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There are 10756 results for: content related to: Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

  1. 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

    Version of Record online : 16 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01683.x

  2. 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

    Version of Record online : 16 MAY 2005, DOI: 10.1002/ajmg.1320590104

  3. 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

    Version of Record online : 25 JUL 2002, DOI: 10.1002/ajmg.10555

  4. 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

    Version of Record online : 13 NOV 2009, DOI: 10.1002/dvdy.22156

  5. 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

    Version of Record online : 26 JAN 2007, DOI: 10.1002/ajmg.a.31592

  6. 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

    Version of Record online : 4 JUN 2003, DOI: 10.1002/humu.10233

  7. Robinow syndrome: report of two patients and review of literature

    Clinical Genetics

    Volume 31, Issue 2, February 1987, Pages: 77–85, Merlin G. Butler and William B. Wadlington

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1987.tb02773.x

  8. 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

    Version of Record online : 10 JUN 2005, DOI: 10.1002/ajmg.a.30785

  9. 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

    Volume 167, Issue 12, December 2015, Pages: 3054–3061, 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

    Version of Record online : 18 AUG 2015, DOI: 10.1002/ajmg.a.37287

  10. Metacarpophalangeal pattern profile analysis in Robinow syndrome

    American Journal of Medical Genetics

    Volume 27, Issue 1, May 1987, Pages: 219–223, Dr. Merlin G. Butler, David D. Gale, F. John Meaney, William B. Wadlington, Meinhard Robinow, John M. Opitz and James F. Reynolds

    Version of Record online : 9 JUN 2005, DOI: 10.1002/ajmg.1320270125

  11. Robinow (fetal face) syndrome: Report of a boy with dominant type and an infant with recessive type

    American Journal of Medical Genetics

    Volume 84, Issue 1, 7 May 1999, Pages: 1–7, Piranit N. Kantaputra, Robert J. Gorlin, Nuthapong Ukarapol, Kevalee Unachak and Jutamas Sudasna

    Version of Record online : 7 APR 1999, DOI: 10.1002/(SICI)1096-8628(19990507)84:1<1::AID-AJMG1>3.0.CO;2-C

  12. Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports

    Clinical Genetics

    Volume 52, Issue 4, October 1997, Pages: 226–230, Sadik Akçit, Haul Aydinlioǧlu, Gülşen Dizdarer, Suat Çaǧlayan, Dilber Bektaşlar and Ayşe Cin

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1997.tb02552.x

  13. 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

    Version of Record online : 24 MAY 2014, DOI: 10.1111/cge.12401

  14. 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

    Version of Record online : 19 FEB 2009, DOI: 10.1111/j.1399-0004.2008.01114.x

  15. Congenital heart disease in Robinow syndrome

    American Journal of Medical Genetics

    Volume 77, Issue 4, 26 May 1998, Pages: 332–333, Jameel Al-Ata, Marc Paquet and Ahmad S. Teebi

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980526)77:4<332::AID-AJMG16>3.0.CO;2-J

  16. Robinow syndrome: Report of two cases and review of the literature

    Australasian Radiology

    Volume 51, Issue 1, February 2007, Pages: 83–86, A Al Kaissi, 1 T Bieganski, 3 D Baranska, 3 FB Chehida, 1,2 H Gharbi, 2 MB Ghachem, 1 L Hendaoui, 2 H Safi and 1 K Kozlowski 4

    Version of Record online : 9 JAN 2007, DOI: 10.1111/j.1440-1673.2006.01668.x

  17. Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies

    American Journal of Medical Genetics

    Volume 30, Issue 3, July 1988, Pages: 709–718, Howard M. Saal, Robert M. Greenstein, Paul J. Weinbaum and Dr. Andrew E. Poole

    Version of Record online : 8 JUN 2005, DOI: 10.1002/ajmg.1320300303

  18. 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

    Version of Record online : 9 JAN 2004, DOI: 10.1002/dvdy.10466

  19. Robinow syndrome: report of two patients with cystic kidney disease

    Clinical Genetics

    Volume 37, Issue 6, June 1990, Pages: 481–484, Lynn Wiens, D. K. Strickland, Barbara Sniffen and Bradley A. Warady

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1990.tb03534.x

  20. Prenatal diagnosis of robinow syndrome: A case report

    Journal of Clinical Ultrasound

    Volume 42, Issue 5, June 2014, Pages: 297–300, Simon Castro, Efren Peraza, Astrid Barraza and Marco Zapata

    Version of Record online : 22 OCT 2013, DOI: 10.1002/jcu.22103