検索結果 - Francesco Vetrini

結果の絞り込み
  1. 1
    Gene Therapy with Helper-Dependent Adenoviral Vectors: Current Advances and Future Perspectives

    Gene Therapy with Helper-Dependent Adenoviral Vectors: Current Advances and Future Perspectives 著者: Francesco Vetrini, Philip Ng

    出版事項 2010
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  2. 2
    SR-A and SREC-I Are Kupffer and Endothelial Cell Receptors for Helper-dependent Adenoviral Vectors

    SR-A and SREC-I Are Kupffer and Endothelial Cell Receptors for Helper-dependent Adenoviral Vectors 著者: Pasquale Piccolo, Francesco Vetrini, Pratibha Mithbaokar, Nathan C. Grove, Terry Bertin, Donna Palmer, Philip Ng, Nicola Brunetti‐Pierri

    出版事項 2013
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  3. 3
    Generation of a Kupffer Cell-evading Adenovirus for Systemic and Liver-directed Gene Transfer

    Generation of a Kupffer Cell-evading Adenovirus for Systemic and Liver-directed Gene Transfer 著者: Reeti Khare, Shannon M. May, Francesco Vetrini, Eric A. Weaver, Donna Palmer, Amanda Rosewell Shaw, Nathan Grove, Philip Ng, Michael A. Barry

    出版事項 2011
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  4. 4
    Modifications of Adenovirus Hexon Allow for Either Hepatocyte Detargeting or Targeting With Potential Evasion From Kupffer Cells

    Modifications of Adenovirus Hexon Allow for Either Hepatocyte Detargeting or Targeting With Potential Evasion From Kupffer Cells 著者: Jan-Michael Prill, Sigrid Espenlaub, Ulrike Samen, Tatjana Engler, Erika Schmidt, Francesco Vetrini, Amanda Rosewell Shaw, Nathan Grove, Donna Palmer, Philip Ng, Stefan Kochanek, Florian Kreppel

    出版事項 2010
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  5. 5
    A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

    A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB 著者: Carmine Settembre, Roberto Zoncu, Diego L. Medina, Francesco Vetrini, Serkan Erdin, SerpilUckac Erdin, Tuong Huynh, Mathieu Ferron, Gérard Karsenty, Michel Vellard, Valeria Facchinetti, David M. Sabatini, Andrea Ballabio

    出版事項 2012
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  6. 6
    TFEB Links Autophagy to Lysosomal Biogenesis

    TFEB Links Autophagy to Lysosomal Biogenesis 著者: Carmine Settembre, Chiara Di Malta, Vinicia Assunta Polito, Moisés Garcı́a-Arencibia, Francesco Vetrini, Serkan Erdin, Serpil Uckac Erdin, Tuong Huynh, Diego L. Medina, Pasqualina Colella, Marco Sardiello, David C. Rubinsztein, Andrea Ballabio

    出版事項 2011
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  7. 7
    Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency

    Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency 著者: Nunzia Pastore, Keith Blomenkamp, Fabio Annunziata, Pasquale Piccolo, Pratibha Mithbaokar, Rosa Maria Sepe, Francesco Vetrini, Donna Palmer, Kin Cheung Ng, Elena Polishchuk, Simona Iacobacci, Roman Polishchuk, Jeffrey Teckman, Andrea Ballabio, Nicola Brunetti‐Pierri

    出版事項 2013
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  8. 8
    TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

    TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop 著者: Carmine Settembre, Rossella De Cegli, Gelsomina Mansueto, Pradip Saha, Francesco Vetrini, Orane Visvikis, Tuong Huynh, Annamaria Carissimo, Donna Palmer, Tiemo J. Klisch, Amanda C. Wollenberg, Diego di Bernardo, Lawrence Chan, Javier E. Irazoqui, Andrea Ballabio

    出版事項 2013
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  9. 9
    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder 著者: Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang

    出版事項 2018
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  10. 10
    Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

    Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans 著者: Francesco Vetrini, Lisa C.A. D’Alessandro, Zeynep Coban‐Akdemir, Alicia Braxton, Mahshid S. Azamian, Mohammad K. Eldomery, Kathryn Miller, Chelsea Kois, Virginia Sack, Natasha Shur, Asha Rijhsinghani, Jignesh Chandarana, Yan Ding, Judy Holtzman, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Christine M. Eng, Neil A. Hanchard, Tamar Harel, Jill A. Rosenfeld, John W. Belmont, James R. Lupski, Yaping Yang

    出版事項 2016
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  11. 11
    CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

    CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels 著者: Bo Yuan, Lei Wang, Pengfei Liu, Chad A. Shaw, Hongzheng Dai, Lance Cooper, Wenmiao Zhu, Stephanie A. Anderson, Linyan Meng, Xia Wang, Yue Wang, Fan Xia, Rui Xiao, Alicia Braxton, Sandra Peacock, Eric Schmitt, Patricia A. Ward, Francesco Vetrini, Weimin He, Theodore Chiang, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, Carlos A. Bacino, Christine M. Eng, Yaping Yang, James R. Lupski, Weimin Bi

    出版事項 2020
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  12. 12
    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases 著者: Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia Braxton, Patricia A. Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice Smith, Seema R. Lalani, Paweł Stankiewicz, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

    出版事項 2019
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  13. 13
    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features 著者: Jing Zhang, Tomasz Gambin, Bo Yuan, Przemysław Szafrański, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Makanko Komara, Bassam R. Ali, Elizabeth Roeder, Laura McAuley, Daniel Roy, David K. Manchester, Pilar Magoulas, Lauren E. King, Vickie Hannig, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A. Ward, Sau Wai Cheung, Weimin Bi, Christine M. Eng, James R. Lupski, Yaping Yang, Ankita Patel, Seema R. Lalani, Fan Xia, Paweł Stankiewicz

    出版事項 2017
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  14. 14
    Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

    Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features 著者: Paweł Stankiewicz, Tahir Naeem Khan, Przemysław Szafrański, Leah Slattery, Haley Streff, Francesco Vetrini, Jonathan A. Bernstein, Chester Brown, Jill A. Rosenfeld, Surya P. Rednam, Sarah Scollon, Katie Bergstrom, D. Williams Parsons, Sharon E. Plon, Marta Wey Vieira, Caio Robledo D’Angioli Costa Quaio, Wagner Antonio da Rosa Baratela, Johanna Acosta, Ruth Armstrong, Sarju Mehta, Patrick Rump, Rolph Pfundt, Raymond Lewandowski, Erica M. Fernandes, Deepali N. Shinde, Sha Tang, Juliane Hoyer, Christiane Zweier, André Reis, Carlos A. Bacino, Rui Xiao, Amy M. Breman, Janice Smith, Nicholas Katsanis, Bret L. Bostwick, Bernt Popp, Erica E. Davis, Yaping Yang

    出版事項 2017
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  15. 15
    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females

    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females 著者: Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Yılmaz Güleç, Yunyun Jiang, Sandra Darilek, Adam Hansen, Michael M. Khayat, Davut Pehli̇van, Juliette Piard, Donna M. Muzny, Neil A. Hanchard, John W. Belmont, Lionel Van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Adekunle M. Adesina, Shan Chen, Yi‐Chien Lee, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti

    出版事項 2018
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  16. 16
    Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

    Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies 著者: Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin Currall, Kathryn O’Keefe, Emma Pierce‐Hoffman, Nehir Edibe Kurtas, Christopher W. Whelan, Stephanie P. Hao, Ben Weisburd, Vahid Jalili, Jack Fu, Isaac Wong, Ryan L. Collins, Xuefang Zhao, Christina Austin‐Tse, Emily Evangelista, Gabrielle Lemire, Vimla S. Aggarwal, Diane Lucente, Laura D. Gauthier, Charlotte Tolonen, Nareh Sahakian, Christine Stevens, Joon‐Yong An, Shan Dong, Mary E. Norton, Tippi C. MacKenzie, Bernie Devlin, Kelly L. Gilmore, Bradford C. Powell, Alicia Brandt, Francesco Vetrini, Michelle DiVito, Stephan Sanders, Daniel G. MacArthur, Jennelle C. Hodge, Anne O’Donnell‐Luria, Heidi L. Rehm, Neeta L. Vora, Brynn Levy, Harrison Brand, Ronald J. Wapner, Michael E. Talkowski

    出版事項 2023
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  17. 17
    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations 著者: Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y. Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K. Eldomery, Zeynep H. Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Kay Koenig, Nada Memon, Laura S. Farach, Bradley P. Coe, Mahshid S. Azamian, Patricia Hernandez, Gladys Zapata, Shalini N. Jhangiani, Donna M. Muzny, Timothy Lotze, Gary Clark, Angus A. Wilfong, Hope Northrup, Adekunle M. Adesina, Carlos A. Bacino, Fernando Scaglia, Penelope E. Bonnen, Jane E. Crosson, Jessica Duis, Gustavo Maegawa, David Coman, Anita Inwood, Jim McGill, Eric Boerwinkle, Brett H. Graham, Art Beaudet, Christine M. Eng, Neil A. Hanchard, Fan Xia, Jordan S. Orange, Richard A. Gibbs, James R. Lupski, Yaping Yang

    出版事項 2016
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  18. 18
    BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

    BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms 著者: Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Uğur, Jeremy Wegner, Tiana M. Scott, Brett Bostwick, David R. Murdock, Hongzheng Dai, Elena Perenthaler, Anita Nikoncuk, Marjon van Slegtenhorst, Alice S. Brooks, Boris Keren, Caroline Nava, Cyril Mignot, Jessica Douglas, Lance H. Rodan, C. Nowak, Sian Ellard, Karen Stals, Sally Ann Lynch, Marie Faoucher, Gaëtan Lesca, Patrick Edery, Kendra Engleman, Dihong Zhou, Isabelle Thiffault, John Herriges, Jennifer Gass, Raymond J. Louie, Elliot Stolerman, Camerun Washington, Francesco Vetrini, Aiko Iwata‐Otsubo, Victoria M. Pratt, Erin Conboy, Kayla Treat, Nora Shannon, Jose A. Camacho, Emma Wakeling, Bo Yuan, Chun‐An Chen, Jill A. Rosenfeld, Monte Westerfield, Michael F. Wangler, Shinya Yamamoto, Cigall Kadoch, Daryl A. Scott, Hugo J. Bellen

    出版事項 2020
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  19. 19
    Use of Exome Sequencing for Infants in Intensive Care Units

    Use of Exome Sequencing for Infants in Intensive Care Units 著者: Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patricia A. Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari Tokita, Teresa Santiago‐Sim, Hongzheng Dai, Theodore Chiang, Hadley Stevens Smith, Mahshid S. Azamian, Laurie Robak, Bret L. Bostwick, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A. Bacino, Neil A. Hanchard, Michael F. Wangler, Daryl A. Scott, Chester Brown, Jianhong Hu, John W. Belmont, Lindsay C. Burrage, Brett H. Graham, V. Reid Sutton, William J. Craigen, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Donna M. Muzny, Marcus J. Miller, Xia Wang, Magalie S. Leduc, Rui Xiao, Pengfei Liu, Chad A. Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M. Eng, Yaping Yang, Seema R. Lalani

    出版事項 2017
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  20. 20
    Reanalysis of Clinical Exome Sequencing Data

    Reanalysis of Clinical Exome Sequencing Data 著者: Pengfei Liu, Linyan Meng, Elizabeth A. Normand, Fan Xia, Xiaofei Song, Andrew R. Ghazi, Jill A. Rosenfeld, Pilar Magoulas, Alicia Braxton, Patricia A. Ward, Hongzheng Dai, Bo Yuan, Weimin Bi, Rui Xiao, Xia Wang, Theodore Chiang, Francesco Vetrini, Weimin He, Hanyin Cheng, Jie Dong, Charul Gijavanekar, Paul J. Benke, Jonathan A. Bernstein, Tanya N. Eble, Yasemen Eroğlu, Deanna Erwin, Luis Escobar, James B. Gibson, Karen W. Gripp, Soledad Kleppe, Mary Kay Koenig, Andrea M. Lewis, Marvin R. Natowicz, Pedro Mancías, LaKeesha Minor, Fernando Scaglia, Christian P. Schaaf, Haley Streff, Hilary J. Vernon, Crescenda L Uhles, Elaine H. Zackai, Nan Wu, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Seema R. Lalani, Chad A. Shaw, Christine M. Eng, James R. Lupski, Yaping Yang

    出版事項 2019
    全文の入手 全文の入手
    Carta
    お気に入りに追加
    保存先:

検索ツール: