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There are 7928500 results for: content related to: Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

  1. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

    American Journal of Medical Genetics

    Volume 104, Issue 4, 15 December 2001, Pages: 277–281, Gianni Camera, Maurizia Baldi, Giuseppe Strisciuglio, Daniela Concolino, Pierpaolo Mastroiacovo and Maria Baffico

    Version of Record online : 23 OCT 2001, DOI: 10.1002/ajmg.10092

  2. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 2, 15 July 2003, Pages: 157–168, Valentine J. Hyland, Stephen P. Robertson, Simon Flanagan, Ravi Savarirayan, Tony Roscioli, John Masel, Mark Hayes and Ian A. Glass

    Version of Record online : 11 FEB 2003, DOI: 10.1002/ajmg.a.20012

  3. Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 29–41, Silvie Foldynova-Trantirkova, William R. Wilcox and Pavel Krejci

    Version of Record online : 16 NOV 2011, DOI: 10.1002/humu.21636

  4. An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 17, 1 September 2008, Pages: 2275–2279, Alejandro García-Vargas, Christian Hafner, Adriana G. Pérez-Rodríguez, L. Ximena Rodríguez-Rojas, Pedro González-Esqueda, Robert Stoehr, Mercedes Hernández-Torres and Rudolf Happle

    Version of Record online : 18 JUL 2008, DOI: 10.1002/ajmg.a.32429

  5. You have free access to this content
    The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor

    The FEBS Journal

    Volume 274, Issue 12, June 2007, Pages: 3078–3093, Jacky Bonaventure, Linda Gibbs, William C. Horne and Roland Baron

    Version of Record online : 17 MAY 2007, DOI: 10.1111/j.1742-4658.2007.05835.x

    Corrected by:


    Vol. 274, Issue 15, 4008, Version of Record online: 19 JUL 2007

  6. The new bone biology: Pathologic, molecular, and clinical correlates

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2646–2706, M. Michael Cohen Jr.

    Version of Record online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31368

  7. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1

    American Journal of Medical Genetics Part A

    Volume 170, Issue 6, June 2016, Pages: 1573–1579, Amanda S. Lindy, Monica J. Basehore, Mumingjiang Munisha, Aimee Leanne Williams, Michael J. Friez, Karin Writzl, Patrick Willems and Scott T. Dougan

    Version of Record online : 30 MAR 2016, DOI: 10.1002/ajmg.a.37609

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    Loss of nuclear receptor RXRα in epidermal keratinocytes promotes the formation of Cdk4-activated invasive melanomas

    Pigment Cell & Melanoma Research

    Volume 23, Issue 5, October 2010, Pages: 635–648, Stephen Hyter, Gaurav Bajaj, Xiaobo Liang, Mariano Barbacid, Gitali Ganguli-Indra and Arup Kumar Indra

    Version of Record online : 15 JUN 2010, DOI: 10.1111/j.1755-148X.2010.00732.x

  9. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2385–2389, D.K. Waller, A. Correa, Tuan M. Vo, Y. Wang, C. Hobbs, P.H. Langlois, K. Pearson, P.A. Romitti, G.M. Shaw and J.T. Hecht

    Version of Record online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32485

  10. Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism

    British Journal of Dermatology

    Volume 156, Issue 6, June 2007, Pages: 1353–1356, B. Collin, I.B. Taylor, A.O.M. Wilkie and C. Moss

    Version of Record online : 17 APR 2007, DOI: 10.1111/j.1365-2133.2007.07869.x

  11. Fetal Skeletal Anomalies

    Clinical Obstetrics: The Fetus & Mother, Third Edition

    Luís F. Gonçalves, Patricia L. Devers, Jimmy Espinoza, Roberto Romero, Pages: 401–472, 2008

    Published Online : 14 JAN 2008, DOI: 10.1002/9780470753293.ch26

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    Neonatal UVB exposure accelerates melanoma growth and enhances distant metastases in Hgf-Cdk4R24C C57BL/6 mice

    International Journal of Cancer

    Volume 129, Issue 2, 15 July 2011, Pages: 285–294, Evelyn Gaffal, Jennifer Landsberg, Tobias Bald, Alexander Sporleder, Judith Kohlmeyer and Thomas Tüting

    Version of Record online : 21 APR 2011, DOI: 10.1002/ijc.25913

  13. R248Q mutation—Beyond p53-DNA binding

    Proteins: Structure, Function, and Bioinformatics

    Volume 83, Issue 12, December 2015, Pages: 2240–2250, Jeremy W. K. Ng, Dilraj Lama, Suryani Lukman, David P. Lane, Chandra S. Verma and Adelene Y. L. Sim

    Version of Record online : 27 OCT 2015, DOI: 10.1002/prot.24940

  14. FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2426–2435, Angeliki Hatzaki, Stavros Sifakis, Despina Apostolopoulou, Dimitra Bouzarelou, Anastasia Konstantinidou, Dimitra Kappou, Apostolos Sideris, Emmanouil Tzortzis, Apostolos Athanassiadis, Lina Florentin, Perikles Theodoropoulos, Constantinos Makatsoris, Charalambos Karadimas and Voula Velissariou

    Version of Record online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34189

  15. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I


    Volume 33, Issue 6, December 2013, Pages: 663–666, Kyoko Itoh, Ritsuko Pooh, Yonehiro Kanemura, Mami Yamasaki and Shinji Fushiki

    Version of Record online : 1 APR 2013, DOI: 10.1111/neup.12036

  16. First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia

    Prenatal Diagnosis

    Volume 30, Issue 12-13, December 2010, Pages: 1222–1223, Sophie Delahaye, Jonathan Rosenblatt, Jean-Marc Costa, Anne Bazin, Jean-Louis Bénifla and Jean-Marie Jouannic

    Version of Record online : 14 OCT 2010, DOI: 10.1002/pd.2638

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    Ganglioside GD3 monoclonal antibody-induced paxillin tyrosine phosphorylation and filamentous actin assembly in cerebellar growth cones

    Journal of Neurochemistry

    Volume 116, Issue 5, March 2011, Pages: 845–850, Kohei Yuyama, Naoko Sekino-Suzuki, Naomasa Yamamoto and Kohji Kasahara

    Version of Record online : 13 JAN 2011, DOI: 10.1111/j.1471-4159.2010.07071.x

  18. You have full text access to this Open Access content
    The idiotype (Id) cascade in mice elicited the production of anti-R24 Id and anti-anti-Id monoclonal antibodies with antitumor and protective activity against human melanoma

    Cancer Science

    Volume 102, Issue 1, January 2011, Pages: 64–70, Angelita S. Ramos, Carolina B. Parise, Luiz R. Travassos, Sang W. Han, Pedro O. de Campos-Lima and Jane Z. de Moraes

    Version of Record online : 10 NOV 2010, DOI: 10.1111/j.1349-7006.2010.01771.x

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    Mutant p53 promotes epithelial-mesenchymal plasticity and enhances metastasis in mammary carcinomas of WAP-T mice

    International Journal of Cancer

    Volume 136, Issue 6, 15 March 2015, Pages: E521–E533, Eva Lenfert, Claudia Maenz, Christina Heinlein, Katharina Jannasch, Udo Schumacher, Klaus Pantel, Genrich V. Tolstonog, Wolfgang Deppert and Florian Wegwitz

    Version of Record online : 19 SEP 2014, DOI: 10.1002/ijc.29186

  20. You have full text access to this OnlineOpen article
    Growth and development in thanatophoric dysplasia – an update 25 years later

    Clinical Case Reports

    Volume 1, Issue 2, December 2013, Pages: 75–78, Sarah M. Nikkel, Nathalie Major and W. James. King

    Version of Record online : 15 NOV 2013, DOI: 10.1002/ccr3.29