Resultats de la cerca - Weizhen Tan

  • Mostrar 1 - 19 resultats de 19
Refinar resultats
  1. 1
    Genetic testing in steroid-resistant nephrotic syndrome: when and how?

    Genetic testing in steroid-resistant nephrotic syndrome: when and how? per Svjetlana Lovric, Shazia Ashraf, Weizhen Tan, Friedhelm Hildebrandt

    Publicat 2015
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  2. 2
    Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome

    Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome per Fang Wang, Yanqin Zhang, Jianhua Mao, Zihua Yu, Zhu-Wen Yi, Yu Li, Jun Sun, Xiuxiu Wei, Fangrui Ding, Hongwen Zhang, Huijie Xiao, Yong Yao, Weizhen Tan, Svjetlana Lovric, Jie Ding, Friedhelm Hildebrandt

    Publicat 2017
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  3. 3
    Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

    Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis per Daniela A. Braun, Jennifer A. Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jennifer D. Varner, John A. Sayer, Danko Milošević, Michelle A. Baum, Velibor Tasić, Friedhelm Hildebrandt

    Publicat 2016
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  4. 4
    Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center

    Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center per Weizhen Tan, Svjetlana Lovric, Shazia Ashraf, Jia Rao, David Schapiro, Merlin Airik, Shirlee Shril, Heon Yung Gee, Michelle A. Baum, Ghaleb H. Daouk, Michael A. Ferguson, Nancy Rodig, Michael J.G. Somers, Deborah R. Stein, Asaf Vivante, Jillian K. Warejko, Eugen Widmeier, Friedhelm Hildebrandt

    Publicat 2017
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  5. 5
    Mutations in SLC26A1 Cause Nephrolithiasis

    Mutations in SLC26A1 Cause Nephrolithiasis per Heon Yung Gee, Ikhyun Jun, Daniela A. Braun, Jennifer A. Lawson, Jan Halbritter, Shirlee Shril, Caleb P. Nelson, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, John A. Sayer, Danko Milošević, Michelle A. Baum, Velibor Tasić, Min Goo Lee, Friedhelm Hildebrandt

    Publicat 2016
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  6. 6
    Perspectives of Rare Disease Experts on Newborn Genome Sequencing

    Perspectives of Rare Disease Experts on Newborn Genome Sequencing per Nina B. Gold, Sophia Adelson, Nidhi Shah, Shardae Williams, Sarah L. Bick, Emilie S. Zoltick, Jessica I. Gold, Alanna Strong, Rebecca Ganetzky, Amy E. Roberts, Melissa Walker, Alexander M. Holtz, Vijay G. Sankaran, Ottavia M. Delmonte, Weizhen Tan, Ingrid A. Holm, Jay R. Thiagarajah, Junne Kamihara, Jason Comander, Emily Place, Janey L. Wiggs, Robert C. Green

    Publicat 2023
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  7. 7
    Mutations in <i>WDR4</i> as a new cause of Galloway–Mowat syndrome

    Mutations in <i>WDR4</i> as a new cause of Galloway–Mowat syndrome per Daniela A. Braun, Shirlee Shril, Aditi Sinha, Ronen Schneider, Weizhen Tan, Shazia Ashraf, Tobias Hermle, Tilman Jobst‐Schwan, Eugen Widmeier, Amar J. Majmundar, Ankana Daga, Jillian K. Warejko, Makiko Nakayama, David Schapiro, Jing Chen, Merlin Airik, Jia Rao, Johanna Magdalena Schmidt, Charlotte A. Hoogstraten, Hannah Hugo, Jitendra Meena, Monkol Lek, Kristen M. Laricchia, Arvind Bagga, Friedhelm Hildebrandt

    Publicat 2018
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  8. 8
    A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

    A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome per Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L. Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J.G. Somers, Weizhen Tan, Shirlee Shril, Inès Fessi, Richard P. Lifton, Detlef Böckenhauer, Sherif M. El-Desoky, Jameela A. Kari, Martin Zenker, Markus J. Kemper, Dominik N Mueller, Hanan Fathy, Neveen A. Soliman, Friedhelm Hildebrandt

    Publicat 2014
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  9. 9
    Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

    Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome per Daniela A. Braun, Carolin E. Sadowski, Stefan Kohl, Svjetlana Lovric, Susanne Adina Astrinidis, Werner L. Pabst, Heon Yung Gee, Shazia Ashraf, Jennifer A. Lawson, Shirlee Shril, Merlin Airik, Weizhen Tan, David Schapiro, Jia Rao, Won‐Il Choi, Tobias Hermle, Markus J. Kemper, Martin Pöhl, Fatih Özaltın, Martin Konrad, Radovan Bogdanović, Rainer Büscher, U. Helmchen, Erkin Serdaroğlu, Richard P. Lifton, Wolfram Antonin, Friedhelm Hildebrandt

    Publicat 2016
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  10. 10
    Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

    Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients per Nina Mann, Daniela A. Braun, Kassaundra Amann, Weizhen Tan, Shirlee Shril, Dervla M. Connaughton, Makiko Nakayama, Ronen Schneider, Thomas M. Kitzler, Amelie T. van der Ven, Jing Chen, Hadas Ityel, Asaf Vivante, Amar J. Majmundar, Ankana Daga, Jillian K. Warejko, Svjetlana Lovric, Shazia Ashraf, Tilman Jobst‐Schwan, Eugen Widmeier, Hannah Hugo, Shrikant Mane, Leslie Spaneas, Michael J.G. Somers, Michael A. Ferguson, Avram Z. Traum, Deborah R. Stein, Michelle A. Baum, Ghaleb H. Daouk, Richard P. Lifton, Shannon Manzi, Khashayar Vakili, Heung Bae Kim, Nancy Rodig, Friedhelm Hildebrandt

    Publicat 2019
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  11. 11
    Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

    Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome per Jia Rao, Shazia Ashraf, Weizhen Tan, Amelie T. van der Ven, Heon Yung Gee, Daniela A. Braun, Krisztina Fehér, Sudeep P. George, Amin Esmaeilniakooshkghazi, Won‐Il Choi, Tilman Jobst‐Schwan, Ronen Schneider, Johanna Magdalena Schmidt, Eugen Widmeier, Jillian K. Warejko, Tobias Hermle, David Schapiro, Svjetlana Lovric, Shirlee Shril, Ankana Daga, Ahmet Nayır, Mohan Shenoy, Yincent Tse, Martin Bald, U. Helmchen, Sevgı Mır, Afig Berdelı, Jameela A. Kari, Sherif El Desoky, Neveen A. Soliman, Arvind Bagga, Shrikant Mane, Mohamad Aman Jairajpuri, Richard P. Lifton, Seema Khurana, José C. Martins, Friedhelm Hildebrandt

    Publicat 2017
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  12. 12
    Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

    Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis per Ankana Daga, Amar J. Majmundar, Daniela A. Braun, Heon Yung Gee, Jennifer A. Lawson, Shirlee Shril, Tilman Jobst‐Schwan, Asaf Vivante, David Schapiro, Weizhen Tan, Jillian K. Warejko, Eugen Widmeier, Caleb P. Nelson, Hanan Fathy, Zoran Gucev, Neveen A. Soliman, Seema Hashmi, Jan Halbritter, Margarita Halty, Jameela A. Kari, Sherif M. El-Desoky, Michael A. Ferguson, Michael J.G. Somers, Avram Z. Traum, Deborah R. Stein, Ghaleb H. Daouk, Nancy Rodig, A. Katz, Christian Hanna, Andrew L. Schwaderer, John A. Sayer, Ari J. Wassner, Shrikant Mane, Richard P. Lifton, Danko Milošević, Velibor Tasić, Michelle A. Baum, Friedhelm Hildebrandt

    Publicat 2017
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  13. 13
    Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

    Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) per Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel DiGiacomo, Kara M. Masse, Sarah Kadzielski, Claire Zar‐Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay

    Publicat 2024
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  14. 14
    Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

    Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome per Daniela A. Braun, Svjetlana Lovric, David Schapiro, Ronen Schneider, Jonathan Marquez, Maria Asif, Muhammad Sajid Hussain, Ankana Daga, Eugen Widmeier, Jia Rao, Shazia Ashraf, Weizhen Tan, C. Patrick Lusk, Amy Kolb, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Charlotte A. Hoogstraten, Kaitlyn Eddy, Thomas M. Kitzler, Shirlee Shril, Abubakar Moawia, Kathrin Schrage, Arwa Ishaq A. Khayyat, Jennifer A. Lawson, Heon Yung Gee, Jillian K. Warejko, Tobias Hermle, Amar J. Majmundar, Hannah Hugo, Birgit Budde, Susanne Motameny, Janine Altmüller, Angelika A. Noegel, Hanan Fathy, Daniel P. Gale, Syeda Seema Waseem, Ayaz Khan, Larissa Kerecuk, Seema Hashmi, Nilufar Mohebbi, Robert B. Ettenger, Erkin Serdaroğlu, Khalid Alhasan, Mais Hashem, Sara Gonçalves, Gema Ariceta, M Ubetagoyena, Wolfram Antonin, Shahid Mahmood Baig, Fowzan S. Alkuraya, Qian Shen, Hong Xu, Corinne Antignac, Richard P. Lifton, Shrikant Mane, Peter Nürnberg, Mustafa K. Khokha, Friedhelm Hildebrandt

    Publicat 2018
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  15. 15
    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency per Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee, Babak Oskouian, Srinivas Honnappa, Won‐Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A. Braun, Carolin E. Sadowski, Eugen Widmeier, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H. Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Mónica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, François Bernier, A. Micheil Innes, Jillian S. Parboosingh, Ryan E. Lamont, Julian Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuß, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S. Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Núria Lloberas, A. Madrid, Vikas R. Dharnidharka, Anne M. Connolly, Marcia Willing, Megan A. Cooper, Richard P. Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D. Saba, Friedhelm Hildebrandt

    Publicat 2017
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  16. 16
    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

    Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome per Jillian K. Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A. Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst‐Schwan, Eugen Widmeier, Amar J. Majmundar, Ronen Schneider, Heon Yung Gee, Johanna Magdalena Schmidt, Asaf Vivante, Amelie T. van der Ven, Hadas Ityel, Jing Chen, Carolin E. Sadowski, Stefan Kohl, Werner L. Pabst, Makiko Nakayama, Michael J.G. Somers, Nancy Rodig, Ghaleb H. Daouk, Michelle A. Baum, Deborah R. Stein, Michael A. Ferguson, Avram Z. Traum, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan Fathy, Martin Zenker, Sevcan A. Bakkaloğlu, Dominik Müller, Aytül Noyan, Fatih Özaltın, Melissa A. Cadnapaphornchai, Seema Hashmi, Jeffrey Hopcian, Jeffrey B. Kopp, Nadine Benador, Detlef Böckenhauer, Radovan Bogdanović, Nataša Stajić, Gil Chernin, Robert B. Ettenger, Henry Fehrenbach, Markus J. Kemper, Reyner Loza Munárriz, Ľudmila Podracká, Rainer Büscher, Erkin Serdaroğlu, Velibor Tasić, Shrikant Mane, Richard P. Lifton, Daniela A. Braun, Friedhelm Hildebrandt

    Publicat 2017
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  17. 17
    Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

    Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment per Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A. Lawson, Weizhen Tan, Tobias Hermle, Jillian K. Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst‐Schwan, Svjetlana Lovric, Daniela A. Braun, Heon Yung Gee, David Schapiro, Amar J. Majmundar, Carolin E. Sadowski, Werner L. Pabst, Ankana Daga, Amelie T. van der Ven, Johanna Magdalena Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K. Tripathi, Jenny Wong, Kirk N. Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A. Kari, Sherif El Desoky, Sawsan M. Jalalah, Radovan Bogdanović, Nataša Stajić, H. Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, J. Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A. Soliman, Shrikant Mane, Lewis Kaufman, Douglas R. Lowy, Mohamad Aman Jairajpuri, Richard P. Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt

    Publicat 2018
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  18. 18
    Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

    Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract per Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, Nina Mann, Makiko Nakayama, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Julian Schulz, Daniela A. Braun, Johanna Magdalena Schmidt, David Schapiro, Ronen Schneider, Jillian K. Warejko, Ankana Daga, Amar J. Majmundar, Weizhen Tan, Tilman Jobst‐Schwan, Tobias Hermle, Eugen Widmeier, Shazia Ashraf, Ali Amar, Charlotte A. Hoogstraaten, Hannah Hugo, Thomas M. Kitzler, Franziska Kause, Caroline M. Kolvenbach, Rufeng Dai, Leslie Spaneas, Kassaundra Amann, Deborah R. Stein, Michelle A. Baum, Michael J.G. Somers, Nancy Rodig, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Radovan Bogdanović, Nataša Stajić, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan Fathy, Danko Milošević, Muna Al‐Saffar, Hazem S. Awad, Loai Eid, Aravind Selvin, Prabha Senguttuvan, Simone Sanna‐Cherchi, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Michael W. Wilson, Shrikant Mane, Richard P. Lifton, Richard S. Lee, Stuart B. Bauer, Lu W, Heiko Reutter, Velibor Tasić, Shirlee Shril, Friedhelm Hildebrandt

    Publicat 2018
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  19. 19
    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly per Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Mónica Furlano, Ida Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer Hu, Anne‐Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloĝlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker

    Publicat 2017
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:

Eines de cerca: