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There are 23744 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. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. You have free access to this content
    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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. You have free access to this content
    The Human Obesity Gene Map: The 2003 Update

    Obesity Research

    Volume 12, Issue 3, March 2004, Pages: 369–439, Eric E. Snyder, Brandon Walts, Louis Pérusse, Yvon C. Chagnon, S. John Weisnagel, Tuomo Rankinen and Claude Bouchard

    Article first published online : 6 SEP 2012, DOI: 10.1038/oby.2004.47

  14. 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

  15. 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

  16. Mesiodens, a new microform of holoprosencephaly?

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 2, February 2009, Pages: 268–271, Man Yee Chan, Keivan Shifteh and Alan L. Shanske

    Article first published online : 22 JAN 2009, DOI: 10.1002/ajmg.a.32604

  17. You have free access to this content
    The Human Obesity Gene Map: The 2002 Update

    Obesity Research

    Volume 11, Issue 3, March 2003, Pages: 313–367, Yvon C. Chagnon, Tuomo Rankinen, Eric E. Snyder, S. John Weisnagel, Louis Pérusse and Claude Bouchard

    Article first published online : 6 SEP 2012, DOI: 10.1038/oby.2003.47

  18. Fat chance: genetic syndromes with obesity

    Clinical Genetics

    Volume 66, Issue 2, August 2004, Pages: 83–93, M-A Delrue and JL Michaud

    Article first published online : 14 JUL 2004, DOI: 10.1111/j.0009-9163.2004.00300.x

  19. Intellectual Disability: Genetics

    Standard Article

    eLS

    Samantha JL Knight

    Published Online : 15 DEC 2008, DOI: 10.1002/9780470015902.a0005515.pub2

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    T-cell acute lymphoblastic leukaemia: recent molecular biology findings

    British Journal of Haematology

    Volume 156, Issue 3, February 2012, Pages: 303–315, Monika D. Kraszewska, Małgorzata Dawidowska, Tomasz Szczepański and Michał Witt

    Article first published online : 7 DEC 2011, DOI: 10.1111/j.1365-2141.2011.08957.x