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There are 5622 results for: content related to: A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male

  1. You have free access to this content
    Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations

    Annals of Human Genetics

    Volume 76, Issue 2, March 2012, Pages: 178–191, Emmanuel Peprah

    Article first published online : 21 DEC 2011, DOI: 10.1111/j.1469-1809.2011.00694.x

  2. Maternal attitudes to newborn screening for fragile X syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 2, February 2013, Pages: 301–311, Louise Christie, Tiffany Wotton, Bruce Bennetts, Veronica Wiley, Bridget Wilcken, Carolyn Rogers, Jackie Boyle, Catherine Turner, Jessica Hansen, Matthew Hunter, Himanshu Goel and Michael Field

    Article first published online : 9 JAN 2013, DOI: 10.1002/ajmg.a.35752

  3. Depression and anxiety symptoms among women who carry the FMR1 premutation: Impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 5, July 2012, Pages: 549–559, Jessica Ezzell Hunter, Mary Leslie, Gloria Novak, Debra Hamilton, Lisa Shubeck, Krista Charen, Ann Abramowitz, Michael P. Epstein, Adriana Lori, Elisabeth Binder, Joseph F. Cubells and Stephanie L. Sherman

    Article first published online : 9 MAY 2012, DOI: 10.1002/ajmg.b.32061

  4. You have free access to this content
    Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 6, September 2012, Pages: 660–668, Molly Losh, Jessica Klusek, Gary E. Martin, John Sideris, Morgan Parlier and Joseph Piven

    Article first published online : 12 JUN 2012, DOI: 10.1002/ajmg.b.32070

  5. Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample

    Journal of Intellectual Disability Research

    Volume 54, Issue 7, July 2010, Pages: 597–610, A. Lachiewicz, D. Dawson, G. Spiridigliozzi, M. Cuccaro, M. Lachiewicz and A. McConkie-Rosell

    Article first published online : 14 JUN 2010, DOI: 10.1111/j.1365-2788.2010.01290.x

  6. Cognitive aspects of Fragile X syndrome

    Wiley Interdisciplinary Reviews: Cognitive Science

    Volume 5, Issue 4, July/August 2014, Pages: 501–508, Lillie B. Huddleston, Jeannie Visootsak and Stephanie L. Sherman

    Article first published online : 29 MAY 2014, DOI: 10.1002/wcs.1296

  7. Early identification of autism in fragile X syndrome: a review

    Journal of Intellectual Disability Research

    Volume 57, Issue 9, September 2013, Pages: 803–814, L. M. McCary and J. E. Roberts

    Article first published online : 14 SEP 2012, DOI: 10.1111/j.1365-2788.2012.01609.x

  8. ADHD symptoms in children with FXS

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 21, 1 November 2006, Pages: 2275–2288, Kelly Sullivan, Deborah Hatton, Julie Hammer, John Sideris, Stephen Hooper, Peter Ornstein and Donald Bailey Jr.

    Article first published online : 4 OCT 2006, DOI: 10.1002/ajmg.a.31388

  9. Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 1911–1916, Catalina García-Nonell, Eugenia Rigau Ratera, Susan Harris, David Hessl, Michele Y. Ono, Nicole Tartaglia, Emily Marvin, Flora Tassone and Randi J. Hagerman

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32290

  10. You have free access to this content
    Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome

    Genes, Brain and Behavior

    Volume 11, Issue 3, April 2012, Pages: 332–341, C. A. Hoeffer, E. Sanchez, R. J. Hagerman, Y. Mu, D. V. Nguyen, H. Wong, A. M. Whelan, R. S. Zukin, E. Klann and F. Tassone

    Article first published online : 15 FEB 2012, DOI: 10.1111/j.1601-183X.2012.00768.x

  11. Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1125–1137, R. Nick Hernandez, Rachel L. Feinberg, Rebecca Vaurio, Natalie M. Passanante, Richard E. Thompson and Walter E. Kaufmann

    Article first published online : 13 MAY 2009, DOI: 10.1002/ajmg.a.32848

  12. Language development and fragile X syndrome: Profiles, syndrome-specificity, and within-syndrome differences

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 13, Issue 1, 2007, Pages: 36–46, Leonard Abbeduto, Nancy Brady and Sara T. Kover

    Article first published online : 26 FEB 2007, DOI: 10.1002/mrdd.20142

  13. Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 17, 1 September 2006, Pages: 1804–1813, Deborah D. Hatton, John Sideris, Martie Skinner, Jean Mankowski, Donald B. Bailey Jr, Jane Roberts and Penny Mirrett

    Article first published online : 12 MAY 2006, DOI: 10.1002/ajmg.a.31286

  14. Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations

    Genetic Disorders and the Fetus, Sixth Edition

    Randi Hagerman, Vivien Narcisa, Paul Hagerman, Pages: 349–364, 2010

    Published Online : 18 MAY 2010, DOI: 10.1002/9781444314342.ch9

  15. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 139B, Issue 1, 5 November 2005, Pages: 115–121, David Hessl, Flora Tassone, Danuta Z. Loesch, Elizabeth Berry-Kravis, Maureen A. Leehey, Louise W. Gane, Ingrid Barbato, Cathlin Rice, Emma Gould, Deborah A. Hall, James Grigsby, Jacob A. Wegelin, Susan Harris, Foster Lewin, Dahlia Weinberg, Paul J. Hagerman and Randi J. Hagerman

    Article first published online : 23 SEP 2005, DOI: 10.1002/ajmg.b.30241

  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 FMR1 gene and fragile X-associated tremor/ataxia syndrome

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 150B, Issue 6, 5 September 2009, Pages: 782–798, J.R. Brouwer, R. Willemsen and B.A. Oostra

    Article first published online : 22 DEC 2008, DOI: 10.1002/ajmg.b.30910

  18. The behavioral phenotype of FMR1 mutations

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 154C, Issue 4, 15 November 2010, Pages: 469–476, Lia Boyle and Walter E. Kaufmann

    Article first published online : 27 OCT 2010, DOI: 10.1002/ajmg.c.30277

  19. FMR1 gene and fragile X syndrome

    American Journal of Medical Genetics

    Volume 97, Issue 2, Summer 2000, Pages: 153–163, Barbara Bardoni, Jean-Louis Mandel and Gene S. Fisch

    Article first published online : 28 NOV 2000, DOI: 10.1002/1096-8628(200022)97:2<153::AID-AJMG7>3.0.CO;2-M

  20. Child and genetic variables associated with maternal adaptation to fragile X syndrome: A multidimensional analysis

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 6, 15 March 2008, Pages: 720–729, Donald B. Bailey Jr, John Sideris, Jane Roberts and Deborah Hatton

    Article first published online : 11 FEB 2008, DOI: 10.1002/ajmg.a.32240