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There are 11592 results for: content related to: Fragile X-associated tremor/ataxia syndrome ( FXTAS ) in grey zone carriers

  1. The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 263–268, T I Winarni, F E P Mundhofir, A Ediati, M Belladona, W M Nillesen, H G Yntema, B C J Hamel, S M H Faradz and R J Hagerman

    Article first published online : 6 JUN 2012, DOI: 10.1111/j.1399-0004.2012.01899.x

  2. FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 378–382, L. Santa María, A. Pugin, M.A. Alliende, S. Aliaga, B. Curotto, T. Aravena, H.-T. Tang, G. Mendoza-Morales, R. Hagerman and F. Tassone

    Article first published online : 13 OCT 2013, DOI: 10.1111/cge.12278

  3. Prevalence and risk of migraine headaches in adult fragile X premutation carriers

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 546–551, J Au, RS Akins, L Berkowitz-Sutherland, H-T Tang, Y Chen, A Boyd, F Tassone, DV Nguyen and R Hagerman

    Article first published online : 21 FEB 2013, DOI: 10.1111/cge.12109

  4. A family with two female siblings with compound heterozygous FMR1 premutation alleles

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 458–463, K. Basuta, R. Lozano, A. Schneider, C.M. Yrigollen, D. Hessl, R.J. Hagerman and F. Tassone

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12218

  5. Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion

    Clinical Genetics

    D. Z. Loesch, M. Q. Bui, E. Hammersley, A. Schneider, E. Storey, P. Stimpson, T. Burgess, D. Francis, H. Slater, F. Tassone, R. J. Hagerman and D. Hessl

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12347

  6. CGG repeat in the FMR1 gene: size matters

    Clinical Genetics

    Volume 80, Issue 3, September 2011, Pages: 214–225, R Willemsen, J Levenga and BA Oostra

    Article first published online : 30 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01723.x

  7. Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 181–184, S.M. Summers, J. Cogswell, J.E. Goodrich, Y. Mu, D.V. Nguyen, S.D. Brass and R.J. Hagerman

    Article first published online : 2 SEP 2013, DOI: 10.1111/cge.12249

  8. Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 441–445, J.-H. Jang, K. Lee, E.-H. Cho, E.-H. Lee, J.-W. Kim and C.-S. Ki

    Article first published online : 13 JUN 2013, DOI: 10.1111/cge.12195

  9. You have free access to this content
    Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS

    Genes, Brain and Behavior

    Volume 11, Issue 5, July 2012, Pages: 577–585, F. Tassone, C. M. Greco, M. R. Hunsaker, A. L. Seritan, R. F. Berman, L. W. Gane, S. Jacquemont, K. Basuta, L.-W. Jin, P. J. Hagerman and R. J. Hagerman

    Article first published online : 6 APR 2012, DOI: 10.1111/j.1601-183X.2012.00779.x

  10. Proteus syndrome review: molecular, clinical, and pathologic features

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 111–119, M. Michael Cohen Jr.

    Article first published online : 23 OCT 2013, DOI: 10.1111/cge.12266

  11. Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS)

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1304–1309, Alyssa A. Hamlin, Dina Sukharev, Luis Campos, Yi Mu, Flora Tassone, David Hessl, Danh V. Nguyen, Danuta Loesch and Randi J. Hagerman

    Article first published online : 23 APR 2012, DOI: 10.1002/ajmg.a.35323

  12. Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 153B, Issue 3, April 2010, Pages: 775–785, P.E. Adams, J.S. Adams, D.V. Nguyen, D. Hessl, J.A. Brunberg, F. Tassone, W. Zhang, K. Koldewyn, S.M. Rivera, J. Grigsby, L. Zhang, C. DeCarli, P.J. Hagerman and R.J. Hagerman

    Article first published online : 11 NOV 2009, DOI: 10.1002/ajmg.b.31046

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    Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 341–350, Y Indo

    Article first published online : 13 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01943.x

  14. Making headway with genetic diagnostics of intellectual disabilities

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 101–110, M.H. Willemsen and T. Kleefstra

    Article first published online : 25 AUG 2013, DOI: 10.1111/cge.12244

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    Expanded clinical phenotype of women with the FMR1 premutation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1009–1016, Sarah M. Coffey, Kylee Cook, Nicole Tartaglia, Flora Tassone, Danh V. Nguyen, Ruiqin Pan, Hannah E. Bronsky, Jennifer Yuhas, Mariya Borodyanskaya, Jim Grigsby, Melanie Doerflinger, Paul J. Hagerman and Randi J. Hagerman

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32060

  16. Newborn screening and cascade testing for FMR1 mutations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 59–69, Page L. Sorensen, Louise W. Gane, Mark Yarborough, Randi J. Hagerman and Flora Tassone

    Article first published online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35680

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    The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 303–314, FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour and P Ostergaard

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12173

  18. Human facial dysostoses

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 499–510, D Wieczorek

    Article first published online : 8 APR 2013, DOI: 10.1111/cge.12123

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    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

  20. Ataxia telangiectasia: more variation at clinical and cellular levels

    Clinical Genetics

    A.M.R. Taylor, Z. Lam, J.I. Last and P.J. Byrd

    Article first published online : 8 SEP 2014, DOI: 10.1111/cge.12453