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There are 8388 results for: content related to: Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2

  1. The male phenotype in osteopathia striata congenita with cranial sclerosis

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2397–2408, Sarah K. Holman, Phil Daniel, Zandra A. Jenkins, Rachel L. Herron, Tim Morgan, Ravi Savarirayan, C.W. Chow, Axel Bohring, Annette Mosel, Didier Lacombe, Bernhard Steiner, Thomas Schmitt-Mechelke, Barbara Schroter, Annick Raas-Rothschild, Sixto Garcia Miñaur, Mary Porteous, Michael Parker, Oliver Quarrell, Dagmar Tapon, Valérie Cormier-Daire, Sahar Mansour, Ruth Nash, Laurence A. Bindoff, Torunn Fiskerstrand and Stephen P. Robertson

    Version of Record online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34178

  2. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 251–256, SK Holman, T Morgan, G Baujat, V Cormier-Daire, T-J Cho, M Lees, J Samanich, D Tapon, HD Hove, A Hing, R Hennekam and SP Robertson

    Version of Record online : 5 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01905.x

  3. Inactivation of the tumor suppressor WTX in a subset of pediatric tumors

    Genes, Chromosomes and Cancer

    Volume 53, Issue 1, January 2014, Pages: 67–77, Sara Akhavanfard, Sara O. Vargas, Moonjoo Han, Mai Nitta, Clarice B. Chang, Long P. Le, Ladan Fazlollahi, Quan Nguyen, Yunqing Ma, Arjola Cosper, Dora Dias-Santagata, Jae Y. Han, Kristin Bergethon, Darrell R. Borger, Leif W. Ellisen, Scott L. Pomeroy, Daniel A. Haber, A. John Iafrate and Miguel N. Rivera

    Version of Record online : 5 NOV 2013, DOI: 10.1002/gcc.22118

  4. Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 594–599, Sean B. Herman, Sarah K. Holman, Stephen P. Robertson, Lynn Davidson, Benjamin Taragin and Joy Samanich

    Version of Record online : 7 FEB 2013, DOI: 10.1002/ajmg.a.35716

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    Osteopathia striata with cranial sclerosis owing to WTX gene defect

    Journal of Bone and Mineral Research

    Volume 25, Issue 1, January 2010, Pages: 82–90, Bram Perdu, Fenna de Freitas, Suzanne GM Frints, Meyke Schouten, Connie Schrander-Stumpel, Mafalda Barbosa, Jorge Pinto-Basto, Margarida Reis-Lima, Marie-Christine de Vernejoul, Kristin Becker, Marie-Louise Freckmann, Kathlijn Keymolen, Eric Haan, Ravi Savarirayan, Rainer Koenig, Bernhard Zabel, Filip M Vanhoenacker and Wim Van Hul

    Version of Record online : 18 DEC 2009, DOI: 10.1359/jbmr.090707

  6. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 998–1002, Atsushi Fujita, Nobuhiko Ochi, Hidehiko Fujimaki, Hideki Muramatsu, Yoshiyuki Takahashi, Jun Natsume, Seiji Kojima, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naomichi Matsumoto and Noriko Miyake

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36369

  7. Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

    Clinical Genetics

    Volume 80, Issue 4, October 2011, Pages: 383–388, B Perdu, P Lakeman, G Mortier, R Koenig, AMA Lachmeijer and W Van Hul

    Version of Record online : 18 OCT 2010, DOI: 10.1111/j.1399-0004.2010.01553.x

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    Wnt signalling: What The X@# is WTX?

    The EMBO Journal

    Volume 30, Issue 8, April 20, 2011, Pages: 1415–1417, Yannik Regimbald-Dumas and Xi He

    Version of Record online : 2 JUN 2010, DOI: 10.1038/emboj.2011.101

  9. LMP1 antagonizes WNT/β-catenin signalling through inhibition of WTX and promotes nasopharyngeal dysplasia but not tumourigenesis in LMP1B95-8 transgenic mice

    The Journal of Pathology

    Volume 223, Issue 5, April 2011, Pages: 574–583, Zhang QingLing, Yu LiNa, Liu Li, Wang Shuang, Yang YuFang, Ding Yi, Jeevan Divakaran, Li Xin and Ding YanQing

    Version of Record online : 10 DEC 2010, DOI: 10.1002/path.2820

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    ASBMR 2010 Annual Meeting MO0001–MO0484

    Journal of Bone and Mineral Research

    Volume 25, Issue S1, 2010, Pages: S363–S502,

    Version of Record online : 16 JUN 2011, DOI: 10.1002/jbmr.5650251305

  11. First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1173–1176, Sara Ciceri, Elisa Cattaneo, Chiara Fossati, Paolo Radice, Angelo Selicorni and Daniela Perotti

    Version of Record online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35813

  12. Integrality of Polyhedra

    Combinatorial Optimization, First Edition

    William J. Cook, William H. Cunningham, William R. Pulleyblank, Alexander Schrijver, Pages: 199–240, 2011

    Published Online : 30 SEP 2011, DOI: 10.1002/9781118033142.ch6

  13. WTX inactivation is a frequent, but late event in Wilms tumors without apparent clinical impact

    Genes, Chromosomes and Cancer

    Volume 48, Issue 12, December 2009, Pages: 1102–1111, Jenny Wegert, Stefanie Wittmann, Ivo Leuschner, Eva Geissinger, Norbert Graf and Manfred Gessler

    Version of Record online : 16 SEP 2009, DOI: 10.1002/gcc.20712

  14. Wilms tumor genetics: Mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors

    Genes, Chromosomes and Cancer

    Volume 47, Issue 6, June 2008, Pages: 461–470, E. Cristy Ruteshouser, Stephen M. Robinson and Vicki Huff

    Version of Record online : 29 FEB 2008, DOI: 10.1002/gcc.20553

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    Expression patterns of the Wtx/Amer gene family during mouse embryonic development

    Developmental Dynamics

    Volume 239, Issue 6, June 2010, Pages: 1867–1878, Glenda Comai, Agnes Boutet, Yasmine Neirijnck and Andreas Schedl

    Version of Record online : 12 MAY 2010, DOI: 10.1002/dvdy.22313

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    Stat3 inhibits WTX expression through up-regulation of microRNA-370 in Wilms tumor

    FEBS Letters

    Volume 587, Issue 6, March 18, 2013, Pages: 639–644, Xu Cao, Dehong Liu, Xiangming Yan, Ya Zhang, Liqun Yuan, Ting Zhang, Mingcui Fu, Yun Zhou and Jian Wang

    Version of Record online : 17 JAN 2013, DOI: 10.1016/j.febslet.2013.01.012

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    Weak toxin WTX from Naja kaouthia cobra venom interacts with both nicotinic and muscarinic acetylcholine receptors

    The FEBS Journal

    Volume 276, Issue 18, September 2009, Pages: 5065–5075, Dmitry Yu. Mordvintsev, Yakov L. Polyak, Dmitry I. Rodionov, Jan Jakubik, Vladimir Dolezal, Evert Karlsson, Victor I. Tsetlin and Yuri N. Utkin

    Version of Record online : 4 AUG 2009, DOI: 10.1111/j.1742-4658.2009.07203.x

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    Direct Cloning of a Target Gene from a Pool of Homologous Sequences: Complete cDNA Sequence of a Weak Neurotoxin from Cobra Naja kaouthia

    IUBMB Life

    Volume 55, Issue 1, January 2003, Pages: 43–47, TL Oustitch, L-E. Peters, Yu Utkin and VI Tsetlin

    Version of Record online : 3 JAN 2008, DOI: 10.1080/1521654021000061664

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    Different incidences of epigenetic but not genetic abnormalities between Wilms tumors in Japanese and Caucasian children

    Cancer Science

    Volume 103, Issue 6, June 2012, Pages: 1129–1135, Masayuki Haruta, Yasuhito Arai, Naoki Watanabe, Yuiko Fujiwara, Shohei Honda, Junjiro Ohshima, Fumio Kasai, Hisaya Nakadate, Hiroshi Horie, Hajime Okita, Jun-Ichi Hata, Masahiro Fukuzawa and Yasuhiko Kaneko

    Version of Record online : 19 APR 2012, DOI: 10.1111/j.1349-7006.2012.02269.x

  20. An Efficient Solution-Processed Intermediate Layer for Facilitating Fabrication of Organic Multi-Junction Solar Cells

    Advanced Energy Materials

    Volume 3, Issue 12, December 2013, Pages: 1597–1605, Ning Li, Derya Baran, Karen Forberich, Mathieu Turbiez, Tayebeh Ameri, Frederik C. Krebs and Christoph J. Brabec

    Version of Record online : 16 JUL 2013, DOI: 10.1002/aenm.201300372