Resultados de procura - Matthew A. Deardorff

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  1. 1
    Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen?

    Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen? por Jennifer M. Kalish, Matthew A. Deardorff

    Publicado 2016
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  2. 2
    Regulation of Glycogen Synthase Kinase 3β and Downstream Wnt Signaling by Axin

    Regulation of Glycogen Synthase Kinase 3β and Downstream Wnt Signaling by Axin por Chester M. Hedgepeth, Matthew A. Deardorff, Kathleen Rankin, Peter S. Klein

    Publicado 1999
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  3. 3
    Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit

    Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit por Tara Wenger, Jeffrey S. Gerdes, Katherine S. Taub, Daniel T. Swarr, Matthew A. Deardorff, Nicholas S. Abend

    Publicado 2014
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  4. 4
    Regulation of eye development by frizzled signaling in <i>Xenopus</i>

    Regulation of eye development by frizzled signaling in <i>Xenopus</i> por Jennifer T. Rasmussen, Matthew A. Deardorff, Change Tan, Mahendra S. Rao, Peter S. Klein, Monica L. Vetter

    Publicado 2001
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  5. 5
    Neutral mitochondrial heteroplasmy and the influence of aging

    Neutral mitochondrial heteroplasmy and the influence of aging por Neal Sondheimer, Catherine Glatz, Jack E. Tirone, Matthew A. Deardorff, Abba Μ. Krieger, Hákon Hákonarson

    Publicado 2011
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  6. 6
    Compromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum Disorders

    Compromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum Disorders por Christophe Decroos, Christine M. Bowman, J. Moser, Karen E. Christianson, Matthew A. Deardorff, D.W. Christianson

    Publicado 2014
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  7. 7
    Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis

    Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis por Ute Rothbächer, Micheline N. Laurent, Matthew A. Deardorff, Peter S. Klein, Ken W.Y. Cho, Scott E. Fraser

    Publicado 2000
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  8. 8
    Biochemical and Structural Characterization of HDAC8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders

    Biochemical and Structural Characterization of HDAC8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders por Christophe Decroos, Nicolas Christianson, Laura E. Gullett, Christine M. Bowman, Karen E. Christianson, Matthew A. Deardorff, D.W. Christianson

    Publicado 2015
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  9. 9
    Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

    Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey por Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pié, Victoria Mok Siu, Feliciano J. Ramos, Ian D. Krantz, Matthew A. Deardorff

    Publicado 2010
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  10. 10
    Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

    Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies por Dinah Clark, Ilana Sherer, Matthew A. Deardorff, Janice L. B. Byrne, Kathleen M. Loomes, Małgorzata J.M. Nowaczyk, Laird G. Jackson, Ian D. Krantz

    Publicado 2012
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  11. 11
    Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

    Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis por Kathryn C. Chatfield, Samantha A. Schrier, Jennifer Li, Dinah Clark, Maninder Kaur, Antonie D. Kline, Matthew A. Deardorff, Laird S. Jackson, Elizabeth Goldmuntz, Ian D. Krantz

    Publicado 2012
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  12. 12
    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis por Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann, Līvija Medne, Linda M. Ernst, Elaine H. Zackai, Matthew A. Deardorff, Ian D. Krantz, Hákon Hákonarson, Nancy B. Spinner

    Publicado 2010
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  13. 13
    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum

    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum por Qiaoli Li, Jill L. Brodsky, Laura K. Conlin, Bruce Pawel, Andrew C. Glatz, Rachel I. Gafni, Leon J. Schurgers, Jouni Uitto, Hákon Hákonarson, Matthew A. Deardorff, Michael A. Levine

    Publicado 2013
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  14. 14
    Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

    Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature por Samantha A. Schrier, Ilana Sherer, Matthew A. Deardorff, Dinah Clark, Lynn Audette, Lynette A. Gillis, Antonie D. Kline, Linda M. Ernst, Kathleen M. Loomes, Ian D. Krantz, Laird G. Jackson

    Publicado 2011
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  15. 15
    16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome

    16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome por Aiko Iwata‐Otsubo, Alyssa L. Rippert, Jorune Balciuniene, Sarah K. Fiordaliso, Robert Chen, Preetha Markose, Cara Skraban, Christopher Gray, Elaine H. Zackai, Holly Dubbs, Matthew A. Deardorff, Laura K. Conlin, Kosuke Izumi

    Publicado 2025
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  16. 16
    Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

    Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells por Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A. Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B. Spinner, Hugo Vega, Laird G. Jackson, Katsuhiko Shirahige, Ian D. Krantz

    Publicado 2009
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  17. 17
    Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

    Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome por Jennifer M. Kalish, Kara E. Boodhansingh, Tricia R. Bhatti, Arupa Ganguly, Laura K. Conlin, Susan Becker, Stephanie Givler, Lindsey Mighion, Andrew Palladino, N. Scott Adzick, Diva D. De León, Charles A. Stanley, Matthew A. Deardorff

    Publicado 2015
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  18. 18
    Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

    Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management por Kelly A. Duffy, Christopher M. Cielo︎, Jennifer L. Cohen, Christina X Gonzalez-Gandolfi, Jessica R. Griff, Evan R. Hathaway, Jonida Kupa, Jesse A. Taylor, Kathleen H. Wang, Arupa Ganguly, Matthew A. Deardorff, Jennifer M. Kalish

    Publicado 2019
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  19. 19
    The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

    The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases por Samantha A. Schrier, Joann Bodurtha, Barbara K. Burton, Albert E. Chudley, Mary Anne D. Chiong, M D'Avanzo, Sally Ann Lynch, Antonio Musio, Dmitriy M. Nyazov, Pedro A. Sanchez‐Lara, Stavit A. Shalev, Matthew A. Deardorff

    Publicado 2012
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  20. 20
    Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>

    Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i> por Rebecca C. Ahrens‐Nicklas, George K. E. Umanah, Neal Sondheimer, Matthew A. Deardorff, Alisha Wilkens, Laura K. Conlin, Avni Santani, Addie I. Nesbitt, Jane Juulsola, Erica Ma, Ted M. Dawson, Valina L. Dawson, Eric D. Marsh

    Publicado 2017
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