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There are 5596 results for: content related to: Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion

  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. You have free access to this content
    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

  4. 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

  5. Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2946–2952, Sébastien Chénier, Abdul Noor, Lucie Dupuis, Dimitri J Stavropoulos and Roberto Mendoza-Londono

    Version of Record online : 17 SEP 2012, DOI: 10.1002/ajmg.a.35619

  6. 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

  7. 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

  8. A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male–male transmission

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2292–2296, Maureen Murphy-Ryan, Salman Kirmani, Dana Mara Thompson, Larry A. Binkovitz, Kristen B. Thomas and Dusica Babovic-Vuksanovic

    Version of Record online : 20 JUL 2012, DOI: 10.1002/ajmg.a.35497

  9. Prenatal diagnosis of osteopathia striata with cranial sclerosis

    Prenatal Diagnosis

    Volume 35, Issue 3, March 2015, Pages: 302–304, Alexandre Vasiljevic, Caroline Azzi, Audrey Lacalm, Daniele Combourieu, Sophie Collardeau-Frachon, Frédérique Dijoud, Jerôme Massardier, Wim Van Hul, Caroline Fromageoux, Laurent Guibaud, Pascal Gaucherand, Marie-Pierre Cordier and Mona Massoud

    Version of Record online : 26 NOV 2014, DOI: 10.1002/pd.4513

  10. 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

  11. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

    American Journal of Medical Genetics Part A

    Volume 173, Issue 7, July 2017, Pages: 1931–1935, Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs and Soo-Mi Park

    Version of Record online : 12 MAY 2017, DOI: 10.1002/ajmg.a.38261

  12. Osteopathia striata with cranial sclerosis: Clinical, radiological, and bone histological findings in an adolescent girl

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 1, 15 August 2004, Pages: 8–12, L.M. Ward, F. Rauch, R. Travers, M. Roy, J. Montes, G. Chabot and F.H. Glorieux

    Version of Record online : 18 MAY 2004, DOI: 10.1002/ajmg.a.30107

  13. 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

  14. 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

  15. You have free access to this content
    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

  16. Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology

    Prenatal Diagnosis

    Volume 35, Issue 2, February 2015, Pages: 200–202, Chloé Quélin, Philippe Loget, Dominique D'Hervé, Mélanie Fradin, Joëlle Milon, Mathilde Ferry, Delphine Body-Bechou, Catherine Tréguier, Maria Garcia Hoyos and Sylvie Odent

    Version of Record online : 26 OCT 2014, DOI: 10.1002/pd.4502

  17. You have full text access to this Open Access content
    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

  18. Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree

    American Journal of Medical Genetics

    Volume 63, Issue 1, 3 May 1996, Pages: 68–73, Rainer König, Christof Dukiet, Andrea Dörries, Bernhard Zabel and Sigrun Fuchs

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960503)63:1<68::AID-AJMG14>3.0.CO;2-S

  19. A knock-in mouse line conditionally expressing the tumor suppressor WTX/AMER1

    genesis

    Agnès Boutet, Glenda Comai, Aurélie Charlet, Fariba Jian Motamedi, Haroun Dhib, Roberto Bandiera and Andreas Schedl

    Version of Record online : 16 OCT 2017, DOI: 10.1002/dvg.23074

  20. 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