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There are 2680 results for: content related to: Newborn screening and cascade testing for FMR1 mutations

  1. 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

    Version of Record online : 23 SEP 2005, DOI: 10.1002/ajmg.b.30241

  2. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 5, July 2012, Pages: 589–597, Dr. Marsha Mailick Seltzer, Mei Wang Baker, Jinkuk Hong, Matthew Maenner, Jan Greenberg and Daniel Mandel

    Version of Record online : 22 MAY 2012, DOI: 10.1002/ajmg.b.32065

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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

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32060

  4. 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

    Version of Record online : 11 NOV 2009, DOI: 10.1002/ajmg.b.31046

  5. 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

    Version of Record online : 21 FEB 2013, DOI: 10.1111/cge.12109

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    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

    Version of Record online : 6 APR 2012, DOI: 10.1111/j.1601-183X.2012.00779.x

  7. 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

    Version of Record online : 23 APR 2012, DOI: 10.1002/ajmg.a.35323

  8. 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

    Version of Record online : 9 MAY 2012, DOI: 10.1002/ajmg.b.32061

  9. Co-occurring diagnoses among FMR1 premutation allele carriers

    Clinical Genetics

    Volume 77, Issue 4, April 2010, Pages: 374–381, JE Hunter, JK Rohr and SL Sherman

    Version of Record online : 6 JAN 2010, DOI: 10.1111/j.1399-0004.2009.01317.x

  10. Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: A controlled study

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 147B, Issue 6, 5 September 2008, Pages: 859–872, Cary S. Kogan, Jeremy Turk, Randi J. Hagerman and Kim M. Cornish

    Version of Record online : 28 DEC 2007, DOI: 10.1002/ajmg.b.30685

  11. 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

    Version of Record online : 14 JUN 2010, DOI: 10.1111/j.1365-2788.2010.01290.x

  12. Arithmetic difficulties in females with the fragile X premutation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 7, 1 April 2006, Pages: 665–672, Ave M. Lachiewicz, Deborah V. Dawson, Gail A. Spiridigliozzi and Allyn McConkie-Rosell

    Version of Record online : 28 FEB 2006, DOI: 10.1002/ajmg.a.31082

  13. 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

    Version of Record online : 12 JUN 2012, DOI: 10.1002/ajmg.b.32070

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    Neuropathic features in fragile X premutation carriers

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 1, 1 January 2007, Pages: 19–26, Elizabeth Berry-Kravis, Christopher G. Goetz, Maureen A. Leehey, Randi J. Hagerman, Lin Zhang, Lexin Li, Danh Nguyen, Deborah A. Hall, Nicole Tartaglia, Jennifer Cogswell, Flora Tassone and Paul J. Hagerman

    Version of Record online : 6 DEC 2006, DOI: 10.1002/ajmg.a.31559

  15. A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with visual attention tasks

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 1, 1 January 2003, Pages: 44–51, Jean Steyaert, Eric Legius, Martine Borghgraef and Jean-Pierre Fryns

    Version of Record online : 30 AUG 2002, DOI: 10.1002/ajmg.a.10821

  16. Reproductive Health of Adolescent Girls Who Carry the FMR1 Premutation

    Annals of the New York Academy of Sciences

    Volume 1135, Issue 1, June 2008, Pages: 99–111, John J. De Caro, Celia Dominguez and Stephanie L. Sherman

    Version of Record online : 25 JUL 2008, DOI: 10.1196/annals.1429.029

  17. 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

    Version of Record online : 28 JUL 2013, DOI: 10.1111/cge.12218

  18. Immune-mediated disorders among women carriers of fragile X premutation alleles

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2473–2481, Tri Indah Winarni, Weerasak Chonchaiya, Tanjung Ayu Sumekar, Paul Ashwood, Guadalupe Mendoza Morales, Flora Tassone, Danh V. Nguyen, Sultana M.H. Faradz, Judy Van de Water, Kylee Cook, Alyssa Hamlin, Yi Mu, Paul J. Hagerman and Randi J. Hagerman

    Version of Record online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35569

  19. A girl with fragile X premutation from sperm donation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 7, 1 April 2008, Pages: 888–892, Juthamas Wirojanan, Kathleen Angkustsiri, Flora Tassone, Louise W. Gane and Randi J. Hagerman

    Version of Record online : 19 FEB 2008, DOI: 10.1002/ajmg.a.31876

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    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

    Version of Record online : 21 DEC 2011, DOI: 10.1111/j.1469-1809.2011.00694.x