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There are 4667 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

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

  2. 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

  3. 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

  4. 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

    Version of Record online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35680

  5. 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

  6. 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

    Version of Record online : 9 JAN 2013, DOI: 10.1002/ajmg.a.35752

  7. 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

  8. 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

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

  9. 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

    Version of Record online : 11 FEB 2008, DOI: 10.1002/ajmg.a.32240

  10. 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

  11. Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 409–412, M. Grazia Pomponi, Roberta Pietrobono, Caterina Neri, Pietro Chiurazzi and Giovanni Neri

    Version of Record online : 15 JAN 2010, DOI: 10.1002/ajmg.a.33213

  12. Fragile X syndrome: an overview and update of the FMR1 gene

    Clinical Genetics

    Accepted manuscript online: 15 JUN 2017, Montserrat Mila, Maria Isabel Alvarez-Mora, Irene madrigal and Laia Rodriguez-Revenga

    DOI: 10.1111/cge.13075

  13. You have free access to this content
    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

  14. High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 9, September 2015, Pages: 2154–2161, Kirin Basuta, Andrea Schneider, Louise Gane, Jonathan Polussa, Bryan Woodruff, Dalyir Pretto, Randi Hagerman and Flora Tassone

    Version of Record online : 29 APR 2015, DOI: 10.1002/ajmg.a.37125

  15. You have free access to this content
    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

    Version of Record online : 22 DEC 2008, DOI: 10.1002/ajmg.b.30910

  16. The fragile X continuum: new advances and perspectives

    Journal of Intellectual Disability Research

    Volume 52, Issue 6, June 2008, Pages: 469–482, K. Cornish, J. Turk and R. Hagerman

    Version of Record online : 28 APR 2008, DOI: 10.1111/j.1365-2788.2008.01056.x

  17. 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

    Version of Record online : 30 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01723.x

  18. Premature ovarian failure in the fragile X syndrome

    American Journal of Medical Genetics

    Volume 97, Issue 3, Autumn (Fall) 2000, Pages: 189–194, Stephanie L. Sherman

    Version of Record online : 12 JAN 2001, DOI: 10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J

  19. Risk of cognitive impairment in female premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 150B, Issue 2, 5 March 2009, Pages: 262–270, Mónica Mínguez, Berta Ibáñez, Maria-Pilar Ribate, Feliciano Ramos, Eva García-Alegría, Aránzazu Fernández-Rivas, Eduardo Ruiz-Parra, Marisa Poch, Angel Alonso, Cristina Martinez-Bouzas, Elena Beristain and Maria-Isabel Tejada

    Version of Record online : 18 JUN 2008, DOI: 10.1002/ajmg.b.30803

  20. 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