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There are 10985 results for: content related to: Multiple increased osteoclast functions in individuals with neurofibromatosis type 1

  1. 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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    Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence

    Developmental Medicine & Child Neurology

    Volume 55, Issue 2, February 2013, Pages: 111–125, ANNUKKA LEHTONEN, EMMA HOWIE, DOROTHY TRUMP and SUSAN M HUSON

    Version of Record online : 30 AUG 2012, DOI: 10.1111/j.1469-8749.2012.04399.x

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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

  4. 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

  5. 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

  6. 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

  8. 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

  9. Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 171, Issue 3, April 2016, Pages: 348–362, Ellen Plasschaert, Lien Van Eylen, Mie-Jef Descheemaeker, Ilse Noens, Eric Legius and Jean Steyaert

    Version of Record online : 15 JAN 2016, DOI: 10.1002/ajmg.b.32414

  10. 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

  11. NF1 modulates the effects of ras oncogenes: Evidence of other NF1 function besides its GAP activity

    Journal of Cellular Physiology

    Volume 197, Issue 2, November 2003, Pages: 214–224, Teresa Corral, María Jiménez, Inmaculada Hernández-Muñoz, Ignacio Pérez de Castro and Angel Pellicer

    Version of Record online : 16 JUL 2003, DOI: 10.1002/jcp.10349

  12. 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

  13. 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

  14. 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

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    Application of the International Classification of Functioning, Disability and Health in children with neurofibromatosis type 1: a review

    Developmental Medicine & Child Neurology

    Volume 52, Issue 7, July 2010, Pages: 612–619, YAFIT GILBOA, SARA ROSENBLUM, AVIVA FATTAL-VALEVSKI and NAOMI JOSMAN

    Version of Record online : 19 FEB 2010, DOI: 10.1111/j.1469-8749.2010.03624.x

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    Back to the future: Proceedings from the 2010 NF Conference

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Pages: 307–321, Susan M. Huson, Maria T. Acosta, Allan J. Belzberg, Andre Bernards, Jonathan Chernoff, Karen Cichowski, D. Gareth Evans, Rosalie E. Ferner, Marco Giovannini, Bruce R. Korf, Robert Listernick, Kathryn N. North, Roger J. Packer, Luis F. Parada, Juha Peltonen, Vijaya Ramesh, Karlyne M. Reilly, John W. Risner, Elizabeth K. Schorry, Meena Upadhyaya, David H. Viskochil, Yuan Zhu, Kim Hunter-Schaedle and Filippo G. Giancotti

    Version of Record online : 22 DEC 2010, DOI: 10.1002/ajmg.a.33804

  17. Neurofibromatosis 1 (NF1) heterozygosity results in a cell-autonomous growth advantage for astrocytes

    Glia

    Volume 33, Issue 4, 15 March 2001, Pages: 314–323, Michaela Livia Bajenaru, Jessica Donahoe, Teresa Corral, Karlyne M. Reilly, Sean Brophy, Angel Pellicer and David H. Gutmann

    Version of Record online : 21 FEB 2001, DOI: 10.1002/1098-1136(20010315)33:4<314::AID-GLIA1030>3.0.CO;2-Q

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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

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    NF1/X represses PDGF A-chain transcription by interacting with Sp1 and antagonizing Sp1 occupancy of the promoter

    The EMBO Journal

    Volume 21, Issue 3, February 1, 2002, Pages: 334–343, Louise A. Rafty, Fernando S. Santiago and Levon M. Khachigian

    Version of Record online : 1 FEB 2002, DOI: 10.1093/emboj/21.3.334