The Principles of Clinical Cytogenetics - Extra Materials - Springer

Fragile X 513
147. Oostra, B.A. and Willemsen, R. (2001) Diagnostic tests for fragile X syndrome. Expert Rev. Mol. Diagn. 1, 226–232.
148. Gedeon, Á.K., Keinänen, M., Adès, L.C., et al. (1995) Overlapping submicroscopic deletions in Xq28 in two unrelated
boys with developmental disorders: identification of a gene near FRAXE. Am. J. Hum. Genet. 56, 907–914.
149. Abrams, M.T., Doheny, K.F., Mazzocco, M.M.M., et al. (1997) Cognitive, behavioral, and neuroanatomical assessment
of two unrelated male children expressing FRAXE. Am. J. Med. Genet. (Neuropsych. Genet.) 74, 73–81.
150. Gecz, J. (2000) The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects.
Ann. Hum. Genet. 64, 95–106.
151. Gu, Y., McIlwain, K.L., Weeber, E.J., et al. (2002) Impaired conditioned fear and enhanced long-term potentiation in
Fmr2 knock-out mice. J. Neurosci. 22, 2753–2763.
152. Hillman, M.A. and Gecz, J. (2001) Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent
transcription activator. J. Hum. Genet. 46, 251–259.
153. Maddalena, A., Hicks, B.D., Spence, W.C., Levinson, G., and Howard-Peebles, P.N. (1994) Prenatal diagnosis in
known fragile X carriers. Am. J. Med. Genet. 51, 490–496.
154. Gane, L.W. and Cronister, A. (2002) Genetic counseling. In Fragile X Syndrome: Diagnosis, Treatment, and Research,
3rd ed. (Hagerman, R.J. and Hagerman, P.J., eds.), The Johns Hopkins University Press, Baltimore, MD, pp. 251–286.