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There are 1430829 results for: content related to: Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

  1. 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

    Article first published online : 11 FEB 2003, DOI: 10.1002/ajmg.a.20012

  2. 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

    Article first published online : 18 JUL 2008, DOI: 10.1002/ajmg.a.32429

  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

    Article first published online : 16 NOV 2011, DOI: 10.1002/humu.21636

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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

    Article first published online : 15 JUN 2010, DOI: 10.1111/j.1755-148X.2010.00732.x

  5. 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

    Article first published online : 23 OCT 2001, DOI: 10.1002/ajmg.10092

  6. Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 23, 1 December 2008, Pages: 3070–3074, Yoriko Watanabe, Haruya Sakai, Akira Nishimura, Noriko Miyake, Hirotomo Saitsu, Takeshi Mizuguchi and Naomichi Matsumoto

    Article first published online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32567

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    Wide spectrum of tumors in knock-in mice carrying a Cdk4 protein insensitive to INK4 inhibitors

    The EMBO Journal

    Volume 20, Issue 23, December 3, 2001, Pages: 6637–6647, Roco Sotillo, Pierre Dubus, Javier Martn, Ernesto de la Cueva, Sagrario Ortega, Marcos Malumbres and Mariano Barbacid

    Article first published online : 3 DEC 2001, DOI: 10.1093/emboj/20.23.6637

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    The antibody to GD3 ganglioside, R24, is rapidly endocytosed and recycled to the plasma membrane via the endocytic recycling compartment

    FEBS Journal

    Volume 273, Issue 8, April 2006, Pages: 1744–1758, Ramiro Iglesias-Bartolomé, Pilar M. Crespo, Guillermo A. Gomez and Jose L. Daniotti

    Article first published online : 24 MAR 2006, DOI: 10.1111/j.1742-4658.2006.05194.x

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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

    Article first published online : 21 APR 2011, DOI: 10.1002/ijc.25913

  10. Identification and characterization of the mitochondrial targeting sequence and mechanism in human citrate synthase

    Journal of Cellular Biochemistry

    Volume 107, Issue 5, 1 August 2009, Pages: 1002–1015, Tsung-Lin Cheng, Ching-Chun Liao, Wen-Hui Tsai, Chin-Chih Lin, Chin-Wei Yeh, Chiao-Fang Teng and Wen-Tsan Chang

    Article first published online : 28 MAY 2009, DOI: 10.1002/jcb.22200

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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

    Article first published online : 13 JAN 2011, DOI: 10.1111/j.1471-4159.2010.07071.x

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    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

    Article first published online : 10 NOV 2010, DOI: 10.1111/j.1349-7006.2010.01771.x

  13. 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

    Article first published online : 19 SEP 2014, DOI: 10.1002/ijc.29186

  14. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2297–2301, Casey M. Rand, Min Yu, Lawrence J. Jennings, Kelvin Panesar, Elizabeth M. Berry-Kravis, Lili Zhou and Debra E. Weese-Mayer

    Article first published online : 20 JUL 2012, DOI: 10.1002/ajmg.a.35499

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    The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor

    FEBS Journal

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

    Article first published online : 17 MAY 2007, DOI: 10.1111/j.1742-4658.2007.05835.x

    Corrected by:


    Vol. 274, Issue 15, 4008, Article first published online: 19 JUL 2007

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    Complex gangliosides are apically sorted in polarized MDCK cells and internalized by clathrin-independent endocytosis

    FEBS Journal

    Volume 275, Issue 23, December 2008, Pages: 6043–6056, Pilar M. Crespo, Natalia von Muhlinen, Ramiro Iglesias-Bartolomé and Jose L. Daniotti

    Article first published online : 30 OCT 2008, DOI: 10.1111/j.1742-4658.2008.06732.x

  17. Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 2, 1 December 2004, Pages: 179–185, Yasmin Mehraein, Sandra Ehlhardt, Arnold Wagner, Elisabeth Göttert, Wolfgang Tilgen, Klaus D. Zang and Dorothee Dill-Müller

    Article first published online : 2 NOV 2004, DOI: 10.1002/ajmg.a.30370

  18. Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 215–226, Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N. Cooper and Hildegard Kehrer-Sawatzki

    Article first published online : 2 DEC 2013, DOI: 10.1002/humu.22473

  19. Somatic TP53 mutation mosaicism in a patient with Li–Fraumeni syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 2, February 2009, Pages: 206–211, Kamila Prochazkova, Kristyna Pavlikova, Marek Minarik, David Sumerauer, Roman Kodet and Zdenek Sedlacek

    Article first published online : 14 NOV 2008, DOI: 10.1002/ajmg.a.32574

  20. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 611–618, Chiara Castronovo, Daniela Rusconi, Milena Crippa, Daniela Giardino, Cristina Gervasini, Donatella Milani, Anna Cereda, Lidia Larizza, Angelo Selicorni and Palma Finelli

    Article first published online : 22 JAN 2013, DOI: 10.1002/ajmg.a.35814