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There are 17118 results for: content related to: Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism

  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

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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

  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

  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. 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

  6. 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

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    Germline and somatic NF1 gene mutations in plexiform neurofibromas

    Human Mutation

    Volume 29, Issue 8, August 2008, Pages: E103–E111, Meena Upadhyaya, Gill Spurlock, Bisma Monem, Nick Thomas, Reinhard E. Friedrich, Lan Kluwe and Victor Mautner

    Version of Record online : 16 MAY 2008, DOI: 10.1002/humu.20793

  8. 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

  9. 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

  10. 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

  11. 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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    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

  13. 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

    Version of Record online : 22 NOV 2014, DOI: 10.1111/cge.12498

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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

  15. 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

  16. 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

  17. Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

    Human Mutation

    Volume 27, Issue 10, October 2006, Pages: 1030–1040, Ophélia Maertens, Hilde Brems, Jo Vandesompele, Thomas De Raedt, Ine Heyns, Thorsten Rosenbaum, Sofie De Schepper, Anne De Paepe, Geert Mortier, Sandra Janssens, Frank Speleman, Eric Legius and Ludwine Messiaen

    Version of Record online : 28 AUG 2006, DOI: 10.1002/humu.20389

  18. 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

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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

  20. Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma

    Genes, Chromosomes and Cancer

    Volume 51, Issue 9, September 2012, Pages: 852–857, Eline Beert, Hilde Brems, Marleen Renard, Julio Finalet Ferreiro, Cindy Melotte, Reinhilde Thoelen, Ivo De Wever, Raf Sciot, Eric Legius and Maria Debiec-Rychter

    Version of Record online : 14 MAY 2012, DOI: 10.1002/gcc.21969