Browsing by Author "e5bc3200-9908-4ab2-93e6-f0444483355d"

Now showing items 1-3 of 3

    • FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile 
      Santa María, Lorena; Pugin, A.; Alliende, M. A.; Aliaga, S.; Curotto, B.; Aravena, T.; Tang, H. T.; Mendoza-Morales, G.; Hagerman, R.; Tassone, F. (Blackwell Publishing Ltd, 2014)
      © 2013 John Wiley & Sons A/S. Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, ...
    • Novel molecular and clinical aspects of FMR1 in fragile x syndrome highlighting significance of mosaicism 
      Aliaga, S.; Baker, Emma K.; Kraan, C.; Arpone, Marta; Bui, Q.; Li, X.; Ling, Ling; Francis, D.; Hunter, Matthew; Elliot, J.; Rogers, Carolyn; Field, M.; Slater, Howard R.; Bretherton, Lesley; María, L.; Faundes, Víctor; Curotto, B.; Morales, P.; Trigo, C.; Salas, I.; Alliende, Angelica M.; Amor, David J.; Godler, David E. (Wiley, 2018-08)
    • Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may ... 
      Castro, A.; Rodríguez, F.; Flórez, M.; López, P.; Curotto, B.; Martínez, D.; Maturana, A.; Lardone, M. C.; Palma, C.; Mericq, Verónica; Ebensperger, M.; Cassorla Goluboff, Fernando (Oxford University Press, 2017)
      © The Author 2016. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. STUDY QUESTION: Are copy number variations (CNVs) in the pseudoautosomal ...