Torthaí cuardaigh - Erich Roessler

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  1. 1
    The molecular genetics of holoprosencephaly

    The molecular genetics of holoprosencephaly de réir Erich Roessler, Maximilian Muenke

    Foilsithe / Cruthaithe 2010
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  2. 2
    Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene × gene interactions

    Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene × gene i... de réir Erich Roessler, Jorge I. Vélez, Nan Zhou, Maximilian Muenke

    Foilsithe / Cruthaithe 2012
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  3. 3
    Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

    Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients de réir Daniel Pineda‐Alvarez, Christèle Dubourg, Véronique David, Erich Roessler, Maximilian Muenke

    Foilsithe / Cruthaithe 2010
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  4. 4
    A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers

    A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers de réir Yongsu Jeong, Kênia Balbi El-Jaick, Erich Roessler, Maximilian Muenke, Douglas J. Epstein

    Foilsithe / Cruthaithe 2006
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  5. 5
    CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle

    CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle de réir Elizabeth Goldmuntz, Richard N. Bamford, Jayaprakash D. Karkera, June dela Cruz, Erich Roessler, Maximilian Muenke

    Foilsithe / Cruthaithe 2002
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  6. 6
    Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

    Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors de réir Gyu‐Un Bae, Sabina Domené, Erich Roessler, Karen A. Schachter, Jong‐Sun Kang, Maximilian Muenke, Robert S. Krauss

    Foilsithe / Cruthaithe 2011
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  7. 7
    A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

    A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2 de réir Erich Roessler, Alexandre N. Ermilov, Dorothy K. Grange, Aiqin Wang, Marina Grachtchouk, Andrzej A. Dlugosz, Maximilian Muenke

    Foilsithe / Cruthaithe 2005
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  8. 8
    Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

    Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly de réir Erich Roessler, Elena Belloni, Karin Gaudenz, Fernando Regla Vargas, Stephen W. Scherer, L.‐C. Tsui, Maximilian Muenke

    Foilsithe / Cruthaithe 1997
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  9. 9
    Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

    Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans de réir Erich Roessler, Yong Ma, Maia V. Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A. Beachy, Maximilian Muenke

    Foilsithe / Cruthaithe 2009
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  10. 10
    Screening of human <i>LPHN3</i> for variants with a potential impact on ADHD susceptibility

    Screening of human <i>LPHN3</i> for variants with a potential impact on ADHD susceptibility de réir Sabina Domené, Horia Stanescu, Deeann Wallis, Bradford Tinloy, Daniel Pineda, Robert Kleta, Mauricio Arcos‐Burgos, Erich Roessler, Maximilian Muenke

    Foilsithe / Cruthaithe 2010
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  11. 11
    Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH

    Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH de réir Daniel Pineda‐Alvarez, Erich Roessler, Ping Hu, Kshitij Srivastava, Benjamin D. Solomon, C. Evan Siple, Chen‐Ming Fan, Maximilian Muenke

    Foilsithe / Cruthaithe 2011
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  12. 12
    A lymphokine, provisionally designated interleukin T and produced by a human adult T-cell leukemia line, stimulates T-cell proliferation and the induction of lymphokine-activated killer cells.

    A lymphokine, provisionally designated interleukin T and produced by a human adult T-cell leukemia line, stimulates T-cell proliferation and the induction of lymphokine-activated k... de réir J. D. Burton, Richard N. Bamford, Christian Peters, Angus J. Grant, Gloria Kurys, C K Goldman, Jennifer Brennan, Erich Roessler, Thomas A. Waldmann

    Foilsithe / Cruthaithe 1994
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  13. 13
    The interleukin (IL) 2 receptor beta chain is shared by IL-2 and a cytokine, provisionally designated IL-T, that stimulates T-cell proliferation and the induction of lymphokine-activated killer cells.

    The interleukin (IL) 2 receptor beta chain is shared by IL-2 and a cytokine, provisionally designated IL-T, that stimulates T-cell proliferation and the induction of lymphokine-act... de réir Richard N. Bamford, Angus J. Grant, J. D. Burton, Christian Peters, Gloria Kurys, C K Goldman, Jennifer Brennan, Erich Roessler, Thomas A. Waldmann

    Foilsithe / Cruthaithe 1994
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  14. 14
    Comparison of mutation findings in <i>ZIC2</i> between microform and classical holoprosencephaly in a Brazilian cohort

    Comparison of mutation findings in <i>ZIC2</i> between microform and classical holoprosencephaly in a Brazilian cohort de réir Lucilene Arilho Ribeiro, Erich Roessler, Ping Hu, Daniel Pineda‐Alvarez, Nan Zhou, MaryPat Jones, Settara C. Chandrasekharappa, Antônio Richieri‐Costa, Maximilian Muenke

    Foilsithe / Cruthaithe 2012
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  15. 15
    The interleukin-2 receptor: a target for monoclonal antibody treatment of human T-cell lymphotrophic virus I-induced adult T-cell leukemia

    The interleukin-2 receptor: a target for monoclonal antibody treatment of human T-cell lymphotrophic virus I-induced adult T-cell leukemia de réir Waldmann Ta, JD White, C K Goldman, Lois E. Top, Andrew Grant, Richard N. Bamford, Erich Roessler, I Horák, Sara Zaknoen, Claude Kasten-Sportès

    Foilsithe / Cruthaithe 1993
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  16. 16
    Loss-of-function mutations in the human <i>GLI2</i> gene are associated with pituitary anomalies and holoprosencephaly-like features

    Loss-of-function mutations in the human <i>GLI2</i> gene are associated with pituitary anomalies and holoprosencephaly-like features de réir Erich Roessler, Yangzhu Du, José L. Mullor, Esther Casas, William Allen, Gabriele Gillessen‐Kaesbach, Elizabeth Roeder, Jeffrey E. Ming, Ariel Ruiz i Altaba, Maximilian Muenke

    Foilsithe / Cruthaithe 2003
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  17. 17
    Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

    Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly de réir Jeffrey E. Ming, Michelle E. Kaupas, Erich Roessler, Han G. Brunner, Mahin Golabi, Mustafa Tekin, Robert F. Stratton, Eva Sujansky, Sherri J. Bale, Maximilian Muenke

    Foilsithe / Cruthaithe 2002
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  18. 18
    Analysis of genotype–phenotype correlations in human holoprosencephaly

    Analysis of genotype–phenotype correlations in human holoprosencephaly de réir Benjamin D. Solomon, Sandra Mercier, Jorge I. Vélez, Daniel Pineda‐Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Véronique David, Sylvie Odent, Erich Roessler, Maximilian Muenke

    Foilsithe / Cruthaithe 2010
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  19. 19
    Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

    Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein de réir Yongsu Jeong, Federico Coluccio Leskow, Kênia Balbi El-Jaick, Erich Roessler, Maximilian Muenke, Anastasia K. Yocum, Christèle Dubourg, Xue Li, Xin Geng, Guillermo Oliver, Douglas J. Epstein

    Foilsithe / Cruthaithe 2008
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  20. 20
    Functional analysis of mutations in TGIF associated with holoprosencephaly

    Functional analysis of mutations in TGIF associated with holoprosencephaly de réir Kênia Balbi El-Jaick, Shannon Powers, Laurent Bartholin, Kenneth R. Myers, Jin S. Hahn, Iêda M. Orioli, Maia V. Ouspenskaia, Felicitas Lacbawan, Erich Roessler, David Wotton, Maximilian Muenke

    Foilsithe / Cruthaithe 2006
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