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There are 8522 results for: content related to: Expanding the phenotype associated with missense mutations of the ARX gene

  1. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  2. Whole ARX gene duplication is compatible with normal intellectual development

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2324–2327, Cornel Popovici, Tiffany Busa, Odile Boute, Ann-Charlotte Thuresson, Odile Perret, Sabine Sigaudy, Tommy Södergren, Joris Andrieux, Anne Moncla and Nicole Philip

    Version of Record online : 7 JUL 2014, DOI: 10.1002/ajmg.a.36564

  3. You have full text access to this OnlineOpen article
    Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 3, May 2015, Pages: 203–214, Isabel Marques, Maria João Sá, Gabriela Soares, Maria do Céu Mota, Carla Pinheiro, Lisa Aguiar, Marta Amado, Christina Soares, Angelina Calado, Patrícia Dias, Ana Berta Sousa, Ana Maria Fortuna, Rosário Santos, Katherine B. Howell, Monique M. Ryan, Richard J Leventer, Rani Sachdev, Rachael Catford, Kathryn Friend, Tessa R. Mattiske, Cheryl Shoubridge and Paula Jorge

    Version of Record online : 25 FEB 2015, DOI: 10.1002/mgg3.133

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    Malformations among the X-linked intellectual disability syndromes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2741–2749, Roger E. Stevenson, Charles E. Schwartz and R. Curtis Rogers

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36179

  5. Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 510–522, T Fullston, M Finnis, A Hackett, B Hodgson, L Brueton, G Baynam, A Norman, O Reish, C Shoubridge and J Gecz

    Version of Record online : 18 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01685.x

  6. An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX

    Human Mutation

    Tessa Mattiske, Ching Moey, Lisenka E. Vissers, Natalie Thorne, Peter Georgeson, Madhura Bakshi and Cheryl Shoubridge

    Version of Record online : 15 FEB 2017, DOI: 10.1002/humu.23190

  7. Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2066–2073, Lior Borovik, Peggy Modaff, Hans R. Waterham, Anthony D. Krentz and Richard M. Pauli

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36019

  8. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2204–2215, Ofer Sarig, Dorit Goldsher, Janna Nousbeck, Dana Fuchs-Telem, Ksenya Cohen-Katsenelson, Theodore C. Iancu, Irena Manov, Ann Saada, Eli Sprecher and Hanna Mandel

    Version of Record online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36059

  9. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2989–3004, Marco Castori, Silvia Morlino, Claudia Celletti, Giulia Ghibellini, Michela Bruschini, Paola Grammatico, Carlo Blundo and Filippo Camerota

    Version of Record online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

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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

  11. Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  12. Germline mosaicism does not explain the maternal age effect on trisomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2495–2503, Ross Rowsey, Anna Kashevarova, Brenda Murdoch, Carrie Dickenson, Tracey Woodruff, Edith Cheng, Patricia Hunt and Terry Hassold

    Version of Record online : 15 AUG 2013, DOI: 10.1002/ajmg.a.36120

  13. Autism and epistemology IV: Does autism need a theory of mind?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2464–2480, Gene S. Fisch

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36135

  14. MLL2 and KDM6A mutations in patients with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2234–2243, Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun-Ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko-Ichiro Yoshiura, Naomichi Matsumoto and Norio Niikawa

    Version of Record online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

  15. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1882–1896, Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover and Catherine E. Keegan

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36018

  16. You have free access to this content
    Solving the puzzle of spinal muscular atrophy: What are the missing pieces?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2836–2845, Francesco Danilo Tiziano, Judith Melki and Louise R. Simard

    Version of Record online : 3 OCT 2013, DOI: 10.1002/ajmg.a.36251

  17. Microdeletion 5q14.3 and anomalies of brain development

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2124–2133, Alrun Hotz, Yorck Hellenbroich, Jürgen Sperner, Michaela Linder-Lucht, Uta Tacke, Caren Walter, Almuth Caliebe, Inga Nagel, Dawn E. Saunders, Gerhard Wolff, Peter Martin and Deborah J. Morris-Rosendahl

    Version of Record online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36020

  18. Epidemiology of fragile X syndrome: A systematic review and meta-analysis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1648–1658, Jessica Hunter, Oliver Rivero-Arias, Angel Angelov, Edward Kim, Iain Fotheringham and Jose Leal

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.a.36511

  19. Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1472–1476, Renske Oegema, Anneke Maat-Kievit, Maarten H. Lequin, Rachel Schot, Veerle M.H. Nanninga- van den Neste, Marianne E. Doornbos, Marie C.Y. de Wit, Dicky J. Halley and Grazia M.S. Mancini

    Version of Record online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35365

  20. Search for genetic modifiers of IRF6 and genotype–phenotype correlations in Van der Woude and popliteal pterygium syndromes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2535–2544, Elizabeth J. Leslie, Jennifer L. Mancuso, Brian C. Schutte, Margaret E. Cooper, Kate M. Durda, Jamie L'Heureux, Theresa M. Zucchero, Mary L. Marazita and Jeffrey C. Murray

    Version of Record online : 15 AUG 2013, DOI: 10.1002/ajmg.a.36133