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There are 8573 results for: content related to: Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

  1. You have free access to this content
    WNT5A mutations in patients with autosomal dominant Robinow syndrome

    Developmental Dynamics

    Volume 239, Issue 1, January 2010, Pages: 327–337, Anthony D. Person, Soraya Beiraghi, Christine M. Sieben, Spencer Hermanson, Ann N. Neumann, Mara E. Robu, J. Robert Schleiffarth, Charles J. Billington Jr, Hans van Bokhoven, Jeannette M. Hoogeboom, Juliana F. Mazzeu, Anna Petryk, Lisa A. Schimmenti, Han G. Brunner, Stephen C. Ekker and Jamie L. Lohr

    Article first published online : 13 NOV 2009, DOI: 10.1002/dvdy.22156

  2. You have free access to this content
    Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

    Developmental Dynamics

    Volume 229, Issue 2, February 2004, Pages: 400–410, Georg C. Schwabe, Britta Trepczik, Kathrin Süring, Norbert Brieske, Abigail S. Tucker, Paul T. Sharpe, Yasuhiro Minami and Stefan Mundlos

    Article first published online : 9 JAN 2004, DOI: 10.1002/dvdy.10466

  3. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

    American Journal of Medical Genetics Part A

    Mona Aglan, Khalda Amr, Samira Ismail, Adel Ashour, Ghada A. Otaify, Mennat Allah I. Mehrez, Eman H. A. Aboul-Ezz, Mona El-Ruby, Inas Mazen, Mohamed S. Abdel-Hamid and Samia A. Temtamy

    Article first published online : 18 AUG 2015, DOI: 10.1002/ajmg.a.37287

  4. Craniofacial and intraoral phenotype of Robinow syndrome forms

    Clinical Genetics

    Volume 80, Issue 1, July 2011, Pages: 15–24, S Beiraghi, V Leon-Salazar, BE Larson, MT John, ML Cunningham, A Petryk and JL Lohr

    Article first published online : 16 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01683.x

  5. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B

    Human Mutation

    Volume 22, Issue 1, July 2003, Pages: 1–11, Ali R. Afzal and Steve Jeffery

    Article first published online : 4 JUN 2003, DOI: 10.1002/humu.10233

  6. Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 185–189, Fatih Tufan, Kivanc Cefle, Seval Türkmen, Aydin Türkmen, Unal Zorba, Memduh Dursun, Sükrü Oztürk, Sükrü Palandüz, Tevfik Ecder, Stefan Mundlos and Denise Horn

    Article first published online : 10 JUN 2005, DOI: 10.1002/ajmg.a.30785

  7. Dominant versus recessive traits conveyed by allelic mutations – to what extent is nonsense-mediated decay involved?

    Clinical Genetics

    Volume 75, Issue 4, April 2009, Pages: 394–400, S Ben-Shachar, M Khajavi, MA Withers, CA Shaw, H Van Bokhoven, HG Brunner and JR Lupski

    Article first published online : 19 FEB 2009, DOI: 10.1111/j.1399-0004.2008.01114.x

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    Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome

    Developmental Dynamics

    Volume 235, Issue 12, December 2006, Pages: 3456–3465, Sigmar Stricker, Nicole Verhey Van Wijk, Florian Witte, Norbert Brieske, Kathrin Seidel and Stefan Mundlos

    Article first published online : 23 OCT 2006, DOI: 10.1002/dvdy.20993

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    Ror-family receptor tyrosine kinases in noncanonical Wnt signaling: Their implications in developmental morphogenesis and human diseases

    Developmental Dynamics

    Volume 239, Issue 1, January 2010, Pages: 1–15, Yasuhiro Minami, Isao Oishi, Mitsuharu Endo and Michiru Nishita

    Article first published online : 15 JUN 2009, DOI: 10.1002/dvdy.21991

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    Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2

    Genes to Cells

    Volume 9, Issue 12, December 2004, Pages: 1227–1238, Marei Sammar, Sigmar Stricker, Georg C. Schwabe, Christina Sieber, Anke Hartung, Michael Hanke, Isao Oishi, Jens Pohl, Yasuhiro Minami, Walter Sebald, Stefan Mundlos and Petra Knaus

    Article first published online : 25 NOV 2004, DOI: 10.1111/j.1365-2443.2004.00799.x

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    De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 34–41, M. Roifman, C.L.M. Marcelis, T. Paton, C. Marshall, R. Silver, J.L. Lohr, H.G. Yntema, H. Venselaar, H. Kayserili, B. van Bon, G. Seaward, FORGE Canada Consortium, H.G. Brunner and D. Chitayat

    Article first published online : 24 MAY 2014, DOI: 10.1111/cge.12401

  12. Omodysplasia: An affected mother and son

    American Journal of Medical Genetics

    Volume 111, Issue 2, 1 August 2002, Pages: 169–177, Charles P. Venditti, Jennifer Farmer, Karen L. Russell, Christopher A. Friedrich, Craig Alter, Douglas Canning, Linton Whitaker, Michael T. Mennuti, Deborah A. Driscoll and Elaine H. Zackai

    Article first published online : 25 JUL 2002, DOI: 10.1002/ajmg.10555

  13. An osteosclerotic form of Robinow syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2638–2642, Kieran J. Bunn, Angeline Lai, Azza Al-Ani, Mauro Farella, Susan Craw and Stephen P. Robertson

    Article first published online : 14 JUL 2014, DOI: 10.1002/ajmg.a.36677

  14. Living history—autobiography: Pediatric genetics in a new world

    American Journal of Medical Genetics

    Volume 59, Issue 1, 23 October 1995, Pages: 8–13, Meinhard Robinow

    Article first published online : 16 MAY 2005, DOI: 10.1002/ajmg.1320590104

  15. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 4, 15 February 2007, Pages: 320–325, Juliana Forte Mazzeu, Eliete Pardono, Angela M. Vianna-Morgante, Antônio Richieri-Costa, Chong Ae Kim, Décio Brunoni, Lúcia Martelli, Carlos Eugênio F. de Andrade, Guilherme Colin and Paulo A. Otto

    Article first published online : 26 JAN 2007, DOI: 10.1002/ajmg.a.31592

  16. A girl with deletion 9q22.1–q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1885–1889, Beata Nowakowska, Anna Kutkowska-Kaźmierczak, Paweł Stankiewicz, Ewa Bocian, Ewa Obersztyn, Zhishuo Ou, Sau Wai Cheung and Wei-Wen Cai

    Article first published online : 13 JUL 2007, DOI: 10.1002/ajmg.a.31845

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    Novel domains of expression for orphan receptor tyrosine kinase Ror2 in the human and mouse reproductive system

    Developmental Dynamics

    Volume 243, Issue 8, August 2014, Pages: 1037–1045, Ripla Arora, Eran Altman, Nam D. Tran and Diana J. Laird

    Article first published online : 6 MAY 2014, DOI: 10.1002/dvdy.24138

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    A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2655–2660, Ronen Spiegel, Yoseph Horovitz, Hartmut Peters, Fikret Erdogan, Ilana Chervinsky and Stavit A. Shalev

    Article first published online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33127

  19. ROR2 is a novel prognostic biomarker and a potential therapeutic target in leiomyosarcoma and gastrointestinal stromal tumour

    The Journal of Pathology

    Volume 227, Issue 2, June 2012, Pages: 223–233, Badreddin Edris, Iñigo Espinosa, Thomas Mühlenberg, Amanda Mikels, Cheng-Han Lee, Sonja E Steigen, Shirley Zhu, Kelli D Montgomery, Alexander JF Lazar, Dina Lev, Jonathan A Fletcher, Andrew H Beck, Robert B West, Roel Nusse and Matt van de Rijn

    Article first published online : 17 FEB 2012, DOI: 10.1002/path.3986

  20. You have full text access to this Open Access content
    Orphan receptor tyrosine kinase ROR2 as a potential therapeutic target for osteosarcoma

    Cancer Science

    Volume 100, Issue 7, July 2009, Pages: 1227–1233, Kazuhito Morioka, Chizu Tanikawa, Kensuke Ochi, Yataro Daigo, Toyomasa Katagiri, Hirotaka Kawano, Hiroshi Kawaguchi, Akira Myoui, Hideki Yoshikawa, Norifumi Naka, Nobuto Araki, Ikuo Kudawara, Makoto Ieguchi, Kozo Nakamura, Yusuke Nakamura and Koichi Matsuda

    Article first published online : 25 MAR 2009, DOI: 10.1111/j.1349-7006.2009.01165.x