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There are 10525 results for: content related to: Further clinical delineation of the Börjeson–Forssman–Lehmann syndrome in patients with PHF6 mutations

  1. T-cell acute lymphoblastic leukemia in association with Börjeson–Forssman–Lehmann syndrome due to a mutation in PHF6

    Pediatric Blood & Cancer

    Volume 55, Issue 4, October 2010, Pages: 722–724, Mwe Mwe Chao, Matthew A. Todd, Udo Kontny, Katherine Neas, Michael J. Sullivan, Alasdair G. Hunter, David J. Picketts and Christian P. Kratz

    Article first published online : 5 MAY 2010, DOI: 10.1002/pbc.22574

  2. The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

    Clinical Genetics

    Volume 65, Issue 3, March 2004, Pages: 226–232, G Turner, KM Lower, SM White, M Delatycki, AK Lampe, M Wright, J Clayton- Smith, B Kerr, S Schelley, HE Hoyme, BBA De Vries, T Kleefstra, M Grompe, B Cox, J Gecz and M Partington

    Article first published online : 30 JAN 2004, DOI: 10.1111/j.0009-9163.2004.00215.x

  3. Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome

    Journal of Intellectual Disability Research

    Volume 53, Issue 4, April 2009, Pages: 319–328, C. F. De Winter, F. Van Dijk, J. J. Stolker and R. C. M. Hennekam

    Article first published online : 2 FEB 2009, DOI: 10.1111/j.1365-2788.2009.01156.x

  4. An unusual linear hypermelanosis reflecting lyonization in women with Börjeson–Forssman–Lehmann syndrome

    Journal of the European Academy of Dermatology and Venereology

    R. Happle

    Article first published online : 11 SEP 2014, DOI: 10.1111/jdv.12717

  5. Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 3, September 2014, Pages: 290–301, Christiane Zweier, Olaf Rittinger, Ingrid Bader, Siren Berland, Trevor Cole, Franziska Degenhardt, Nataliya Di Donato, Luitgard Graul-Neumann, Juliane Hoyer, Sally Ann Lynch, Ingrid Vlasak and Dagmar Wieczorek

    Article first published online : 5 AUG 2014, DOI: 10.1002/ajmg.c.31408

  6. Börjeson-Forssman-Lehmann syndrome: Further delineation in five cases

    American Journal of Medical Genetics

    Volume 19, Issue 4, December 1984, Pages: 653–664, Holly Hutchison Ardinger, James W. Hanson and Hans U. Zellweger

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320190405

  7. Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: Mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27

    American Journal of Medical Genetics

    Volume 100, Issue 1, 15 April 2001, Pages: 43–48, Karen M. Lower and Jozef Gecz

    Article first published online : 27 FEB 2001, DOI: 10.1002/ajmg.1189

  8. Börjeson-Forssman-Lehmann syndrome: Clinical manifestations and gene localization to Xq26-27

    American Journal of Medical Genetics

    Volume 34, Issue 4, December 1989, Pages: 463–469, Dr. Gillian Turner, Agi Gedeon, John Mulley, Grant Sutherland, John Rae, Keith Power and Ian Arthur

    Article first published online : 5 JUN 2005, DOI: 10.1002/ajmg.1320340402

  9. The Börjeson-Forssman-Lehmann syndrome

    American Journal of Medical Genetics

    Volume 15, Issue 3, July 1983, Pages: 457–468, Luther K. Robinson, Dr. Kenneth Lyons Jones, Floyd Culler, William L. Nyhan, Nadia Sakati, Kenneth Lee Jones and John M. Opitz

    Article first published online : 2 JUN 2005, DOI: 10.1002/ajmg.1320150311

  10. PHF6 mutations in T-lineage acute lymphoblastic leukemia

    Pediatric Blood & Cancer

    Volume 55, Issue 4, October 2010, Pages: 595–596, Linda Holmfeldt and Charles G. Mullighan

    Article first published online : 29 JUN 2010, DOI: 10.1002/pbc.22661

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    Epigenetics in T-cell acute lymphoblastic leukemia

    Immunological Reviews

    Volume 263, Issue 1, January 2015, Pages: 50–67, Sofie Peirs, Joni Van der Meulen, Inge Van de Walle, Tom Taghon, Frank Speleman, Bruce Poppe and Pieter Van Vlierberghe

    Article first published online : 15 DEC 2014, DOI: 10.1111/imr.12237

  12. Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation

    American Journal of Medical Genetics

    Volume 87, Issue 3, 26 November 1999, Pages: 258–261, Takeo Kubota, Satoko Oga, Hirofumi Ohashi, Yasuhiko Iwamoto and Yoshimitsu Fukushima

    Article first published online : 16 NOV 1999, DOI: 10.1002/(SICI)1096-8628(19991126)87:3<258::AID-AJMG12>3.0.CO;2-Q

  13. The molecular profile of adult T-cell acute lymphoblastic leukemia: Mutations in RUNX1 and DNMT3A are associated with poor prognosis in T-ALL

    Genes, Chromosomes and Cancer

    Volume 52, Issue 4, April 2013, Pages: 410–422, Vera Grossmann, Claudia Haferlach, Sandra Weissmann, Andreas Roller, Sonja Schindela, Franziska Poetzinger, Kathrin Stadler, Frauke Bellos, Wolfgang Kern, Torsten Haferlach, Susanne Schnittger and Alexander Kohlmann

    Article first published online : 23 JAN 2013, DOI: 10.1002/gcc.22039

  14. Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann syndrome

    American Journal of Medical Genetics

    Volume 64, Issue 1, 12 July 1996, Pages: 63–68, A. K. Gedeon, H. M. Kozman, H. Robinson, G. Pilia, D. Schlessinger, G. Turner and J. C. Mulley

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960712)64:1<63::AID-AJMG9>3.0.CO;2-S

  15. Cover Picture: J. Sep. Sci. 19/2009

    Journal of Separation Science

    Volume 32, Issue 19, October 2009,

    Article first published online : 23 SEP 2009, DOI: 10.1002/jssc.200990070

  16. Linkage localization of Börjeson-Forssman-Lehmann syndrome

    American Journal of Medical Genetics

    Volume 34, Issue 4, December 1989, Pages: 470–474, Katherine D. Mathews, Holly H. Ardinger, Darryl Y. Nishimura, Kenneth H. Buetow, Jeffrey C. Murray and James A. Bartley

    Article first published online : 5 JUN 2005, DOI: 10.1002/ajmg.1320340403

  17. Dermatoglyphics in Börjeson-Forssman-Lehmann syndrome

    American Journal of Medical Genetics

    Volume 21, Issue 2, June 1985, Pages: 401–404, Dr. David B. Flannery, Charles Piussan, Laura E. Wright, John M. Opitz and James F. Reynolds

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320210223

  18. You have free access to this content
    The Human Obesity Gene Map: The 2005 Update

    Obesity

    Volume 14, Issue 4, April 2006, Pages: 529–644, Tuomo Rankinen, Aamir Zuberi, Yvon C. Chagnon, S. John Weisnagel, George Argyropoulos, Brandon Walts, Louis Pérusse and Claude Bouchard

    Article first published online : 6 SEP 2012, DOI: 10.1038/oby.2006.71

  19. Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 3, September 2014, Pages: 241–251, Tomoki Kosho, Noriko Miyake and John C. Carey

    Article first published online : 28 AUG 2014, DOI: 10.1002/ajmg.c.31415

  20. Back Cover (Adv. Eng. Mater. 5/2010)

    Advanced Engineering Materials

    Volume 12, Issue 5, May 2010,

    Article first published online : 25 MAY 2010, DOI: 10.1002/adem.201090011