Sarah L Nolin

Summary

Publications

  1. doi request reprint Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles
    Sarah 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
  2. doi request reprint 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
  3. ncbi request reprint Fragile X full mutation alleles composed of few alleles: implications for CGG repeat expansion
    Sarah 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
  4. doi request reprint 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
  5. pmc Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
    Sarah 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
  6. doi request reprint 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
  7. ncbi request reprint 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
  8. doi request reprint 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

Detail Information

Publications8

  1. doi request reprint Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles
    Sarah 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...
  2. doi request reprint 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...
  3. ncbi request reprint Fragile X full mutation alleles composed of few alleles: implications for CGG repeat expansion
    Sarah 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...
  4. doi request reprint 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...
  5. pmc Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
    Sarah 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...
  6. doi request reprint 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...
  7. ncbi request reprint 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...
  8. doi request reprint 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...