Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)
Original languageEnglish (US)
Title of host publicationGenetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition
PublisherWiley-Blackwell
Pages349-364
Number of pages16
ISBN (Print)9781405190879
DOIs
StatePublished - May 18 2010

Fingerprint

Prenatal Diagnosis
Mutation
Fragile X Tremor Ataxia Syndrome

Keywords

  • Amniotic fluid (AF) or chorionic villus sampling (CVS)
  • Clinical phenotype in premutation
  • Fragile X mental retardation 1 (FMR1) gene, premutation and full mutation
  • Fragile X-associated tremor/ataxia syndrome (FXTAS)
  • Molecular prenatal diagnosis methodology
  • Permutation pathogenesis-associated disorder, fragile X-associated tremor/ataxia syndrome
  • Preimplantation genetic diagnosis (PGD) utilizing polar body analysis
  • Prenatal diagnosis and spectrum of involvement from fragile X mutations
  • Primary ovarian insufficiency (POI)-women becoming pregnant
  • Screening women with POI onset before 40-ruling out fragile X-associated POI

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Hagerman, R. J., Narcisa, V., & Hagerman, P. J. (2010). Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition (pp. 349-364). Wiley-Blackwell. https://doi.org/10.1002/9781444314342.ch9

Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations. / Hagerman, Randi J; Narcisa, Vivien; Hagerman, Paul J.

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. Wiley-Blackwell, 2010. p. 349-364.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hagerman, RJ, Narcisa, V & Hagerman, PJ 2010, Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations. in Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. Wiley-Blackwell, pp. 349-364. https://doi.org/10.1002/9781444314342.ch9
Hagerman RJ, Narcisa V, Hagerman PJ. Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. Wiley-Blackwell. 2010. p. 349-364 https://doi.org/10.1002/9781444314342.ch9
Hagerman, Randi J ; Narcisa, Vivien ; Hagerman, Paul J. / Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. Wiley-Blackwell, 2010. pp. 349-364
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