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There are 823637 results for: content related to: A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier

  1. 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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    Dampened dopamine-mediated neuromodulation in prefrontal cortex of fragile X mice

    The Journal of Physiology

    Volume 591, Issue 4, February 2013, Pages: 1133–1143, Kush Paul, Deepa V. Venkitaramani and Charles L. Cox

    Version of Record online : 8 JAN 2013, DOI: 10.1113/jphysiol.2012.241067

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    Lithium treatment alleviates impaired cognition in a mouse model of fragile X syndrome

    Genes, Brain and Behavior

    Volume 12, Issue 7, October 2013, Pages: 723–731, M. K. King and R. S. Jope

    Version of Record online : 29 AUG 2013, DOI: 10.1111/gbb.12071

  4. Males but not females show differences in calbindin immunoreactivity in the dorsal thalamus of the mouse model of fragile X syndrome

    Journal of Comparative Neurology

    Volume 521, Issue 4, 1 March 2013, Pages: 894–911, Rosa M. Giráldez-Pérez, M. Nieves Ávila, Mónica Feijóo-Cuaresma, Raúl Heredia, Yolanda De Diego-Otero, M. Ángeles Real and Salvador Guirado

    Version of Record online : 22 JAN 2013, DOI: 10.1002/cne.23209

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    MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients

    Genes, Brain and Behavior

    Volume 12, Issue 6, August 2013, Pages: 595–603, M. I. Alvarez-Mora, L. Rodriguez-Revenga, I. Madrigal, F. Torres-Silva, E. Mateu-Huertas, E. Lizano, M. R. Friedländer, E. Martí, X. Estivill and M. Milà

    Version of Record online : 24 JUL 2013, DOI: 10.1111/gbb.12061

  6. 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

  7. 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

    Version of Record online : 13 JUN 2013, DOI: 10.1111/cge.12195

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    Increasing our understanding of human cognition through the study of fragile X syndrome

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 147–177, Denise Cook, Erin Nuro and Keith K. Murai

    Version of Record online : 30 JUL 2013, DOI: 10.1002/dneu.22096

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    Fragile X syndrome: From protein function to therapy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2809–2821, Claudia Bagni and Ben A. Oostra

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36241

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    c-Jun N-terminal kinase regulates mGluR-dependent expression of post-synaptic FMRP target proteins

    Journal of Neurochemistry

    Volume 127, Issue 6, December 2013, Pages: 772–781, Travis L. Schmit, James A. Dowell, Margaret E. Maes and Michael Wilhelm

    Version of Record online : 24 OCT 2013, DOI: 10.1111/jnc.12453

  11. Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 577–580, TI Winarni, A Utari, FEP Mundhofir, RJ Hagerman and SMH Faradz

    Version of Record online : 20 FEB 2013, DOI: 10.1111/cge.12095

  12. High rates of comorbid depressive and anxiety disorders among women with premutation of the FMR1 gene

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 8, December 2013, Pages: 872–878, Heather A. Kenna, Molly Tartter, Scott S. Hall, Amy A. Lightbody, Quynh Nguyen, C. Paula de los Angeles, Allan L. Reiss and Natalie L. Rasgon

    Version of Record online : 3 SEP 2013, DOI: 10.1002/ajmg.b.32196

  13. Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus

    Autism Research

    Volume 7, Issue 1, February 2014, Pages: 60–71, Anahita Amiri, Efrain Sanchez-Ortiz, Woosung Cho, Shari G. Birnbaum, Jing Xu, Renée M. McKay and Luis F. Parada

    Version of Record online : 9 JAN 2014, DOI: 10.1002/aur.1342

  14. Maternal FMR1 premutation allele expansion and contraction in fraternal twins

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2620–2625, Maria P. Alfaro, Melinda Cohen and Cindy L. Vnencak-Jones

    Version of Record online : 15 AUG 2013, DOI: 10.1002/ajmg.a.36123

  15. 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

    Version of Record online : 13 OCT 2013, DOI: 10.1111/cge.12278

  16. The Mismatch Repair Protein MSH2 is Rate Limiting for Repeat Expansion in a Fragile X Premutation Mouse Model

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 129–136, Rachel Adihe Lokanga, Xiao-Nan Zhao and Karen Usdin

    Version of Record online : 14 NOV 2013, DOI: 10.1002/humu.22464

  17. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2294–2299, Scott E. Hickey, Lauren Walters-Sen, Theresa Mihalic Mosher, Ruthann B. Pfau, Robert Pyatt, Pamela J. Snyder, Juan F. Sotos and Thomas W. Prior

    Version of Record online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36034

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    Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome

    Genes, Brain and Behavior

    Volume 13, Issue 2, February 2014, Pages: 152–162, J.-C. Yang, C. Simon, A. Schneider, A. L. Seritan, L. Hamilton, P. J. Hagerman, R. J. Hagerman and J. M. Olichney

    Version of Record online : 26 DEC 2013, DOI: 10.1111/gbb.12114

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    Epigenetics, fragile X syndrome and transcriptional therapy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2797–2808, Elisabetta Tabolacci and Pietro Chiurazzi

    Version of Record online : 3 OCT 2013, DOI: 10.1002/ajmg.a.36264

  20. Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 771–778, Sarah L. Nolin, Sachin Sah, Anne Glicksman, Stephanie L. Sherman, Emily Allen, Elizabeth Berry-Kravis, Flora Tassone, Carolyn Yrigollen, Amy Cronister, Marcia Jodah, Nicole Ersalesi, Carl Dobkin, W. Ted Brown, Raghav Shroff, Gary J. Latham and Andrew G. Hadd

    Version of Record online : 26 FEB 2013, DOI: 10.1002/ajmg.a.35833