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There are 132416 results for: content related to: Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

  1. You have free access to this content
    Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations

    Journal of Internal Medicine

    Volume 264, Issue 4, October 2008, Pages: 388–400, G. Carlsson, I. Van’t Hooft, M. Melin, M. Entesarian, E. Laurencikas, I. Nennesmo, A. Trębińska, E. Grzybowska, J. Palmblad, N. Dahl, M. Nordenskjöld, B. Fadeel and J-I Henter

    Version of Record online : 29 MAY 2008, DOI: 10.1111/j.1365-2796.2008.01982.x

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    Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia

    British Journal of Haematology

    Volume 144, Issue 4, February 2009, Pages: 459–467, Cornelia Zeidler, Manuela Germeshausen, Christoph Klein and Karl Welte

    Version of Record online : 17 DEC 2008, DOI: 10.1111/j.1365-2141.2008.07425.x

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    Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

    British Journal of Haematology

    Volume 158, Issue 3, August 2012, Pages: 363–369, Göran Carlsson, Anders Fasth, Elisabet Berglöf, Kristina Lagerstedt-Robinson, Magnus Nordenskjöld, Jan Palmblad, Jan-Inge Henter and Bengt Fadeel,

    Version of Record online : 25 MAY 2012, DOI: 10.1111/j.1365-2141.2012.09171.x

  4. Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

    Pediatric Blood & Cancer

    Volume 61, Issue 6, June 2014, Pages: 1041–1048, Gaëlle Roques, Martine Munzer, Marie-Anne Carpentier Barthez, Sandrine Beaufils, Blandine Beaupain, Terry Flood, Boris Keren, Christine Bellanné-Chantelot and Jean Donadieu

    Version of Record online : 30 JAN 2014, DOI: 10.1002/pbc.24964

  5. Pax1EGFP: New wildtype and mutant EGFP mouse lines for molecular and fate mapping studies

    genesis

    Volume 51, Issue 6, June 2013, Pages: 420–429, V. Sivakamasundari, Petra Kraus, Song Jie and Thomas Lufkin

    Version of Record online : 25 FEB 2013, DOI: 10.1002/dvg.22379

  6. Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?

    Acta Paediatrica

    Volume 102, Issue 1, January 2013, Pages: 78–82, Göran Carlsson, Berit Kriström, Magnus Nordenskj˶ld, Jan-Inge Henter and Bengt Fadeel

    Version of Record online : 11 DEC 2012, DOI: 10.1111/apa.12050

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    Exploring the anti-apoptotic role of HAX-1 versus BCL-XL in cytokine-dependent bone marrow-derived cells from mice

    FEBS Letters

    Volume 588, Issue 17, August 25, 2014, Pages: 2921–2927, Alicja Trebinska, Kari Högstrand, Alf Grandien, Ewa A. Grzybowska and Bengt Fadeel

    Version of Record online : 6 JUN 2014, DOI: 10.1016/j.febslet.2014.05.042

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    The sax1 dwarf mutant of Arabidopsis thaliana shows altered sensitivity of growth responses to abscisic acid, auxin, gibberellins and ethylene and is partially rescued by exogenous brassinosteroid

    The Plant Journal

    Volume 18, Issue 3, May 1999, Pages: 303–314, Geneviève Ephritikhine, Martin Fellner, Candida Vannini, Danielle Lapous and Hélène Barbier-Brygoo

    Version of Record online : 5 JAN 2002, DOI: 10.1046/j.1365-313X.1999.00454.x

  9. Hematopoietic stem cell transplantation in severe congenital neutropenia

    Pediatric Blood & Cancer

    Volume 56, Issue 3, March 2011, Pages: 444–451, G. Carlsson, J. Winiarski, P. Ljungman, O. Ringdén, J. Mattsson, M. Nordenskjöld, I. Touw, J.-I. Henter, J. Palmblad, B. Fadeel and H. Hägglund

    Version of Record online : 11 NOV 2010, DOI: 10.1002/pbc.22836

  10. HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3157–3163, Kaan Boztug, Xiao-Qi Ding, Hans Hartmann, Lena Ziesenitz, Alejandro A. Schäffer, Jana Diestelhorst, Dietmar Pfeifer, Giridharan Appaswamy, Sonja Kehbel, Thorsten Simon, Abdullah Al Jefri, Heinrich Lanfermann and Christoph Klein

    Version of Record online : 24 NOV 2010, DOI: 10.1002/ajmg.a.33748

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    HAX1 deficiency: Impact on lymphopoiesis and B-cell development

    European Journal of Immunology

    Volume 40, Issue 11, November 2010, Pages: 3161–3172, Doris Peckl-Schmid, Susanne Wolkerstorfer, Sebastian Königsberger, Gertrude Achatz-Straussberger, Stefan Feichtner, Elisabeth Schwaiger, Nadja Zaborsky, Michael Huemer, Iris K. Gratz, Roger Schibli, Marinus Lamers, Reto Crameri, Katrin Moser, Elke O Luger and Gernot Achatz

    Version of Record online : 24 SEP 2010, DOI: 10.1002/eji.200940221

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    Impacts of light and temperature on shoot branching gradient and expression of strigolactone synthesis and signalling genes in rose

    Plant, Cell & Environment

    Volume 37, Issue 3, March 2014, Pages: 742–757, SAMIA DJENNANE, LAURENCE HIBRAND-SAINT OYANT, KOJI KAWAMURA, DAVID LALANNE, MICHEL LAFFAIRE, TATIANA THOUROUDE, SÉVERINE CHALAIN, SOULAIMAN SAKR, RACHID BOUMAZA, FABRICE FOUCHER and NATHALIE LEDUC

    Version of Record online : 23 SEP 2013, DOI: 10.1111/pce.12191

  13. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 364–368, Anne M. Slavotinek, Ryan Chao, Tomas Vacik, Mani Yahyavi, Hana Abouzeid, Tanya Bardakjian, Adele Schneider, Gary Shaw, Elliott H. Sherr, Greg Lemke, Mohammed Youssef and Daniel F. Schorderet

    Version of Record online : 27 DEC 2011, DOI: 10.1002/humu.21658

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    Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds

    British Journal of Haematology

    Volume 144, Issue 5, March 2009, Pages: 762–770, Bradley N. Smith, Phil J. Ancliff, Arnold Pizzey, Asim Khwaja, David C. Linch and Rosemary E. Gale

    Version of Record online : 25 NOV 2008, DOI: 10.1111/j.1365-2141.2008.07493.x

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    Mutation analysis of the HAX1 gene in childhood myelodysplastic syndrome

    British Journal of Haematology

    Volume 145, Issue 4, May 2009, Pages: 533–534, Doris Steinemann, Inka Praulich, Noreen Otto, Gudrun Göhring, Charlotte M. Niemeyer and Brigitte Schlegelberger

    Version of Record online : 2 MAR 2009, DOI: 10.1111/j.1365-2141.2009.07634.x

  16. Molecular Characterization of dax1 and SF-1 and Their Expression Analysis During Sex Reversal in Spotted Scat, Scatophagus argus

    Journal of the World Aquaculture Society

    Volume 46, Issue 1, February 2015, Pages: 1–19, Jianhua Chen, Maoxian He, Binlun Yan, Junbin Zhang, Sichen Jin and Lu Liu

    Version of Record online : 23 FEB 2015, DOI: 10.1111/jwas.12165

  17. Insights into the genetics of severe congenital neutropenia

    Clinical Genetics

    Volume 72, Issue 4, October 2007, Pages: 308–310, RA Stein

    Version of Record online : 2 SEP 2007, DOI: 10.1111/j.1399-0004.2007.00872.x

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    Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

    British Journal of Haematology

    Volume 147, Issue 4, November 2009, Pages: 535–542, Jun Xia, Audrey A. Bolyard, Elin Rodger, Steve Stein, Andrew A. Aprikyan, David C. Dale and Daniel C. Link

    Version of Record online : 22 SEP 2009, DOI: 10.1111/j.1365-2141.2009.07888.x

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    Sensory analysis of calcium-biofortified lettuce

    Plant Biotechnology Journal

    Volume 7, Issue 1, January 2009, Pages: 106–117, Sunghun Park, Mark P. Elless, Jungeun Park, Alicia Jenkins, Wansang Lim, Edgar Chambers IV and Kendal D. Hirschi

    Version of Record online : 13 OCT 2008, DOI: 10.1111/j.1467-7652.2008.00379.x

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    The generation of vertebral segmental patterning in the chick embryo

    Journal of Anatomy

    Volume 220, Issue 6, June 2012, Pages: 591–602, Biruntha Senthinathan, Cátia Sousa, David Tannahill and Roger Keynes

    Version of Record online : 28 MAR 2012, DOI: 10.1111/j.1469-7580.2012.01497.x