Kết quả tìm kiếm - Sébastien Küry

Tinh chỉnh kết quả
  1. 1
    Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis

    Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis Bằng Frédéric Ebstein, Sébastien Küry, Jonas Johannes Papendorf, Elke Krüger

    Được phát hành 2021
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  2. 2
    An update on mutations of the<i>SLC39A4</i>gene in acrodermatitis enteropathica

    An update on mutations of the<i>SLC39A4</i>gene in acrodermatitis enteropathica Bằng Sébastien Schmitt, Sébastien Küry, Mathilde Giraud, Brigitte Dréno, Monia Kharfi, Stéphane Bézieau

    Được phát hành 2009
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  3. 3
    A Novel Zinc-regulated Human Zinc Transporter, hZTL1, Is Localized to the Enterocyte Apical Membrane

    A Novel Zinc-regulated Human Zinc Transporter, hZTL1, Is Localized to the Enterocyte Apical Membrane Bằng Ruth A. Cragg, Graham Christie, Siôn R. Phillips, Rachel M. Russi, Sébastien Küry, John C. Mathers, Peter M. Taylor, Dianne Ford

    Được phát hành 2002
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  4. 4
    Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC

    Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC Bằng Ann Katrin Sauer, Stefanie Pfaender, Simone Hagmeyer, Laura Tarana, Ann-Kathrin Mattes, Franziska Briel, Sébastien Küry, Tobias M. Boeckers, Andreas M. Grabrucker

    Được phát hành 2017
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  5. 5
    Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

    Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study Bằng Sébastien Küry, Bruno Buecher, Sébastien Robiou-du-Pont, Catherine Scoul, Hélène Loe Colman, Tanguy Le Neel, Claire Le Houérou, Roger Faroux, Jean Ollivry, Bernard Lafraise, Louis-Dominique Chupin, Véronique Sébille, Stéphane Bézieau

    Được phát hành 2008
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  6. 6
    Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

    Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 Bằng Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan, Ola H. Gebril, Aziz Mhanni, Albert E. Chudley, David Redl, Wen Qin, Sarah Hampson, Sébastien Küry, Martine Tétreault, Erik G. Puffenberger, James N. Scott, Stéphane Bézieau, André Reis, Steffen Uebe, Johannes Schumacher, Robert A. Hegele, D. Ross McLeod, Marina Gálvez‐Peralta, Jacek Majewski, V. Ramaekers, Daniel W. Nebert, A. Micheil Innes, Jillian S. Parboosingh, Rami Abou Jamra

    Được phát hành 2015
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  7. 7
    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive Bằng Mari Tokita, Alicia Braxton, Yunru Shao, Andrea M. Lewis, Marie Vincent, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Xénia Latypova, Stéphane Bézieau, Pengfei Liu, Connie S. Motter, Catherine Ward Melver, Nathaniel H. Robin, Elena Infante, Marianne McGuire, Areeg El‐Gharbawy, Rebecca O. Littlejohn, Scott D. McLean, Weimin Bi, Carlos A. Bacino, Seema R. Lalani, Daryl A. Scott, Christine M. Eng, Yaping Yang, Christian P. Schaaf, Magdalena Walkiewicz

    Được phát hành 2016
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  8. 8
    Separating the effects of early and later life adiposity on colorectal cancer risk: a Mendelian randomization study

    Separating the effects of early and later life adiposity on colorectal cancer risk: a Mendelian randomization study Bằng Nikos Papadimitriou, Caroline J. Bull, Mazda Jenab, David J. Hughes, Joshua A. Bell, Eleanor Sanderson, Nicholas J. Timpson, George Davey Smith, Demetrius Albanes, Peter T. Campbell, Sébastien Küry, Loı̈c Le Marchand, Cornelia M. Ulrich, Kala Visvanathan, Jane C. Figueiredo, Polly A. Newcomb, Rish K. Pai, Ulrike Peters, Konstantinos K. Tsilidis, Jolanda M.A. Boer, Emma E. Vincent, Daniela Mariosa, Marc J. Gunter, Tom G. Richardson, Neil Murphy

    Được phát hành 2023
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  9. 9
    Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

    Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis Bằng Sandra Mercier, Sébastien Küry, Gasnat Shaboodien, Darren T. Houniet, Nonhlanhla P. Khumalo, Chantal Bou‐Hanna, Nathalie Bodak, Valérie Cormier‐Daire, Albert David, Laurence Faivre, Dominique Figarella‐Branger, Romain K. Gherardi, Elise Glen, Antoine Hamel, Christian Laboisse, Cédric Le Caignec, Pierre Lindenbaum, Armelle Magot, Arnold Münnich, Jean‐Marie Mussini, Komala Pillay, Thahira Rahman, Richard Redon, Emmanuelle Salort‐Campana, Mauro Santibanez‐Koref, Christel Thauvin, S. Barbarot, Bernard Keavney, Stéphane Bézieau, Bongani M. Mayosi

    Được phát hành 2013
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  10. 10
    Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

    Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome Bằng M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas, Marietta M. de Guzman, Lisa R. Forbes, Iván K. Chinn, Emily M. Mace, Tiphanie P. Vogel, Alexandre F. Carisey, Felipe Benavides, Zeynep Coban‐Akdemir, Richard A. Gibbs, Shalini N. Jhangiani, Donna M. Muzny, Claudia M.B. Carvalho, Deborah Schady, Mahim Jain, Jill A. Rosenfeld, Lisa Emrick, Richard A. Lewis, Brendan Lee, Barbara A. Zieba, Sébastien Küry, Elke Krüger, James R. Lupski, Bret L. Bostwick, Jordan S. Orange

    Được phát hành 2018
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  11. 11
    A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

    A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants Bằng Evropi Τheodoratou, Harry Campbell, Albert Tenesa, Richard S. Houlston, Emily L. Webb, Steven Lubbe, Peter Broderick, Steven Gallinger, E M Croitoru, Mark A. Jenkins, Aung Ko Win, Sean P. Cleary, Thibaud Koessler, Paul D.P. Pharoah, Sébastien Küry, Stéphane Bézieau, Bruno Buecher, Nathan A. Ellis, Paolo Peterlongo, Kenneth Offit, Lauri A. Aaltonen, Susa Enholm, Annika Lindblom, X-L Zhou, Ian Tomlinson, Vı́ctor Moreno, Ignacio Blanco, Gabriel Capellà, Rebecca A. Barnetson, Mary Porteous, Malcolm G. Dunlop, Susan M. Farrington

    Được phát hành 2010
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  12. 12
    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability

    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability Bằng Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh Joss, Sally Davies, Robert Roger Lebel, Alex Henderson, Christian P. Schaaf, Haley Streff, Yaping Yang, Vani Jain, Nodoka Chida, Xénia Latypova, Cédric Le Caignec, Benjamin Cogné, Sandra Mercier, Marie Vincent, Estelle Colin, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Amélie Piton, Christian Dina, Audrey Donnart, Pierre Lindenbaum, Éric Charpentier, Richard Redon, Kenji Iemura, Masanori Ikeda, Kozo Tanaka, Stéphane Bézieau

    Được phát hành 2016
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  13. 13
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... Bằng Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Bréhéret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, X. Balguérie, S. Barbarot, Geneviève Baujat, Tawfeg Ben‐Omran, A.‐C. Bursztejn, Virginie Carmignac, Alexandre Datta, A. Delignières, Laurence Faivre, Betty Gardie, Jean‐Louis Guéant, Paul Kuentz, Marion Lenglet, Marie‐Cécile Nassogne, V. Ramaekers, Rhonda E. Schnur, Yue Si, Erin Torti, Julien Thévenon, P. Vabres, Lionel Van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, François Feillet, Bertrand Isidor

    Được phát hành 2019
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  14. 14
    Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

    Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons Bằng Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Surajit Sahu, Fabienne Schaller, Arthur Loubat, Léonard Hérault, Stéphane Gaillard, Emilie Pallesi‐Pocachard, Aurélie Montheil, Andreas Bosio, Jill A. Rosenfeld, Eva Hudson, Kristin Lindstrom, Saadet Mercimek‐Andrews, Lauren Jeffries, Arie van Haeringen, Olivier Vanakker, Audrey Van Hecke, Dina Amrom, Sébastien Küry, Chana Ratner, Reena Jethva, Candace Gamble, Bernard Jacq, Laurent Fasano, Gabriel Santpere, Belén Lorente-Galdós, Nenad Šestan, A. Gélot, Sylvie Giacuzz, Sandra Goebbels, Alfonso Represa, Carlos Cardoso, Harold Cremer, Antoine de Chevigny

    Được phát hành 2021
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  15. 15
    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Bằng Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark A. Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Wu‐Lin Charng, Margaret Drummond‐Borg, Mohammad K. Eldomery, Ayman W. El‐Hattab, Mohammed A. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, R Myers, Gregory M. Cooper, Kerstin Kutsche

    Được phát hành 2016
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  16. 16
    Mendelian randomization study of height and risk of colorectal cancer

    Mendelian randomization study of height and risk of colorectal cancer Bằng Aaron P. Thrift, Jian Gong, U. Peters, Jenny Chang‐Claude, Anja Rudolph, Martha L. Slattery, Andrew T. Chan, Tõnu Esko, Andrew R. Wood, Jian Yang, S. Vedantam, S. Gustafsson, Tune H. Pers, J. A. Baron, Stéphane Bézieau, Sébastien Küry, Shuji Ogino, Sonja I. Berndt, Graham Casey, Robert W. Haile, Mengmeng Du, Tabitha A. Harrison, M. Thornquist, David Duggan, Loı̈c Le Marchand, Mathieu Lemire, N. M. Lindor, Daniela Seminara, Mingyang Song, Steven Thibodeau, Michelle Cotterchio, Aung Ko Win, Mark A. Jenkins, John L. Hopper, Cornelia M. Ulrich, John D. Potter, PA Newcomb, Robert E. Schoen, Michael Hoffmeister, Hermann Brenner, Emily White, Li Hsu, P. Campbell

    Được phát hành 2015
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  17. 17
    Lessons learned from additional research analyses of unsolved clinical exome cases

    Lessons learned from additional research analyses of unsolved clinical exome cases Bằng 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

    Được phát hành 2017
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  18. 18
    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder Bằng Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke, Simon Edvardson, Estelle Colin, Alexander P.A. Stegmann, Erica H. Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah‐Politi, Tim M. Strom, Jill A. Rosenfeld, Yaping Yang, Jennifer E. Posey, LaDonna Immken, Nelly Jouayed Oundjian, Katherine L. Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda Schieving, Ana M. Claasen, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey, Han G. Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R. Lupski, Hans‐Jürgen Kreienkamp

    Được phát hành 2017
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  19. 19
    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Bằng Médéric Jeanne, Hélène Demory, Aubin Moutal, Marie‐Laure Vuillaume, Sophie Blesson, Rose‐Anne Thépault, Sylviane Marouillat, Judith Halewa, Saskia M. Maas, M. Mahdi Motazacker, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Avgi Andreou, Helene Cox, Julie A. Vogt, Jason Laufman, Natella Kostandyan, Davit Babikyan, Miroslava Hančárová, Šárka Bendová, Zdeněk Sedláček, Kimberly A. Aldinger, Elliott H. Sherr, Emanuela Argilli, Eleina England, Séverine Audebert‐Bellanger, Dominique Bonneau, Estelle Colin, Anne‐Sophie Denommé‐Pichon, Brigitte Gilbert‐Dussardier, Bertrand Isidor, Sébastien Küry, Sylvie Odent, Richard Redon, Rajesh Khanna, William B. Dobyns, Stéphane Bézieau, Jérôme Honnorat, Bernhard Lohkamp, Annick Toutain, Frédéric Laumonnier

    Được phát hành 2021
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  20. 20
    Role of CAMK2D in neurodevelopment and associated conditions

    Role of CAMK2D in neurodevelopment and associated conditions Bằng Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn, Martina Proietti Onori, Jennifer Humberson, Matthew Thomas, Caitlin Barnes, Carlos E. Prada, K. Nicole Weaver, Thomas D. Ryan, Oana Caluseriu, Jennifer Conway, Emily Calamaro, Chin‐To Fong, Wim Wuyts, Marije Meuwissen, Eva Hordijk, Carsten N. Jonkers, Lucas A. Anderson, Berfin Yuseinova, Sarah Polonia, Diane Beysen, Zornitza Stark, Elena Savva, Cathryn Poulton, F. Ellis McKenzie, Elizabeth Bhoj, Caleb Bupp, Stéphane Bézieau, Sandra Mercier, Amy Blevins, Ingrid M. Wentzensen, Fan Xia, Jill A. Rosenfeld, Tzung‐Chien Hsieh, Peter Krawitz, Miriam Elbracht, Danielle Veenma, Howard Schulman, Margaret M. Stratton, Sébastien Küry, Geeske M. van Woerden

    Được phát hành 2024
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