Zobrazeno 1 - 10
of 172
pro vyhledávání: '"Françoise Le Deist"'
Autor:
Jun Bao, Yi-Hui Wang, Quan-Hua Liu, Yi-Xiao Bao, Nurit Azouz, Julie Caldwell, Leanne Ray, Mark Rochman, Melissa Mingler, Matthew Eilerman, Ting Wen, Jocelyn Biagini Myers, Gurjit Khurana Hershey, Leah Kottyan, Lisa Martin, Rothenberg Marc, Victor Gonzalez-Uribe, Jaime Del Rio-Chivardi, Blanca Del Rio-Navarro, Hongfei Lou, Siyuan Ma, Yan Zhao, Feifei Cao, Fei He, Zhongyan Liu, Chengshuo Wang, Claus Bachert, Luo Zhang, Elissa Abrams, Allan Becker, Amit Kandhare, Subhash Bodhankar, Nicole Grossman, Gheorghe Doros, Francine Laden, Anne Fuhlbrigge, Michael Wechsler, Wilson Pace, Barbara Yawn, Elliot Israel, Junehyuk Lee, Frederick Adler, Peter Kim, Yung Feng Huang, Ying Yao Chen, Chiun Yen Pan, Herng Sheng Lee, Michael Khalemsky, David G. Schwartz, Pavel Kolkhir, Dmitry Pogorelov, Nikolay Kochergin, Hirsh Komarow, Michael Young, Robin Eisch, Linda Scott, Dean Metcalfe, Alexander Singer, Andrew Wakeman, Thomas Gerstner, Woo-Jung Song, Ji-Su Shim, Ha-Kyeong Won, Sung-Yoon Kang, Kyoung-Hee Sohn, Byung-Keun Kim, Eun-Jung Jo, Min-Hye Kim, Sang-Heon Kim, Heung-Woo Park, Sun-Sin Kim, Yoon-Seok Chang, Alyn H. Morice, Byung-Jae Lee, Sang-Heon Cho, Kyung-Up Min, Maria Assunta Boscolo, Giulio Brivio, Sergio Bosisio, Nicoletta Manzocchi, Edoardo Pulixi, Giulia Grignani, Eloisia D’Andrea, Massimo Ricci, Elena Passini, Maurizio Italia, Marilyn Urrutia-Pereira, Stefani Fagundes, Vinicius Jardim Oliano, Dirceu Solé, Sadia Benzaquen, Alejandro Aragaki, Ricardo Balestra, Dawn Harden, Danielle Caudell-Stamper, Gilbert Glady, Mark Holbreich, Nataliya Lyakhovska, Igor Kaidashev, Jaromir Bystron, Beata Hutyrova, Galina Balakirski, Luk Vanstreels, Gerda Wurpts, Hans F. Merk, Jens Malte Baron, Johanna Plange, Hans-Peter Rihs, Monika Raulf, Stefani Roeseler, Alberto Tolcachier, Armando Chamorro, Ruth Otero, Joel Brooks, Michael Hess, Jared Benz, Joseph MacDonald, Usma Chatha, Dale Lent, Şükran Köse, Bengü Gireniz Tatar, Gülgün Akkoçlu, İbrahim Çukurova, İlker Ödemiş, Ayşin Kılınç Toker, Abdullahi Hasssan, Abdulrazaq Abdullahi Gobir, Cheol-Woo Kim, Young Hwa Choi, Jeong Hye Lee, Rae Jeong Cho, Yu Ran Nam, Joo Hyun Nam, Woo Kyung Kim, Ivana Filipovic, Zorica Zivkovic, Djordje Filipovic, Dana Shik, Andrew Smith, Wang Yui Hsi, Stuart Friedman, Yonatan Gizaw, Rima Bakhda, Kumail Mohammed, Richard Wasserman, Angela Hague, Deanna Pence, Joanna Rolen, Robert Sugerman, Stacy Silvers, Qurat Kamili, Nadezhda Knauer, Alexandr Zazernyi, Elena Blinova, Daria Demina, Vladimir Kozlov, Komal Agrawal, Sagar Kale, Naveen Arora, Volha Vasilkova, Tatiana Mokhort, William Silvers, Rachel Eisenberg, Rushita Mehta, Arye Rubinstein, Antony Aston, Paul Turner, Monica Ruiz-Garcia, Robert Boyle, Simon Brown, Yael Dinur Schejter, Adi Ovadia, Vy Kim, Brenda Reid, Chaim Roifman, Lana Rosenfield, Ernie Avilla, Laurie Harada, Marilyn Allen, Susan Waserman, Ho Joo Yoon, Gun Woo Koo, Suk-Il Chang, Hye-Ran Yoon, Dong Won Park, Tai Sun Park, Ji-Yong Moon, Tae Hyung Kim, Jang Won Sohn, Dong Ho Shin, Tsici Jorjoliani, Lia Jorjoliani, Nino Adamia, Nona katamadze, Deepika Ramachandra, Liana Jorjoliani, Rusudan Karseladze, Lali Saginadze, Natalia Chkuaseli, Anna Dolgova, Olga Stukolova, Anna Sudina, Anna Cherkashina, German Shipulin, Richard Rosenthal, Harvey Howe, Paul Knause, Rony Greemberg, Jean Jacques De Bruycker, Isabel Fernandez, Françoise Le Deist, Elie Haddad, Yeong Ho Rha, Kyung Suk Lee, Sun Hee Choi, Herman Tam, Estelle Simons, Elinor Simons, Maria Golebiowska-Wawrzyniak, Katarzyna Markiewicz, Yoram Faitelson, Miguel Stein, Avigdor Mandelberg, Ilan Dalal, Michael Levin, Lelani Hobane, Wisdom Basera, Maresa Botha, Claudia Gray, Heather Zar, Biserka Jovkovska Kjaeva, Zoran Arsovski, Vesna Grivcheva-Panovska, Adeyinka Odebode, Adedotun Adekunle, Peter Adeonipekun, Ebenezer Farombi, Nadezhda Camacho-Ordoñez, Alejandrina Josefina Martinez-Vázquez, María de la Luz H. García-Cruz, Qi Tan, Rui Min, Guan-qun Dai, Wei-Ping Xie, Huang Mao, Hong Wang, Rakesh Yadav, Sneha Singh, Divya Yadav, Ekaterina Khaleva, Henry T. Bahnson, Amber Franz, Lene Heise Garvey, Nicola Jay, Rubaiyat Haque, Adam Fox, Gideon Lack, George du Toit, Snezana Radic, Branislava Milenkovic, Ana Neskovic, Ljiljana Danojevic, Liat Nachshon, Michael Goldberg, Michael Levy, Yitzhak Katz, Arnon Elizur, Cristine Rosario, Juliana Kasper, Herbeto Chong-Neto, Carlos Riedi, Nelson Rosario, Michael B. Levy, Ronly Har-Even, Mor Carmel, Michael R. Goldberg, Maia Kherkheulidze, Nani Kavlashvili, Eka Kandelaki, Nino Adamai, Irma Ubiria, Andrea Burke, Monika Kastner, Denica Zheleva, Razvigor Darlenski, Konstantinos Bozinakis, Anastasios Kriebardis, Sofia Styliara, Aikaterini Karastathi, Nikolaos Farmakas, Maria Luiza Kraft Kohler Ribeiro, Ana Carolina Barcellos, Hannah Gabriele Ferreira Silva, Luís Henrique Mattei Carletto, Marcela Carolina Bet, Nathalia Zorze Rossetto, Nelson Augusto Rosario, Herberto Jose Chong-Neto, Fernanda Valença, Marina Novaes, Mariana Gomes, Carla Seifert, Alfredo Neto, Flavia Loyola, José Rios, Tatiana Silva, Aline Neves, Oznur Abadoglu, Bilun Gemicioglu, Hasan Bayram, Arif Cimrin, Levent Akyildiz, Aykut Cilli, Hakan Gunen, Tevfik Ozlu, Mecit Suerdem, Esra Uzaslan, Zeynep Misirligil, Snezana Ristic-Stojanovic, A. Milicevic, A. Milenkovic, Jelena Cvejic, Jelena Jankovic, Sanja Dimic-Janjic, Natasa Djurdjevic, Vladyslava Barzylovych, Tetiana Umanets, Anastasia Barzylovych, Karyn Winkler, Jessica Margarinos, Dylan Martin, Maja Nowakowski, Rauno Joks, Tsili Zangen, Olga Bernadsky, Mona Boaz, Gratiana Hermann, Rachel Aviv, Olga Kuperboim, Larisa Ramichanov, Efrat Broide, Raanan Shamir, Noam Zevit, Ron Shaoul, Alex Fich, Arie Levine, Isaac Melamed, Roopesh Singh Gangwar, Yael Minai-Fleminger, Mansour Seaf, Amichai Gutgold, Aarti Shikotra, Anoop Chauhan, Stephen Holgate, Peter Bradding, Peter Howarth, Ron Eliashar, Neville Berkman, Francesca Levi-Schaffer, Sung-il Woo, Betul Celik, Tangul Bulut, Arzu Didem Yalcin, Luiz Querino Caldas, Ronit Confino-Cohen, Yossi Rosman, Arnon Goldberg, Oded Breuer, Roopesh Singh, Ahlam Barhoum, Eitan Kerem, Tatiana Slavyanskaya, Revaz Sepiashvili, Elena A. Blinova, Ekaterina A. Pashkina, Marina I. Leonova, Vera M. Nepomnyaschikh, Darya V. Demina, Vladimir A. Kozlov, Revital Shamri, Kristen M. Young, Peter F. Weller, Rodolfo de Paula Vieira, Manoel Carneiro Oliveira-Junior, Nilsa Regina Damasceno-Rodrigues, Fernanda Magalhães Arantes-Costa, Milton Arruda Martins, Ana Paula Ligeiro Oliveira, Alfred Bernard, Antonia Sardella, Catherine Voisin, Simon Royce, Hamish Philpott, Sanjay Nandurkar, Francis Thien, Peter Gibson, Rodolfo Bianchini, Franziska Roth-Walter, Anna Ohradanova-Repic, Gerlinde Hofstetter, Ina Herrmann, Maria Isabel Carvalho, Karin Hufnagl, Erika Bajna, Georg Roth, Hannes Stockinger, Erika Jensen-Jarolim, Meital Almog, Aharon Kessel, Larisa Apov, Carlos Sanchez Salguero, Alvaro Sanchez Chacon, Abbos Nazarov, Shaxbos Ergashev, Irina Nesterova, Svetlana Kovaleva, Galina Chudilova, Ludmila Lomtatidze, Sarah De Schryver, Alizee Dery, Ann Clarke, Kari Nadeau, Kimberly Weatherall, Celia Greenwood, Denise Daley, Yuka Asai, Moshe Ben-Shoshan, Irina Balmasova, Elena Malova, Stefanie Wagner, Luis F. Pacios, Michael Wallner, Markus Wiederstein, Anna E. Tevs, Nataly Tataurshchikova, Baigalmaa Sangidorj, Anna Ronzhina, Manana Chikhladze, Oliver F. Wirz, Willem van de Veen, David Mirer, Hideaki Morita, Can Altunbulakli, Sebastian L. Johnston, Nicholas Glanville, Nikolaos G. Papadopoulos, Cezmi A. Akdis, Mübeccel Akdis, Avner Reshef, Marc Riedl, Vesna Grivcheva Panovska, Dumitru Moldovan, James Baker, William H. Yang, Sladjana Andrejevic, Richard F. Lockey, Roman Hakl, Shmuel Kivity, Luca Bellizzi, Joseph R. Harper, Anurag Relan, Marco Cicardi
Publikováno v:
World Allergy Organization Journal, Vol 10, Iss S1, Pp 1-39 (2017)
Externí odkaz:
https://doaj.org/article/27fc38aa701f42f9a822de98c71c30b2
Autor:
Ferran Casals, Alan Hodgkinson, Julie Hussin, Youssef Idaghdour, Vanessa Bruat, Thibault de Maillard, Jean-Christophe Grenier, Elias Gbeha, Fadi F Hamdan, Simon Girard, Jean-François Spinella, Mathieu Larivière, Virginie Saillour, Jasmine Healy, Isabel Fernández, Daniel Sinnett, Jacques L Michaud, Guy A Rouleau, Elie Haddad, Françoise Le Deist, Philip Awadalla
Publikováno v:
PLoS Genetics, Vol 9, Iss 9, p e1003815 (2013)
Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations. Rare variants are enriched for functional mutations and are expected to expla
Externí odkaz:
https://doaj.org/article/9cc47deb1ace4078a7e93a220fcc9d66
Autor:
Alexandra Bateman, Françoise Le Deist, Eamonn Sheridan, Christine P. Diggle, Erika Ignatius, Jill A. Rosenfeld, Tuula Lönnqvist, Anik St-Denis, Laura Fairbrother, Elizabeth Berry-Kravis, Louise Hattingh, Clare V. Logan, Colin A. Johnson, Philippe M. Campeau, Norbert F. Ajeawung, Taroh Kinoshita, Jessica Tardif, Michael Scott Perry, Christopher Carroll, Christopher P. Bennett, Pirjo Isohanni, Sophie Ehresmann, Fan Xia, David A. Parry, Guoliang Chai, Yoshiko Murakami, Maha S. Zaki, Joseph G. Gleeson, Thi Tuyet Mai Nguyen, Tyler Reimschisel, Michael Parker, Justine Rousseau
Publikováno v:
The American Journal of Human Genetics. 101:856-865
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes
Autor:
Valérie Désilets, Hélène Decaluwe, F. Rypens, Victor Kokta, Françoise Le Deist, Dorothée Dal Soglio, Michel Duval, Christian Lachance, Marlène Lemire-Girard, Guillermo Pacheco-Cuellar, Philippe M. Campeau, Julie Gauthier, Elie Haddad
Publikováno v:
Journal of Bone and Mineral Research. 32:1853-1859
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotype
Autor:
Taila Hartley, Thi-Tuyet-Mai Nguyen, Jacek Majewski, Anik St-Denis, Philippe M. Campeau, David A. Dyment, Taroh Kinoshita, Françoise Le Deist, Devon L. Johnstone, Yoshiko Murakami, Asif Doja, Claire Goldsmith, Martine Tétreault, Justin D. Wagner, Kym M. Boycott, Kristin D. Kernohan, Dennis E. Bulman, Lijia Huang
Publikováno v:
Human Molecular Genetics. 26:1706-1715
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutati
Autor:
Simon Edvardson, Anik St-Denis, Philippe M. Campeau, Orly Elpeleg, Yenan T. Bryceson, Yoshiko Murakami, Bassam Abu-Libdeh, Thi Tuyet Mai Nguyen, Françoise Le Deist, Avraham Shaag, Maher Shahrour, Nadira Damseh, Taroh Kinoshita
Publikováno v:
Journal of Medical Genetics. 54:196-201
Background Of our 1400 exome-studied patients, 67% originate from consanguineous families. ∼80% suffer from variable degree of intellectual disability (ID). The search for disease causing genes using homozygosity mapping was progressing slowly unti
Autor:
Panojot Bifsha, Sara Civini, Francesco M. Marincola, Consiglia Pacelli, Ping Jin, Isabelle Louis, Basma Benabdhalla, Renée Bazin, Mame Massar Dieng, Christian Beauséjour, William Lemieux, Florina Moldovan, Louis-Eric Trudeau, Elie Haddad, Natacha Patey, David F. Stroncek, Françoise Le Deist, Charlotte Zaouter, Silvia Selleri
Publikováno v:
Oncotarget
Human mesenchymal stromal cells (MSC) have been shown to dampen immune response and promote tissue repair, but the underlying mechanisms are still under investigation. Herein, we demonstrate that umbilical cord-derived MSC (UC-MSC) alter the phenotyp
Publikováno v:
Primary Immunodeficiency Diseases: A Molecular And Genetic Approach.
Externí odkaz:
https://doi.org/10.1093/oso/9780195147742.003.0024
Autor:
Françoise Le Deist
Publikováno v:
Archives des Maladies Professionnelles et de l'Environnement. 81:607
Autor:
Miles D. Thompson, Alejandro D. Iglesias, Anik St-Denis, Philippe M. Campeau, Stephanie C. Laniewski, Julie M. Jones, Denise L. Perry, Justine Rousseau, Diane Masser-Frye, Marilyn C. Jones, Nissan V. Baratang, Angela E. Scheuerle, Françoise Le Deist, Thi Tuyet Mai Nguyen, Kristen Wigby, Ryan J. Taft, Jill A. Rosenfeld, Taroh Kinoshita, Yoshiko Murakami
Publikováno v:
American journal of human genetics, vol 103, iss 4
Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result ofadvances in whole-exome sequencing (WES) and whole-genome sequencing (WGS). IGDs cause a series of overlapping phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cc99f1405a856177b762b313a294b79
https://europepmc.org/articles/PMC6174287/
https://europepmc.org/articles/PMC6174287/