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  1. 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

    Article first published online : 25 JUN 2013, DOI: 10.1111/cge.12187

  2. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 401–410, M. Ruggieri, A. Polizzi, A. Spalice, V. Salpietro, R. Caltabiano, V. D'Orazi, P. Pavone, C. Pirrone, G. Magro, N. Platania, S. Cavallaro, M. Muglia and F. Nicita

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12498

  3. Cardiac characterization of 16 patients with large NF1 gene deletions

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 344–349, R Nguyen, TS Mir, L Kluwe, K Jett, M Kentsch, G Mueller, H Kehrer-Sawatzki, JM Friedman and V-F Mautner

    Article first published online : 28 DEC 2012, DOI: 10.1111/cge.12072

  4. Growth in neurofibromatosis 1 microdeletion patients

    Clinical Genetics

    X. Ning, S. Farschtschi, A. Jones, H. Kehrer-Sawatzki, V.-F. Mautner and J. M. Friedman

    Article first published online : 22 JUL 2015, DOI: 10.1111/cge.12632

  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

    Article first published online : 10 APR 2012, DOI: 10.1002/jcb.24088

  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

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22692

  7. Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care

    Clinical Genetics

    H.A. Crawford, B. Barton, M.J. Wilson, Y. Berman, V.J. McKelvey-Martin, P.J. Morrison and K.N. North

    Article first published online : 7 JUL 2015, DOI: 10.1111/cge.12627

  8. Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor

    Clinical Genetics

    C. Ejerskov, S. Farholt, F. Skovby, E.M. Vestergaard and A. Haagerup

    Article first published online : 15 MAY 2015, DOI: 10.1111/cge.12600

  9. 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

    Article first published online : 21 MAY 2015, DOI: 10.1002/jbmr.2538

  10. 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

    Article first published online : 9 DEC 2011, DOI: 10.1002/humu.21644

  11. You have free access to this content
    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

    Article first published online : 30 AUG 2012, DOI: 10.1111/j.1469-8749.2012.04399.x

  12. 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

    Article first published online : 6 AUG 2012, DOI: 10.1002/humu.22162

  13. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/gcc.21928

  14. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 386–389, E. Trevisson, M. Forzan, L. Salviati and M. Clementi

    Article first published online : 27 MAY 2013, DOI: 10.1111/cge.12177

  15. You have free access to this content
    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

    Article first published online : 15 JAN 2010, DOI: 10.1002/ajmg.a.33189

  16. 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

  17. 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

    Article first published online : 26 AUG 2013, DOI: 10.1002/humu.22392

  18. 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

    Article first published online : 22 APR 2015, DOI: 10.1111/pcmr.12369

  19. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

    Human Mutation

    Volume 31, Issue 6, June 2010, Pages: 742–751, Kathrin Bengesser, David N. Cooper, Katharina Steinmann, Lan Kluwe, Nadia A. Chuzhanova, Katharina Wimmer, Marcos Tatagiba, Sigrid Tinschert, Victor-Felix Mautner and Hildegard Kehrer-Sawatzki

    Article first published online : 6 APR 2010, DOI: 10.1002/humu.21254

  20. 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

    Article first published online : 3 MAR 2005, DOI: 10.1111/j.1399-0004.2005.00410.x