Resultados da pesquisa - Deborah L. Stabley

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  1. 1
    Male‐to‐male transmission of Costello syndrome: G12S <i>HRAS</i> germline mutation inherited from a father with somatic mosaicism

    Male‐to‐male transmission of Costello syndrome: G12S <i>HRAS</i> germline mutation inherited from a father with somatic mosaicism Por Katia Sol‐Church, Deborah L. Stabley, Laurie Demmer, Abigail Agbulos, Angela E. Lin, Leslie Smoot, Linda K. Nicholson, Karen W. Gripp

    Publicado em 2009
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  2. 2
    Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp

    Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp Por Débora Romeo Bertola, Michelle Buscarilli, Deborah L. Stabley, Laura Baker, Daniel Doyle, Dennis W. Bartholomew, Katia Sol‐Church, Karen W. Gripp

    Publicado em 2017
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  3. 3
    Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i>

    Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i> Por Karen W. Gripp, Cynthia J. Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica X. Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L. Stabley, Katia Sol‐Church

    Publicado em 2014
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  4. 4
    Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

    Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis Por Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, Katia Sol‐Church

    Publicado em 2013
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  5. 5
    A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair

    A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair Por Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, Laura Baker, Jessica Tusi, Nina Powell‐Hamilton, Deborah L. Stabley, Katia Sol‐Church, Andrew E. Timms, William B. Dobyns

    Publicado em 2016
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  6. 6
    A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra‐cranial solid tumors: A Children's Oncology Group Phase I Consortium report

    A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra‐cranial solid tumors: A Children's Oncology Group Phase I Consortium... Por E. Anders Kolb, Valerie B. Sampson, Deborah L. Stabley, Alexa E. Walter, Katia Sol‐Church, Timothy P. Cripe, Pooja Hingorani, Charlotte H. Ahern, Brenda J. Weigel, James A. Zwiebel, Susan M. Blaney

    Publicado em 2015
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  7. 7
    Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome

    Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome Por Karen W. Gripp, Katherine Robbins, Nara Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Mäkitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol‐Church

    Publicado em 2014
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  8. 8
    <i>SMN1</i> and <i>SMN2</i> copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

    <i>SMN1</i> and <i>SMN2</i> copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR Por Deborah L. Stabley, Ashlee W. Harris, Jennifer Holbrook, Nicholas J. Chubbs, Kevin W. Lozo, Thomas O. Crawford, Kathryn J. Swoboda, Vicky L. Funanage, Wenlan Wang, William G. Mackenzie, Mena Scavina, Katia Sol‐Church, Matthew E.R. Butchbach

    Publicado em 2015
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  9. 9
    Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

    Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C Por Karen W. Gripp, Elizabeth Hopkins, Katia Sol‐Church, Deborah L. Stabley, Marni E. Axelrad, Daniel Doyle, William B. Dobyns, Cindy Hudson, John P. Johnson, Romano Tenconi, Gail E. Graham, Ana Berta Sousa, Raoul Heller, Maria Piccione, Giovanni Corsello, Gail E. Herman, Marco Tartaglia, Angela E. Lin

    Publicado em 2011
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  10. 10
    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome Por Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui, Margaret P Adam, Michele G. Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine Akkari, Katherine Robbins, Karen W. Gripp, Wagner Antonio da Rosa Baratela, Michael B. Bober, Angela L. Duker, Dan Doherty, Jennifer C. Dempsey, Daniel G. Miller, Martin Kircher, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Katia Sol‐Church

    Publicado em 2018
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  11. 11
    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies Por Marcello Niceta, Emilia Stellacci, Karen W. Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah L. Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria Teresa Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leoni, Takaya Nakane, Kim M. Keppler‐Noreuil, Stephen R. Braddock, Gabriele Gillessen‐Kaesbach, Antonio Palleschi, Philippe M. Campeau, Brendan Lee, Célio Pouponnot, Lorenzo Stella, Gianfranco Bocchinfuso, Nicholas Katsanis, Katia Sol‐Church, Marco Tartaglia

    Publicado em 2015
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