or intermediate-size alleles...
- The fragile X mental retardation protein FMRP binds elongation factor 1A mRNA and negatively regulates its translation in vivo
Ying Ju Sung
Department of Anatomy and Cell Biology, Columbia University, New York, NY 10032, USA
J Biol Chem 278:15669-78. 2003
..These data suggest that hFMRP binds to EF-1A mRNA and also strongly argue that FMRP negatively regulates EF-1A expression in vivo...
- Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series
Naomi Yachelevich
The Center for Congenital Disorders, The Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA
Am J Med Genet A 155:870-4. 2011
..Providers should be aware of possible identification of Xq27 deletions as a potential outcome of fragile X screening...
