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There are 27692 results for: content related to: Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1

  1. You have free access to this content
    NF1 mRNA biogenesis: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region

    FEBS Letters

    Volume 580, Issue 18, August 07, 2006, Pages: 4449–4456, Marco Baralle, Natasa Skoko, Anna Knezevich, Laura De Conti, Dario Motti, Madhuri Bhuvanagiri, Diana Baralle, Emanuele Buratti and Francisco E. Baralle

    Version of Record online : 14 JUL 2006, DOI: 10.1016/j.febslet.2006.07.018

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    The pathological splicing mutation c.6792C > G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors

    FEBS Letters

    Volume 582, Issue 15, June 25, 2008, Pages: 2231–2236, Natasa Skoko, Marco Baralle, Emanuele Buratti and Francisco E. Baralle

    Version of Record online : 27 MAY 2008, DOI: 10.1016/j.febslet.2008.05.018

  3. NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1510–1518, Audrey Sabbagh, Eric Pasmant, Apolline Imbard, Armelle Luscan, Magali Soares, Hélène Blanché, Ingrid Laurendeau, Salah Ferkal, Michel Vidaud, Stéphane Pinson, Christine Bellanné-Chantelot, Dominique Vidaud, the members of the NF France Network, Béatrice Parfait and Pierre Wolkenstein

    Version of Record online : 26 AUG 2013, DOI: 10.1002/humu.22392

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    What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: New Frontiers

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 269–283, Joseph L. Kissil, Jaishri O. Blakeley, Rosalie E. Ferner, Susan M. Huson, Michel Kalamarides, Victor-Felix Mautner, Frank McCormick, Helen Morrison, Roger Packer, Vijaya Ramesh, Nancy Ratner, Katherine A. Rauen, David A. Stevenson, Kim Hunter-Schaedle and Kathryn North

    Version of Record online : 15 JAN 2010, DOI: 10.1002/ajmg.a.33189

  5. Phenotypic characterization of transgenic mice harboring Nf1+/− or Nf1−/− osteoclasts in otherwise Nf1+/+ background

    Journal of Cellular Biochemistry

    Volume 113, Issue 6, June 2012, Pages: 2136–2146, Maria H. Alanne, Elina Siljamäki, Sirkku Peltonen, Kalervo Väänänen, Jolene J. Windle, Luis F. Parada, Jorma A. Määttä and Juha Peltonen

    Version of Record online : 10 APR 2012, DOI: 10.1002/jcb.24088

  6. Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?

    Clinical Genetics

    Volume 67, Issue 5, May 2005, Pages: 378–390, S Alwan, SJ Tredwell and JM Friedman

    Version of Record online : 3 MAR 2005, DOI: 10.1111/j.1399-0004.2005.00410.x

  7. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 318–327, R. van Minkelen, Y. van Bever, J.N.R. Kromosoeto, C.J. Withagen-Hermans, A. Nieuwlaat, D.J.J. Halley and A.M.W. van den Ouweland

    Version of Record online : 25 JUN 2013, DOI: 10.1111/cge.12187

  8. Identification of Large NF1 Duplications Reciprocal to NAHR-Mediated Type-1 NF1 Deletions

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1469–1475, Hildegard Kehrer-Sawatzki, Kathrin Bengesser, Tom Callens, Fady Mikhail, Chuanhua Fu, Morten Hillmer, Martha E. Walker, Howard M. Saal, Yves Lacassie, David N. Cooper and Ludwine Messiaen

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22692

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    Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2327–2338, Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, David H. Viskochil, Janet M. Hock, Elizabeth K. Schorry, Alvin H. Crawford, Jan M. Friedman, David Little, Juha Peltonen, John C. Carey, David Feldman, Xijie Yu, Linlea Armstrong, Patricia Birch, David L. Kendler, Stefan Mundlos, Feng-Chun Yang, Gina Agiostratidou, Kim Hunter-Schaedle and David A. Stevenson

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33045

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    A murine model of neurofibromatosis type 1 tibial pseudarthrosis featuring proliferative fibrous tissue and osteoclast-like cells

    Journal of Bone and Mineral Research

    Volume 27, Issue 1, January 2012, Pages: 68–78, Jad El-Hoss, Kate Sullivan, Tegan Cheng, Nicole YC Yu, Justin D Bobyn, Lauren Peacock, Kathy Mikulec, Paul Baldock, Ian E Alexander, Aaron Schindeler and David G Little

    Version of Record online : 22 DEC 2011, DOI: 10.1002/jbmr.528

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    Nf1 Haploinsufficiency Alters Myeloid Lineage Commitment and Function, Leading to Deranged Skeletal Homeostasis

    Journal of Bone and Mineral Research

    Volume 30, Issue 10, October 2015, Pages: 1840–1851, Steven D Rhodes, Hao Yang, Ruizhi Dong, Keshav Menon, Yongzheng He, Zhaomin Li, Shi Chen, Karl W Staser, Li Jiang, Xiaohua Wu, Xianlin Yang, Xianghong Peng, Khalid S Mohammad, Theresa A Guise, Mingjiang Xu and Feng-Chun Yang

    Version of Record online : 21 MAY 2015, DOI: 10.1002/jbmr.2538

  12. Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 372–383, Antje M. Zickler, Stephanie Hampp, Ludwine Messiaen, Kathrin Bengesser, Tanja Mussotter, Angelika C. Roehl, Katharina Wimmer, Victor-Felix Mautner, Lan Kluwe, Meena Upadhyaya, Eric Pasmant, Nadia Chuzhanova, Hans A. Kestler, Josef Högel, Eric Legius, Kathleen Claes, David N. Cooper and Hildegard Kehrer-Sawatzki

    Version of Record online : 9 DEC 2011, DOI: 10.1002/humu.21644

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    Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients

    Annals of Human Genetics

    Volume 77, Issue 5, September 2013, Pages: 364–379, Martina Nemethova, Anna Bolcekova, Denisa Ilencikova, Darina Durovcikova, Katarina Hlinkova, Anna Hlavata, Laszlo Kovacs, Ludevit Kadasi and Andrea Zatkova

    Version of Record online : 11 JUN 2013, DOI: 10.1111/ahg.12026

  14. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1687–1696, Laura Thomas, Mark Richards, Matthew Mort, Elaine Dunlop, David N. Cooper and Meena Upadhyaya

    Version of Record online : 6 AUG 2012, DOI: 10.1002/humu.22162

  15. Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors

    Genes, Chromosomes and Cancer

    Volume 51, Issue 5, May 2012, Pages: 429–437, Douglas R. Stewart, Alexander Pemov, Peter Van Loo, Eline Beert, Hilde Brems, Raf Sciot, Kathleen Claes, Evgenia Pak, Amalia Dutra, Chyi-Chia Richard Lee and Eric Legius

    Version of Record online : 17 JAN 2012, DOI: 10.1002/gcc.21928

  16. NF1 loss induces senescence during human melanocyte differentiation in an iPSC-based model

    Pigment Cell & Melanoma Research

    Volume 28, Issue 4, July 2015, Pages: 407–416, Lionel Larribere, Huizi Wu, Daniel Novak, Marta Galach, Mathias Bernhardt, Elias Orouji, Kasia Weina, Nathalie Knappe, Christos Sachpekidis, Ludmila Umansky, Philipp Beckhove, Viktor Umansky, Sofie De Schepper, Dieter Kaufmann, Robert Ballotti, Corine Bertolotto and Jochen Utikal

    Version of Record online : 22 APR 2015, DOI: 10.1111/pcmr.12369

  17. Neurofibromin: a general outlook

    Clinical Genetics

    Volume 70, Issue 1, July 2006, Pages: 1–13, AB Trovó-Marqui and EH Tajara

    Version of Record online : 23 JUN 2006, DOI: 10.1111/j.1399-0004.2006.00639.x

  18. Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1467–1473, Irene Bottillo, Isabella Torrente, Valentina Lanari, Valentina Pinna, Sandra Giustini, Luigina Divona, Alessandro De Luca and Bruno Dallapiccola

    Version of Record online : 11 MAY 2010, DOI: 10.1002/ajmg.a.33386

  19. The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2225–2232, Maria T. Acosta, Carrie E. Bearden, Xavier F. Castellanos, Laurie Cutting, Ype Elgersma, Gerard Gioia, David H. Gutmann, Yong-Seok Lee, Eric Legius, Maximillian Muenke, Kathryn North, Luis F. Parada, Nancy Ratner, Kim Hunter-Schaedle and Alcino J. Silva

    Version of Record online : 20 JUL 2012, DOI: 10.1002/ajmg.a.35535

  20. Tumorigenic properties of neurofibromin-deficient Schwann cells in culture and as syngrafts in Nf1 knockout mice

    Journal of Neuroscience Research

    Volume 82, Issue 3, 1 November 2005, Pages: 357–367, Min Wu, Margaret R. Wallace and David Muir

    Version of Record online : 22 SEP 2005, DOI: 10.1002/jnr.20646