檢索結果 - Susan Price

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  1. 1
    Maternal uniparental disomy 7 in Silver-Russell syndrome.

    Maternal uniparental disomy 7 in Silver-Russell syndrome. 由 Michael A. Preece, Susan Price, V Davies, Louise E. Clough, Philip Stanier, Richard C. Trembath, Gudrun E. Moore

    出版 1997
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  2. 2
    RELA haploinsufficiency in CD4 lymphoproliferative disease with autoimmune cytopenias

    RELA haploinsufficiency in CD4 lymphoproliferative disease with autoimmune cytopenias 由 William A. Comrie, Aiman Faruqi, Susan Price, Yu Zhang, V. Koneti Rao, Helen C. Su, Michael J. Lenardo

    出版 2018
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    Carta
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  3. 3
    JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities

    JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities 由 Katherine R. Calvo, Susan Price, Raul C. Braylan, João Bosco Oliveira, Michael J. Lenardo, Thomas A. Fleisher, V. Koneti Rao

    出版 2015
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    Revisão
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  4. 4
    Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins

    Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins 由 Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka C Offiah, John Barton, Susan Price, John W. R. Schwabe, Krishna Chatterjee

    出版 2017
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  5. 5
    Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

    Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome 由 Kennichi Dowdell, Julie E. Niemela, Susan Price, Joie Davis, Ronald L. Hornung, João Bosco Oliveira, Jennifer M. Puck, Elaine S. Jaffe, Stefania Pittaluga, Jeffrey I. Cohen, Thomas A. Fleisher, V. Koneti Rao

    出版 2010
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  6. 6
    Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome

    Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome 由 Iusta Caminha, Thomas A. Fleisher, Ronald L. Hornung, Janet K. Dale, Julie E. Niemela, Susan Price, Joie Davis, Katie Perkins, Kennichi Dowdell, Margaret R. Brown, V. Koneti Rao, João Bosco Oliveira

    出版 2010
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  7. 7
    Spectrum of PEX1 and PEX6 variants in Heimler syndrome

    Spectrum of PEX1 and PEX6 variants in Heimler syndrome 由 Claire E. L. Smith, James A. Poulter, Alex V. Levin, Jenina Capasso, Susan Price, Tamar Ben‐Yosef, Reuven Sharony, William G. Newman, Richard F. Shore, Steven J. Brookes, Alan J. Mighell, Chris F. Inglehearn

    出版 2016
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  8. 8
    Molecular and clinical delineation of the 17q22 microdeletion phenotype

    Molecular and clinical delineation of the 17q22 microdeletion phenotype 由 Tobias Laurell, Johanna Lundin, Britt-Marie Anderlid, Jerome L. Gorski, Giedre Grigelioniené, Samantha J.L. Knight, Ana Cristina Victorino Krepischi, Agneta Nordenskjöld, Susan Price, Carla Rosenberg, Peter D. Turnpenny, Angela Maria Vianna‐Morgante, Ann Nordgren

    出版 2013
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  9. 9
    Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS)

    Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS) 由 V. Koneti Rao, Susan Price, Katie Perkins, Patricia Aldridge, Jean Tretler, Joie Davis, Janet K. Dale, Fred A. Gill, Kip R. Hartman, Linda C. Stork, David J. Gnarra, Lakshmanan Krishnamurti, Peter E. Newburger, Jennifer M. Puck, Thomas A. Fleisher

    出版 2009
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  10. 10
    Fas/CD95 prevents autoimmunity independently of lipid raft localization and efficient apoptosis induction

    Fas/CD95 prevents autoimmunity independently of lipid raft localization and efficient apoptosis induction 由 Anthony Cruz, Madhu Ramaswamy, Claudia Ouyang, Christopher A. Klebanoff, Prabuddha Sengupta, Tori N. Yamamoto, Françoise Meylan, Stacy K. Thomas, Nathan Richoz, Robert Eil, Susan Price, Rafael Casellas, V. Koneti Rao, Jennifer Lippincott‐Schwartz, Nicholas P. Restifo, Richard M. Siegel

    出版 2016
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  11. 11
    FAS Inactivation Releases Unconventional Germinal Center B Cells that Escape Antigen Control and Drive IgE and Autoantibody Production

    FAS Inactivation Releases Unconventional Germinal Center B Cells that Escape Antigen Control and Drive IgE and Autoantibody Production 由 Danyal Butt, Tyani D. Chan, Katherine Bourne, Jana R. Hermes, Akira Nguyen, Aaron L. Statham, Lorraine A. O’Reilly, Andreas Strasser, Susan Price, Peter Schofield, Daniel Christ, Antony Basten, S. Cindy, Stuart G. Tangye, Tri Giang Phan, V. Koneti Rao, Robert Brink

    出版 2015
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  12. 12
    Heterozygous splice mutation in <i>PIK3R1</i> causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

    Heterozygous splice mutation in <i>PIK3R1</i> causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K 由 C. Lucas, Yu Zhang, Anthony Venida, Ying Wang, Jason D. Hughes, Joshua McElwee, Morgan Butrick, Helen Matthews, Susan Price, Matthew Biancalana, Xiaochuan Wang, Michael Richards, Tamara C. Pozos, Işıl Barlan, Ahmet Özen, V. Koneti Rao, Helen C. Su, Michael J. Lenardo

    出版 2014
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  13. 13
    Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

    Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations 由 Susan Price, Pamela A. Shaw, Amy E. Seitz, Gyan Joshi, Joie Davis, Julie E. Niemela, Katie Perkins, Ronald L. Hornung, Les Folio, Philip S. Rosenberg, Jennifer M. Puck, Amy P. Hsu, Bernice Lo, Stefania Pittaluga, Elaine S. Jaffe, Thomas A. Fleisher, V. Koneti Rao, Michael J. Lenardo

    出版 2014
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  14. 14
    Elevated interleukin-10: A new cause of dyslipidemia leading to severe HDL deficiency

    Elevated interleukin-10: A new cause of dyslipidemia leading to severe HDL deficiency 由 Andreas Moraitis, Lita A. Freeman, Robert D. Shamburek, Robert Wesley, Wyndham H. Wilson, Clíona Grant, Susan Price, Stephen J. Demosky, Seth G. Thacker, Abdalrahman Zarzour, Ronald L. Hornung, Frank Pucino, György Csákó, Cheryl Yarboro, Iain B. McInnes, Takashi Kuroiwa, Dimitrios T. Boumpas, V. Koneti Rao, Gabor G. Illei, Alan T. Remaley

    出版 2014
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  15. 15
    TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

    TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci 由 Erica E. Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, David L. Keefe, Lacey Plummer, Kamal Khan, Błażej Męczekalski, Karen E. Heath, Vanesa López‐González, María Juliana Ballesta‐Martínez, G Margabanthu, Susan Price, James Greening, Raja Brauner, Irene Valenzuela, Ivon Cuscó, Paula Fernández‐Álvarez, Margaret E. Wierman, Taibo Li, Kasper Lage, Priscila Sales Barroso, Yee-Ming Chan, William F. Crowley, Nicholas Katsanis

    出版 2020
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  16. 16
    Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

    Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy 由 Bernice Lo, Kejian Zhang, Wei Lü, Lixin Zheng, Qian Zhang, Chrysi Kanellopoulou, Yu Zhang, Zhiduo Liu, Jill M. Fritz, Rebecca Marsh, Ammar Husami, Diane Kissell, Shannon Nortman, Vijaya Chaturvedi, Hilary Haines, Lisa R. Young, Jun Mo, Alexandra H. Filipovich, Jack Bleesing, Peter Mustillo, Michael C. Stephens, Cesar M. Rueda, Claire Chougnet, Kasper Hoebe, Joshua McElwee, Jason D. Hughes, Elif Karakoç-Aydıner, Helen Matthews, Susan Price, Helen C. Su, V. Koneti Rao, Michael J. Lenardo, Michael B. Jordan

    出版 2015
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  17. 17
    Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i>

    Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i> 由 Hye Sun Kuehn, Weiming Ouyang, Bernice Lo, Elissa K. Deenick, Julie E. Niemela, Danielle T. Avery, Jean-Nicolas Schickel, Dat Q. Tran, Jennifer Stoddard, Yu Zhang, David M. Frucht, Bogdan Dumitriu, Phillip Scheinberg, Les Folio, Cathleen Frein, Susan Price, Christopher Koh, Theo Heller, Christine M. Seroogy, Anna Huttenlocher, V. Koneti Rao, Helen C. Su, David E. Kleiner, Luigi D. Notarangelo, Yajesh Rampertaap, Kenneth N. Olivier, Joshua McElwee, Jason D. Hughes, Stefania Pittaluga, João Bosco Oliveira, Eric Meffre, Thomas A. Fleisher, Steven M. Holland, Michael J. Lenardo, Stuart G. Tangye, Gülbû Uzel

    出版 2014
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  18. 18
    WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

    WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome 由 Janson J. White, Juliana F. Mazzeu, Zeynep Coban‐Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W.M. van Bon, Alper Gezdirici, Elif Yılmaz Güleç, Francis Ramond, Renaud Touraine, Julien Thévenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover‐Fong, Ceren Damla Durmaz, Halil Gürhan Karabulut, Ebru Marzioğlu Özdemir, Atilla Çayır, Mehmet Buğrahan Düz, Mehmet Seven, Susan Price, Bárbara Merfort Ferreira, Angela Maria Vianna‐Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N. Jhangiani, Richard A. Gibbs, Han G. Brunner, V. Reid Sutton, James R. Lupski, Claudia M.B. Carvalho

    出版 2017
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  19. 19
    HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

    HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease 由 Sarah A. Cook, William A. Comrie, M. Cecilia Poli, Morgan Similuk, Andrew J. Oler, Aiman Faruqi, Douglas B. Kuhns, Sheng Yang, Alexander Vargas‐Hernández, Alexandre F. Carisey, Benjamin Fournier, David E. Anderson, Susan Price, Margery Smelkinson, Wadih Abou Chahla, Lisa R. Forbes, Emily M. Mace, Tram N. Cao, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Geoff D.E. Cuvelier, Moza Al Hassani, Nawal Al Kaabi, Zain Al Yafei, Soma Jyonouchi, Nikita Raje, Jason W. Caldwell, Yanping Huang, Janis K. Burkhardt, Sylvain Latour, Baoyu Chen, Gehad ElGhazali, V. Koneti Rao, Iván K. Chinn, Michael J. Lenardo

    出版 2020
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  20. 20
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum 由 Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai

    出版 2011
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