Søgeresultater - Roger L. Ladda
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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease af Suhrad G. Banugaria, Sean N. Prater, Yiu-Ki Ng, Joyce A. Kobori, Richard S. Finkel, Roger L. Ladda, Yuan-Tsong Chen, Amy S. Rosenberg, Priya S. Kishnani
Udgivet 2011Artigo -
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Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria af Mary O’Driscoll, Sarah B. Daly, Jill Urquhart, Graeme Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Nicole I. Wolf, Roger L. Ladda, Susan L. Sell, Stefano D’Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow
Udgivet 2010Artigo -
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Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region af Eugen‐Matthias Strehle, Linbo Yu, Jill A. Rosenfeld, Sandra Donkervoort, Yulin Zhou, Tianjian Chen, José E. Martínez, Yao‐Shan Fan, Deborah Barbouth, Hongbo Zhu, Alicia Vaglio, Rosemarie Smith, Cathy A. Stevens, Cynthia J. Curry, Roger L. Ladda, Zheng Fan, Joyce E. Fox, Judith A. Martin, Hoda Abdel‐Hamid, Elizabeth McCracken, Barbara McGillivray, Diane Masser‐Frye, Taosheng Huang
Udgivet 2012Artigo -
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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders af Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers
Udgivet 2018Artigo -
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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes af Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, M. Falco, Christina Fels, Marco Fichera, Jesper Graakjær, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene J. Huggins, Roger L. Ladda, Chumei Li, John B. Moeschler, Małgorzata J.M. Nowaczyk, Jillian R. Ozmore, S Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan L. Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark A. Tarnopolsky, Raymond C. Tervo, Anne Chun‐Hui Tsai, Megan Tucker, Stephanie E. Vallee, Ferrin C. Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer, William B. Dobyns
Udgivet 2013Artigo -
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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies af Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Débora Romeo Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, María J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger L. Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne H. Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol Saunders, Rhonda E. Schnur, Matěj Škorvánek, Susan L. Sell, Anne Slavotinek, Bonnie Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, K. Nicole Weaver
Udgivet 2023Artigo -
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Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features af Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A. Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth N. Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger L. Ladda, Susan L. Sell, Judith A. Martin, S. Noyce Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan‐Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye‐Duriez, Bénédicte Héron‐Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloès, Bertrand Isidor, Cédric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif, Lisa G. Shaffer
Udgivet 2012Artigo -
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Redefining the Etiologic Landscape of Cerebellar Malformations af Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda Mirzaa, James T. Bennett, Alexander Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Parthiv Haldipur, Chi Vicky Cheng, Sarah Collins, Kaylee Park, Jordan Zeiger, Lynne M. Overmann, Fowzan S. Alkuraya, Leslie G. Biesecker, Stephen R. Braddock, Sara Cathey, Megan T. Cho, Brian Hon‐Yin Chung, David B. Everman, Yuri A. Zárate, Julie R. Jones, Charles E. Schwartz, Amy Goldstein, Robert J. Hopkin, Ian D. Krantz, Roger L. Ladda, Kathleen A. Leppig, Barbara McGillivray, Susan L. Sell, Katherine Wusik, Joseph G. Gleeson, Deborah A. Nickerson, Michael J. Bamshad, Dianne Gerrelli, Steven Lisgo, Georg Seelig, Gisele E. Ishak, A. James Barkovich, Cynthia J. Curry, Ian Glass, Kathleen J. Millen, Dan Doherty, William B. Dobyns
Udgivet 2019Artigo -
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Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus af Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans
Udgivet 2013Artigo -
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Assessment of multiple intrauterine gestations from ovarian stimulation (AMIGOS) trial: baseline characteristics af Michael P. Diamond, Richard S. Legro, Christos Coutifaris, Ruben Alvero, Randal D. Robinson, Peter Casson, Gregory M. Christman, Joel W. Ager, Hao Huang, Karl R. Hansen, Valerie L. Baker, Rebecca Usadi, Aimee Seungdamrong, G. Wright Bates, Robert M. Rosen, Daniel Haisonleder, Stephen A. Krawetz, Kurt T. Barnhart, J.C. Trussell, Yufeng Jin, Nanette Santoro, Esther Eisenberg, Heping Zhang, C. Bartlebaugh, William C. Dodson, Stephanie J. Estes, Carol L. Gnatuk, Roger L. Ladda, J. Ober, C. Easton, Ana Teresa Echevarría Hernández, M. Leija, David W. Pierce, Robert G. Brzyski, Awoniyi O. Awonuga, Lídia Cedó, Allison R Cline, Kane E. Collins, Elizabeth E. Puscheck, Monika Singh, M. Yoscovits, K. Lecks, Lucia De Martino, R. Marunich, Alison B. Comfort, M. Crow, Andrea G. Hohmann, S. Mallette, Y.R. Smith, John F. Randolph, Senait Fisseha, M. Ringbloom, Jie Tang, Shawn T. Mason, Norma María, B. Laylor, L. Martinez, Amy Solnica, A. Wojtczuk, M. Rhea, K. Turner, LaTasha B. Craig, Christina Zornes, Miriam Rodríguez Rodríguez, Travis Hunt, Thomas A. Remble, Gloria Cheng, Lauri Green, Nikolaus Lenhart, D. Del Basso, Michael B. Brennan, Hongying Kuang, Yonggang Li, Pasquale Patrizio, Lynn Y. Sakai, Chunhua Song, Hugh S. Taylor, Tracey Thomas, Q. Yan, M. Zhang, C. Lamar, LGD Paolo, David S. Guzick, A. Herring, J. Bruce Redmond, Mark Thomas, Paul J. Turek, Jean Wactawski‐Wende, Robert W. Rebar, Patrick Cato, Vanja Dukić, Vivian Lewis, Peter N. Schlegel, Frank R. Witter
Udgivet 2015Artigo -
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Major depression, antidepressant use, and male and female fertility af Emily Evans-Hoeker, Esther Eisenberg, Michael P. Diamond, Richard S. Legro, Ruben Alvero, Christos Coutifaris, Peter R. Casson, Gregory M. Christman, Karl R. Hansen, Heping Zhang, Nanette Santoro, Anne Z. Steiner, C. Bartlebaugh, William C. Dodson, Stephanie J. Estes, Carol L. Gnatuk, Roger L. Ladda, J. Ober, Robert G. Brzyski, C. Easton, Ana Teresa Echevarría Hernández, M. Leija, David W. Pierce, Randal Robinson, Joel W. Ager, Awoniyi O. Awonuga, Lídia Cedó, Allison R Cline, Kristina J. Collins, S. Krawetz, Elizabeth E. Puscheck, Monika Singh, M. Yoscovits, K. Lecks, Lucia De Martino, R. Marunich, Alison B. Comfort, M. Crow, Andrea G. Hohmann, S. Mallette, Y.R. Smith, John F. Randolph, Senait Fisseha, Dana A. Ohl, M. Ringbloom, J. Tang, William M. Bates, S E Mason, LaTasha B. Craig, Christina Zornes, Michael Rodriguez, Travis Hunt, N. DiMaria, Rebecca Usadi, Scott Lucidi, M. Rhea, Vicki M. Baker, Katy Turner, Michael B. Brennan, D. DelBasso, Hao Huang, Yufeng Jin, Yannan Li, Hongying Kuang, Robert Makuch, Pasquale Patrizio, Lynn Y. Sakai, Lawrence David Scahill, Chunhua Song, H Taylor, Tinku Thomas, S. Tsang, Q. Yan, M. Zhang, Daniel J. Haisenleder, J.C. Trussell, B. Laylor, L. Martinez, Amy Solnica, A. Wojtczuk, Aimee Seungdamrong, M.P. Rosen, C. Lamar, Louis V. DePaolo, David S. Guzick, A. Herring, J. Bruce Redmond, Melanie Thomas, Paul J. Turek, Jean Wactawski‐Wende, Robert W. Rebar, Patrick Cato, Vanja Dukić, Vivian Lewis, Peter N. Schlegel, Frank R. Witter
Udgivet 2018Artigo
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Biology
Genetics
Gene
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Breast cancer
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Craniofacial
Gynecology
Haploinsufficiency
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Allelic heterogeneity
Aneuploidy
Angelman syndrome
Antibody titer
Antigen
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Aromatase
Biochemistry