Search Results - Xilma R. Ortiz‐González

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  1. 1
    Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?

    Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders? by Xilma R. Ortiz‐González

    Published 2021
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  2. 2
    Neural Differentiation and Incorporation of Bone Marrow-Derived Multipotent Adult Progenitor Cells after Single Cell Transplantation into Blastocyst Stage Mouse Embryos

    Neural Differentiation and Incorporation of Bone Marrow-Derived Multipotent Adult Progenitor Cells after Single Cell Transplantation into Blastocyst Stage Mouse Embryos by C. Dirk Keene, Xilma R. Ortiz‐González, Yuehua Jiang, David A. Largaespada, Catherine M. Verfaillie, Walter C. Low

    Published 2003
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  3. 3
    βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

    βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy by Chih-Chuan Wang, Xilma R. Ortiz‐González, Sabrina W. Yum, Sara M. Gill, Amy White, Erin Kelter, Laurie H. Seaver, Sansan Lee, Graham B. Wiley, Patrick M. Gaffney, Klaas J. Wierenga, Matthew N. Rasband

    Published 2018
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  4. 4
    Homozygous boricua <i>TBCK</i> mutation causes neurodegeneration and aberrant autophagy

    Homozygous boricua <i>TBCK</i> mutation causes neurodegeneration and aberrant autophagy by Xilma R. Ortiz‐González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A. Reghan Foley, Diana Bharucha‐Goebel, Sudha Kilaru Kessler, Sabrina W. Yum, Peter B. Crino, Miao He, Douglas C. Wallace, Carsten G. Bönnemann

    Published 2017
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  5. 5
    Two unique <i>TUBB3</i> mutations cause both CFEOM3 and malformations of cortical development

    Two unique <i>TUBB3</i> mutations cause both CFEOM3 and malformations of cortical development by Mary C. Whitman, Caroline Andrews, Wai‐Man Chan, Max A. Tischfield, Steven F. Stasheff, Francesco Brancati, Xilma R. Ortiz‐González, Sara Nuovo, Francesco Garaci, Sarah MacKinnon, David G. Hunter, P. Ellen Grant, Elizabeth C. Engle

    Published 2015
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  6. 6
    RETRACTED ARTICLE: Pluripotency of mesenchymal stem cells derived from adult marrow

    RETRACTED ARTICLE: Pluripotency of mesenchymal stem cells derived from adult marrow by Yuehua Jiang, Balkrishna Jahagirdar, R. Lee Reinhardt, Robert E. Schwartz, C. Dirk Keene, Xilma R. Ortiz‐González, Morayma Reyes, Todd Lenvik, Troy C. Lund, Mark Blackstad, Jingbo Du, Sara Aldrich, Aaron Lisberg, Walter C. Low, David A. Largaespada, Catherine M. Verfaillie

    Published 2002
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  7. 7
    Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A

    Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A by Fabian L. Cardenas‐Diaz, Catherine Osorio-Quintero, Maria Alejandra Diaz‐Miranda, Siddharth Kishore, Karla F. Leavens, Chintan Jobaliya, Diana E. Stanescu, Xilma R. Ortiz‐González, Christine Yoon, Christopher S. Chen, Rachana Haliyur, Marcela Briššová, Alvin C. Powers, Deborah L. French, Paul Gadue

    Published 2019
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  8. 8
    Thymidine Analogs Are Transferred from Prelabeled Donor to Host Cells in the Central Nervous System After Transplantation: A Word of Caution

    Thymidine Analogs Are Transferred from Prelabeled Donor to Host Cells in the Central Nervous System After Transplantation: A Word of Caution by Terry C. Burns, Xilma R. Ortiz‐González, María Gutiérrez-Pérez, C. Dirk Keene, Rohit Sharda, Zachary L. Demorest, Yuehua Jiang, Molly Nelson-Holte, Mario Soriano‐Navarro, Yasushi Nakagawa, M. R. Luquín, José Manuel García‐Verdugo, Felipe Prósper, Walter C. Low, Catherine M. Verfaillie

    Published 2005
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  9. 9
    Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

    Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup by Kevin A. Strauss, Lauren DuBiner, Mariella Simon, Michael V. Zaragoza, Partho P. Sengupta, Peng Li, Navneet Narula, Sandra Dreike, Julia Platt, Vincent Procaccio, Xilma R. Ortiz‐González, Erik G. Puffenberger, Richard I. Kelley, D. Holmes Morton, Jagat Narula, Douglas C. Wallace

    Published 2013
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  10. 10
    <i>De novo GABRG2</i>mutations associated with epileptic encephalopathies

    <i>De novo GABRG2</i>mutations associated with epileptic encephalopathies by Dingding Shen, Ciria C. Hernández, Wangzhen Shen, Ningning Hu, Annapurna Poduri, Beth R. Shiedley, Alex Rotenberg, Alexandre Datta, Steffen Leiz, Steffi Patzer, Rainer Boor, K. Ramsey, Ethan M. Goldberg, Ingo Helbig, Xilma R. Ortiz‐González, Johannes R. Lemke, Eric D. Marsh, Robert L. Macdonald

    Published 2016
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  11. 11
    Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

    Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy by Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern‐Holmes, Zara Richmond, Michael J. Bamshad, Xilma R. Ortiz‐González, Marco Tartaglia, Maya Chopra, Dan Doherty

    Published 2016
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  12. 12
    Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

    Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S... by Margaret A. Gustafson, Elizabeth M. McCormick, L. Perera, Matthew J. Longley, Renkui Bai, Jianping Kong, Matthew C. Dulik, Li Shen, Amy Goldstein, Shana E. McCormack, Benjamin L. Laskin, Bart P. Leroy, Xilma R. Ortiz‐González, Meredith G. Ellington, William C. Copeland, Marni J. Falk

    Published 2019
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  13. 13
    Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration

    Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration by Erik S. Musiek, Miranda M. Lim, Guangrui Yang, Adam Q. Bauer, Laura Qi, Yool Lee, Jee Hoon Roh, Xilma R. Ortiz‐González, Joshua T. Dearborn, Joseph P. Culver, Erik D. Herzog, John B. Hogenesch, David F. Wozniak, Krikor Dikranian, Benoit I. Giasson, David R. Weaver, David M. Holtzman, Garret A. FitzGerald

    Published 2013
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  14. 14
    <i>KCNQ2</i> encephalopathy

    <i>KCNQ2</i> encephalopathy by J Gordon Millichap, Kristen Park, Tammy N. Tsuchida, Bruria Ben‐Zeev, Lionel Carmant, Robert Flamini, Nishtha Joshi, Paul M. Levisohn, Eric D. Marsh, Srishti Nangia, Vinodh Narayanan, Xilma R. Ortiz‐González, Marc C. Patterson, Phillip L. Pearl, Brenda E. Porter, Keri Ramsey, Emily McGinnis, Maurizio Taglialatela, Molly Tracy, Baouyen Tran, Charu Venkatesan, Sarah Weckhuysen, Edward C. Cooper

    Published 2016
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  15. 15
    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss by Akemi Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo D. Garnica, Edward S. Gratz, Matthew A. Deardorff, Alisha Wilkins, Xilma R. Ortiz‐González, Katherine D. Mathews, Karin Panzer, Eva H. Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

    Published 2015
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  16. 16
    GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

    GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers by Dong Li, Hongjie Yuan, Xilma R. Ortiz‐González, Eric D. Marsh, Lifeng Tian, Elizabeth M. McCormick, Gabrielle J. Kosobucki, Wenjuan Chen, Anthony J. Schulien, Rosetta Chiavacci, Anel Tankovic, Claudia Naase, F Brueckner, Celina von Stülpnagel-Steinbeis, Chun Hu, Hirofumi Kusumoto, Ulrike B. S. Hedrich, Gina E. Elsen, Konstanze Hörtnagel, Elias Aizenman, Johannes R. Lemke, Hákon Hákonarson, Stephen F. Traynelis, Marni J. Falk

    Published 2016
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  17. 17
    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila by Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan L. Krock, Mohamad A. Mikati, Addie I. Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz‐González, Zöe Powis, Avni Santani, Lacey Smith, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier

    Published 2017
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  18. 18
    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder by Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia Ruivenkamp, Paulien A. Terhal, Marleen Simon, Rosemarie Smith, Jane A. Hurst, Heather M. McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly Dubbs, Xilma R. Ortiz‐González, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper

    Published 2018
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  19. 19
    <i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond

    <i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond by Ilaria Parenti, Mark Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero‐Montoya, Axel Bohring, Nuria C. Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A. Micheil Innes, Chiara Leoni, Leslie A. Lange, Sally Ann Lynch, Milena Mariani, Līvija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma R. Ortiz‐González, Eva Christina Prott, Heiko Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H. Zackai, Giuseppe Zampino, Birgit Zirn, Hákon Hákonarson, Matthew A. Deardorff, Gabriele Gillessen‐Kaesbach, Frank J. Kaiser

    Published 2021
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  20. 20
    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome by Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Blackburn, Alyssa Blesson, Arjan Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M. Cooper, Jonas Denecke, Anne Dieux‐Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren Bartik, Lauren Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W. Klee, Katja Kloth, Baiba Lāce, Marina Macchiaiolo, Julien L. Marcadier, Jeff M. Milunsky, Melanie P. Napier, Xilma R. Ortiz‐González, Pavel N. Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen Rasmussen, Deborah L. Renaud, Eric T. Rush, Carol Saunders, Duygu Selcen, Ann Seman, Deepali N. Shinde, Erica D. Smith, Thomas Smol, Lot Snijders Blok, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe M. Campeau, Elizabeth Bhoj

    Published 2020
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