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There are 11627 results for: content related to: Thirty-Nine Novel Neurofibromatosis 1 ( NF1) Gene Mutations Identified in Slovak Patients

  1. 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

  2. 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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    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

  4. 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

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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

  6. Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 541–550, Angelika C. Roehl, Tanja Mussotter, David N. Cooper, Lan Kluwe, Katharina Wimmer, Josef Högel, Marion Zetzmann, Julia Vogt, Victor-Felix Mautner and Hildegard Kehrer-Sawatzki

    Version of Record online : 23 JAN 2012, DOI: 10.1002/humu.22013

  7. 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

  8. Neurofibromatosis Type 1

    American Journal of Medical Genetics

    Volume 97, Issue 2, Summer 2000, Pages: 119–127, Kathryn North

    Version of Record online : 28 NOV 2000, DOI: 10.1002/1096-8628(200022)97:2<119::AID-AJMG3>3.0.CO;2-3

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

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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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    Quantification of NF1 transcripts reveals novel highly expressed splice variants

    FEBS Letters

    Volume 522, Issue 1-3, July 03, 2002, Pages: 71–76, Ina Vandenbroucke, Jo Vandesompele, Anne De Paepe and Ludwine Messiaen

    Version of Record online : 5 JUN 2002, DOI: 10.1016/S0014-5793(02)02887-9

  16. Low-grade gliomas as neurodevelopmental disorders: insights from mouse models of neurofibromatosis-1

    Neuropathology and Applied Neurobiology

    Volume 38, Issue 3, June 2012, Pages: 241–253, M. Thangarajh and D. H. Gutmann

    Version of Record online : 10 MAY 2012, DOI: 10.1111/j.1365-2990.2011.01230.x

  17. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1599–1609, Julia Vogt, Tanja Mussotter, Kathrin Bengesser, Kathleen Claes, Josef Högel, Nadia Chuzhanova, Chuanhua Fu, Jenneke van den Ende, Victor-Felix Mautner, David N. Cooper, Ludwine Messiaen and Hildegard Kehrer-Sawatzki

    Version of Record online : 20 AUG 2012, DOI: 10.1002/humu.22171

  18. Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 6, 15 March 2008, Pages: 691–699, Hildegard Kehrer-Sawatzki, Eva Schmid, Carsten Fünsterer, Lan Kluwe and Victor-Felix Mautner

    Version of Record online : 8 FEB 2008, DOI: 10.1002/ajmg.a.32045

  19. Analysis of NF1 transcriptional regulatory elements

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 2, 30 August 2005, Pages: 130–135, Tsz Kin (Bernard) Lee and J.M. Friedman

    Version of Record online : 29 JUL 2005, DOI: 10.1002/ajmg.a.30699

  20. Congenital disseminated neurofibromatosis type 1: A clinical and molecular case report

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 11, 1 June 2008, Pages: 1444–1452, H. Stewart, C. Bowker, S. Edees, S. Smalley, M. Crocker, D. Mechan, N. Forrester, G. Spurlock and M. Upadhyaya

    Version of Record online : 25 APR 2008, DOI: 10.1002/ajmg.a.32305