检索结果 - Wojciech Wiszniewski

Refine Results
  1. 1
    Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero–Truncating Mutants

    Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero–Truncating Mutants 由 Mehrdad Khajavi, Ken Inoue, Wojciech Wiszniewski, Tomoko Ohyama, G. Jackson Snipes, James R. Lupski

    出版 2005
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    Curcumin facilitates a transitory cellular stress response in Trembler-J mice

    Curcumin facilitates a transitory cellular stress response in Trembler-J mice 由 Yuji Okamoto, Davut Pehli̇van, Wojciech Wiszniewski, C Beck, G. Jackson Snipes, James R. Lupski, Mehrdad Khajavi

    出版 2013
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies

    ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies 由 Wojciech Wiszniewski, Charles M. Zaremba, Alexander N. Yatsenko, Milan Jamrich, Theodore G. Wensel, Richard A. Lewis, James R. Lupski

    出版 2005
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-J Mouse: A Potential Therapy for Inherited Neuropathy

    Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-J Mouse: A Potential Therapy for Inherited Neuropathy 由 Mehrdad Khajavi, Kensuke Shiga, Wojciech Wiszniewski, Feng He, Chad A. Shaw, Jiong Yan, Theodore G. Wensel, G. Jackson Snipes, James R. Lupski

    出版 2007
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Secondary findings and carrier test frequencies in a large multiethnic sample

    Secondary findings and carrier test frequencies in a large multiethnic sample 由 Tomasz Gambin, Shalini N. Jhangiani, Jennifer E. Below, Ian M. Campbell, Wojciech Wiszniewski, Donna M. Muzny, Jeffrey Staples, Alanna C. Morrison, Matthew N. Bainbridge, Samantha Penney, Amy L. McGuire, Richard A. Gibbs, James R. Lupski, Eric Boerwinkle

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Whole-Genome Sequencing for Optimized Patient Management

    Whole-Genome Sequencing for Optimized Patient Management 由 Matthew N. Bainbridge, Wojciech Wiszniewski, David R. Murdock, Jennifer Friedman, Claudia Gonzaga‐Jauregui, Irene Newsham, Jeffrey G. Reid, John K. Fink, Margaret Morgan, Marie‐Claude Gingras, Donna M. Muzny, Linh D. Hoang, Shahed Yousaf, James R. Lupski, Richard A. Gibbs

    出版 2011
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Mutations in<i>VRK1</i>Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

    Mutations in<i>VRK1</i>Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly 由 Claudia Gonzaga‐Jauregui, Timothy Lotze, Leila Jamal, Samantha Penney, Ian M. Campbell, Davut Pehli̇van, Jill V. Hunter, Suzanne L. Woodbury, Gerald V. Raymond, Adekunle M. Adesina, Shalini N. Jhangiani, Jeffrey G. Reid, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Richard A. Gibbs, Wojciech Wiszniewski

    出版 2013
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    Molecular diagnostic experience of whole-exome sequencing in adult patients

    Molecular diagnostic experience of whole-exome sequencing in adult patients 由 Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James, Matthew N. Bainbridge, Zhiyv Niu, Xia Wang, Shweta U. Dhar, Wojciech Wiszniewski, Zeynep H. Coban Akdemir, Tomasz Gambin, Fan Xia, Richard Person, Magdalena Walkiewicz, Chad A. Shaw, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Christine M. Eng, Yaping Yang, Richard A. Gibbs, James R. Lupski, Eric Boerwinkle, Sharon E. Plon

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

    NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability 由 Daniëlle G.M. Bosch, F. Nienke Boonstra, Claudia Gonzaga‐Jauregui, Mafei Xu, Joep de Ligt, Shalini N. Jhangiani, Wojciech Wiszniewski, Donna M. Muzny, Helger G. Yntema, Rolph Pfundt, Lisenka E.L.M. Vissers, Liesbeth Spruijt, Ellen A.W. Blokland, Chun‐An Chen, Richard A. Lewis, Sophia Y. Tsai, Richard A. Gibbs, Ming‐Jer Tsai, James R. Lupski, Huda Y. Zoghbi, Frans P.M. Cremers, Bert B.A. de Vries, Christian P. Schaaf

    出版 2014
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations 由 Elizabeth A. Werren, Emily Peirent, Henna Jäntti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Paweł Gawliński, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, Koen L.I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun Rappold, Rachel Rabin, John Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie Bielas

    出版 2024
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  11. 11
    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy 由 Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burçak Özeş, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim Lawson, Davut Pehli̇van, Yuji Okamoto, Marjorie Withers, Pedro Mancías, Anne Slavotinek, Pamela J. Reitnauer, Meryem Tuba Goksungur, Michael E. Shy, Thomas O. Crawford, M. Kœnig, Jason R. Willer, Brittany Flores, Igor Pediaditrakis, Önder Us, Wojciech Wiszniewski, Yeşim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  12. 12
    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability 由 Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A. Nannenberg, Lamiae Boualla, Nico A. Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep H. Coban Akdemir, Richard J. Fish, Mohammad K. Eldomery, Ilham Ratbi, Arthur A.M. Wilde, Teun P. de Boer, William F. Simonds, Marguerite Neerman‐Arbez, V. Reid Sutton, Fernando Kok, James R. Lupski, Alexandre Reymond, Connie R. Bezzina, Jeroen Bakkers, Giuseppe Merla

    出版 2016
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  13. 13
    COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

    COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis 由 Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski, Timothy J. Vece, Max Jan, Youbao Sha, Maike Thamsen, Regie Lyn P. Santos‐Cortez, Kwanghyuk Lee, Tomasz Gambin, Lisa R. Forbes, Christopher S. Law, Asbjørg Stray‐Pedersen, Mickie Cheng, Emily M. Mace, Mark S. Anderson, Dongfang Liu, Ling Tang, Sarah K. Nicholas, Karen Nahmod, George Makedonas, Debra Canter, Pui‐Yan Kwok, John Hicks, Kirk D. Jones, Samantha Penney, Shalini N. Jhangiani, Michael D. Rosenblum, Sharon Dell, Michael Waterfield, Feroz R. Papa, Donna M. Muzny, Noah Zaitlen, Suzanne M. Leal, Claudia Gonzaga‐Jauregui, Eric Boerwinkle, N. Tony Eissa, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Anthony K. Shum

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  14. 14
    Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

    Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function 由 Ender Karaca, Stefan Weitzer, Davut Pehli̇van, Hiroshi Shiraishi, Tasos Gogakos, Toshikatsu Hanada, Shalini N. Jhangiani, Wojciech Wiszniewski, Marjorie Withers, Ian M. Campbell, Serkan Erdin, Sedat Işıkay, Luis M. Franco, Claudia Gonzaga‐Jauregui, Tomasz Gambin, Violet Gelowani, Jill V. Hunter, Gözde Yeşil, Erkan Koparir, Sarenur Yılmaz, Miguel Brown, Daniel Briskin, Markus Hafner, Pavel Morozov, Thalia A. Farazi, Christian Bernreuther, Markus Glatzel, Siegfried Trattnig, Joachim Friske, Claudia Kronnerwetter, Matthew N. Bainbridge, Alper Gezdirici, Mehmet Seven, Donna M. Muzny, Eric Boerwinkle, Mustafa Özen, Tim Clausen, Thomas Tuschl, Adnan Yüksel, Andreas Heß, Richard A. Gibbs, Javier Martı́nez, Josef Penninger, James R. Lupski

    出版 2014
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  15. 15
    Lessons learned from additional research analyses of unsolved clinical exome cases

    Lessons learned from additional research analyses of unsolved clinical exome cases 由 Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel, Jill A. Rosenfeld, Tomasz Gambin, Asbjørg Stray‐Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R. Lalani, Christian P. Schaaf, Michael F. Wangler, Carlos A. Bacino, Richard A. Lewis, Lorraine Potocki, Brett H. Graham, John W. Belmont, Fernando Scaglia, Jordan S. Orange, Shalini N. Jhangiani, Theodore Chiang, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Fan Xia, Arthur L. Beaudet, Eric Boerwinkle, Christine M. Eng, Sharon E. Plon, V. Reid Sutton, Richard A. Gibbs, Jennifer E. Posey, Yaping Yang, James R. Lupski

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  16. 16
    The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities 由 Jessica X. Chong, Kati J. Buckingham, Shalini N. Jhangiani, Corinne D. Boehm, Nara Sobreira, Joshua D. Smith, Tanya M. Harrell, Margaret J. McMillin, Wojciech Wiszniewski, Tomasz Gambin, Zeynep H. Coban Akdemir, Kimberly F. Doheny, Alan F. Scott, Dimitri Avramopoulos, Aravinda Chakravarti, Julie Hoover‐Fong, Debra Mathews, P. Dane Witmer, Hua Ling, Kurt N. Hetrick, Lee Watkins, Karynne Patterson, Frédéric Reinier, Elizabeth Blue, Donna M. Muzny, Martin Kircher, Kaya Bilgüvar, Francesc López‐Giráldez, V. Reid Sutton, Holly K. Tabor, Suzanne M. Leal, Murat Günel, Shrikant Mane, Richard A. Gibbs, Eric Boerwinkle, Ada Hamosh, Jay Shendure, James R. Lupski, Richard P. Lifton, David Valle, Deborah A. Nickerson, Michael J. Bamshad

    出版 2015
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  17. 17
    A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

    A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases 由 Shinya Yamamoto, Manish Jaiswal, Wu‐Lin Charng, Tomasz Gambin, Ender Karaca, Ghayda Mirzaa, Wojciech Wiszniewski, Héctor Sandoval, Nele A. Haelterman, Bo Xiong, Ke Zhang, Vafa Bayat, Gabriela David, Tongchao Li, Kuchuan Chen, Upasana Gala, Tamar Harel, Davut Pehli̇van, Samantha Penney, Lisenka E.L.M. Vissers, Joep de Ligt, Shalini N. Jhangiani, Ya‐Jing Xie, Stephen H. Tsang, Yeşim Parman, Merve Sivaci, Esra Battaloğlu, Donna M. Muzny, Ying-Wooi Wan, Zhandong Liu, Alexander T. Lin-Moore, Robin D. Clark, Cynthia J. Curry, Nichole Link, Karen L. Schulze, Eric Boerwinkle, William B. Dobyns, Rando Allikmets, Richard A. Gibbs, Rui Chen, James R. Lupski, Michael F. Wangler, Hugo J. Bellen

    出版 2014
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  18. 18
    Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

    Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression 由 Davut Pehli̇van, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper Eisfeldt, Maria Pettersson, Lynn Liu, Marwan Shinawi, Virginia Kimonis, Wojciech Wiszniewski, Kyle McKenzie, Timo Roser, Angela Maria Vianna‐Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James Paul Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M.B. Carvalho

    出版 2024
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  19. 19
    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 由 Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  20. 20
    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease 由 Ender Karaca, Tamar Harel, Davut Pehli̇van, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban‐Akdemir, Claudia Gonzaga‐Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Campbell, Jill V. Hunter, Mehmed M. Atik, Hilde Van Esch, Bo Yuan, Wojciech Wiszniewski, Sedat Işıkay, Gözde Yeşil, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Hatip Aydın, Tülay Tos, Ayşe Aksoy, Darryl C. De Vivo, Preti Jain, Bilgen Bilge Geçkinli, Özlem Sezer, Davut Gül, Burak Durmaz, Özgür Çoğulu, Ferda Özkınay, Vehap Topçu, Şükrü Candan, Alper Han Çebi, Mevlit Íkbal, Elif Yılmaz Güleç, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coşkun, Salih Cicek, Kadri Karaer, Asuman Koparır, Mehmet Buğrahan Düz, Emre Kırat, Elif Fenercioğlu, Hakan Ulucan, Mehmet Seven, Tülay Güran, Nursel Elçioğlu, Mahmut Selman Yıldırım, Dilek Aktaş, Mehmet Alikaşifoĝlu, Mehmet Türe, Tahsin Yakut, John D. Overton, Adnan Yüksel, Mustafa Özen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R. Lupski

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: