Search Results - Matthew Pastore

  • Showing 1 - 9 results of 9
Refine Results
  1. 1
    The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

    The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly by Liz Varga, Matthew Pastore, Thomas W. Prior, Gail E. Herman, Kim L. McBride

    Published 2009
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Genetic testing in autism: how much is enough?

    Genetic testing in autism: how much is enough? by Gail E. Herman, Nathan Henninger, Karen Ratliff-Schaub, Matthew Pastore, Sara Fitzgerald, Kim L. McBride

    Published 2007
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A

    Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A by Fuki M. Hisama, Davor Lessel, Dru F. Leistritz, Katrin Friedrich, Kim L. McBride, Matthew Pastore, Gary S. Gottesman, Bidisha Saha, George M. Martin, Christian Kubisch, Junko Oshima

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy

    A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy by Umrao R. Monani, Matthew Pastore, Tatiana Gavrilina, Sibylle Jablonka, Thanh T. Le, Catia Andreassi, Jennifer M. DiCocco, Christian L. Lorson, Elliot J. Androphy, Michael Sendtner, Michael Podell, Arthur H.M. Burghes

    Published 2003
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

    Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially by Xi Luo, Jill A. Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J. Wierenga, Matthew Pastore, Dennis Bartholomew, Mauricio R. Delgado, Joshua Rotenberg, Richard A. Lewis, Lisa Emrick, Carlos A. Bacino, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Fan Xia, Yaping Yang, Seema R. Lalani, Timothy Lotze, James R. Lupski, Brendan Lee, Hugo J. Bellen, Michael F. Wangler

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome by Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester Brown, Pilar Magoulas, Anne Chun‐Hui Tsai, Areeg El‐Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Chin-To Fong, Tina Barbaro‐Dieber, Mary K. Kukolich, Lindsay C. Burrage, Elise G. Austin, Kory Keller, Matthew Pastore, Fabio Fernandez, Timothy Lotze, Angus A. Wilfong, Gabriela Purcarin, Wenmiao Zhu, William J. Craigen, Marianne McGuire, Mahim Jain, Erin Cooney, Mahshid S. Azamian, Matthew N. Bainbridge, Donna M. Muzny, Eric Boerwinkle, Richard Person, Zhiyv Niu, Christine M. Eng, James R. Lupski, Richard A. Gibbs, Arthur L. Beaudet, Yaping Yang, Meng C. Wang, Fan Xia

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature

    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature by Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endzinienė, Carlos R. Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne‐Marie Guerrot, Lars Hestbjerg Hansen, Aleksandra Jezela‐Stanek, C. Karsenty, Anneke Kievit, R. Frank Kooy, Christian Korff, Johanne Kragh Hansen, Martin J. Larsen, Valérie Layet, Gaëtan Lesca, Kim L. McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah W. Moore, Sophie Naudion, Caroline Nava, Marie‐Christine Nouguès, Elena Parrini, Matthew Pastore, Jurgen Schelhaas, Steven A. Skinner, Krzysztof Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjærg, Marjon van Slegtenhorst, Lynne A. Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke S. Møller

    Published 2020
    Get full text
    Revisão
    Save to List
    Saved in:
  8. 8
    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... by Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett H. Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al‐Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben‐Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne Katrin Lampe, Ajith Kumar, Melissa Lees, Muriel Holder‐Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema R. Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders by Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martin, Valeria Capra, Paúl Cárdenas, Céline Chappé, Hey Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George‐Abraham, Müge Güçsavaş‐Çalıkoğlu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, E Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Maria Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menéndez, Chantal F. Morel, Sue Moyer Harasink, Dayna‐Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew Pastore, Yezmin Perilla‐Young, Konrad Platzer, Nina Powell‐Hamilton, Rachel Rabin, Aisha Rekab, Raíssa Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer L. Sullivan, Katalin Szakszon, Queenie K.‐G. Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel

    Published 2025
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: