Canlyniadau Chwilio - 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? gan Jennifer M. Kalish, Matthew A. Deardorff

    Cyhoeddwyd 2016
    Cael y testun llawn
    Carta
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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 gan Chester M. Hedgepeth, Matthew A. Deardorff, Kathleen Rankin, Peter S. Klein

    Cyhoeddwyd 1999
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    Artigo
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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 gan Tara Wenger, Jeffrey S. Gerdes, Katherine S. Taub, Daniel T. Swarr, Matthew A. Deardorff, Nicholas S. Abend

    Cyhoeddwyd 2014
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    Artigo
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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> gan Jennifer T. Rasmussen, Matthew A. Deardorff, Change Tan, Mahendra S. Rao, Peter S. Klein, Monica L. Vetter

    Cyhoeddwyd 2001
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    Artigo
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  5. 5
    Neutral mitochondrial heteroplasmy and the influence of aging

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

    Cyhoeddwyd 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 gan Christophe Decroos, Christine M. Bowman, J. Moser, Karen E. Christianson, Matthew A. Deardorff, D.W. Christianson

    Cyhoeddwyd 2014
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    Artigo
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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 gan Ute Rothbächer, Micheline N. Laurent, Matthew A. Deardorff, Peter S. Klein, Ken W.Y. Cho, Scott E. Fraser

    Cyhoeddwyd 2000
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    Artigo
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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 gan Christophe Decroos, Nicolas Christianson, Laura E. Gullett, Christine M. Bowman, Karen E. Christianson, Matthew A. Deardorff, D.W. Christianson

    Cyhoeddwyd 2015
    Cael y testun llawn
    Artigo
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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 gan Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pié, Victoria Mok Siu, Feliciano J. Ramos, Ian D. Krantz, Matthew A. Deardorff

    Cyhoeddwyd 2010
    Cael y testun llawn
    Artigo
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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 gan Dinah Clark, Ilana Sherer, Matthew A. Deardorff, Janice L. B. Byrne, Kathleen M. Loomes, Małgorzata J.M. Nowaczyk, Laird G. Jackson, Ian D. Krantz

    Cyhoeddwyd 2012
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    Revisão
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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 gan 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

    Cyhoeddwyd 2012
    Cael y testun llawn
    Artigo
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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 gan 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

    Cyhoeddwyd 2010
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    Artigo
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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 gan 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

    Cyhoeddwyd 2013
    Cael y testun llawn
    Artigo
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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 gan 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

    Cyhoeddwyd 2011
    Cael y testun llawn
    Revisão
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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 gan 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

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

    Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells gan 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

    Cyhoeddwyd 2009
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    Artigo
    Ychwanegu at ffefrynnau
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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 gan 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

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

    Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management gan 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

    Cyhoeddwyd 2019
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    Artigo
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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 gan 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

    Cyhoeddwyd 2012
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    Artigo
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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> gan 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

    Cyhoeddwyd 2017
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    Artigo
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