Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Yvan Herenger"'
Autor:
Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi
Externí odkaz:
https://doaj.org/article/47a113198d5649e88315ddec99f2067f
Autor:
Estelle Colin, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Hana Safraou, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Charlotte Poë, Victor Couturier, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Christophe Philippe, Bekim Sadikovic, Christel Thauvin-Robinet, Laurence Faivre, Jean-François Deleuze, Antonio Vitobello
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of individuals with heterogeneous ne
Externí odkaz:
https://doaj.org/article/dc232e817b8e4d02a082ed5b52095a4f
Autor:
Yvan Herenger, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit no
Externí odkaz:
https://doaj.org/article/3a075c12419b4a37b31397801c02bc73
Autor:
Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
Publikováno v:
Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142
Chromatinopathy; Syndromic neurodevelopmental disorder; Syndromic obesity Cromatinopatia; Trastorn sindròmic del neurodesenvolupament; Obesitat sindròmica Cromatinopatía; Trastorno sindrómico del neurodesarrollo; Obesidad sindrómica Purpose Prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8e
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8e
Autor:
Marie-France Portnoï, Alexandre Reymond, Sandra Chantot-Bastaraud, Giuliana Giannuzzi, Eleonora Porcu, Yvan Herenger, Flavie Ader, Tony Yammine, Patrick Edery, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Laurence Faivre, Alice Masurel-Paulet, Nathalie Marle, Kévin Uguen, Claire Bardel, Julia Lauer Zillhardt, Alistair T. Pagnamenta, Nicolas Chatron, Jenny C. Taylor, Stéphanie Valence, Andrew O.M. Wilkie, Solveig Heide, Emilie Chopin, Fabienne Prieur, Nora Chelloug, Christèle Dubourg, Marlène Rio, Eduardo Calpena, Zohra-Lydia Bellil, Arthur Sorlin, Laurence Lohmann, Sylvie Jaillard, Alexandra Afenjar, Corinne Metay, Jean-Pierre Siffroi, Damien Sanlaville, Marie-Pierre Cordier, Boris Keren, Françoise Girard, Caroline Schluth-Bolard, Joris Andrieux, Samantha J. L. Knight, Reza Maroofian, James Lespinasse, Michèle Mathieu-Dramard, Patrick Callier
The rise of pangenomic molecular assays allowed uncovering complex rearrangements named chromoanagenesis that were hypothesized to result from catastrophic shattering events. Constitutional cases have typically been reported individually preventing i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbb06baaefddfcce5f3b63fb41a59581
https://doi.org/10.1101/2020.07.17.206771
https://doi.org/10.1101/2020.07.17.206771
Publikováno v:
Neurology: Genetics
Autor:
Jean Muller, Amélie Piton, Yvan Herenger, Hélène Dollfus, Véronique Geoffroy, Corinne Stoetzel, Arnaud Kress
Publikováno v:
Bioinformatics
Bioinformatics, 2018, 34 (20), pp.3572-3574. ⟨10.1093/bioinformatics/bty304⟩
Bioinformatics, 2018, 34 (20), pp.3572-3574. ⟨10.1093/bioinformatics/bty304⟩
Summary Structural Variations (SV) are a major source of variability in the human genome that shaped its actual structure during evolution. Moreover, many human diseases are caused by SV, highlighting the need to accurately detect those genomic event
Autor:
Samia Pichard, Juliette Bouchereau, Jeremy Pasco, Emmanuelle Maes, Hélène Ogier de Baulny, Manuel Schiff, Yvan Herenger, Laurent François
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit no
Publikováno v:
Neurology Genetics. 6:e458
Congenital myopathies (CMs) are a group of rare inherited myopathies most commonly presenting in infancy with hypotonia and weakness. They have been classified on the basis of distinctive myopathologic features. Mutations in more than 25 genes can ca
Autor:
Sophie Scheidecker, Valérie Pelletier, Michel Fischbach, Anne de Saint Martin, Elise Schaefer, Jean-Michel Clavert, Yvan Herenger, Joelle Terzic, Yves Alembik, Hélène Dollfus, Marie-Cécile Manière, Corinne Stoetzel, Dominique Christmann
Publikováno v:
European Journal of Medical Genetics. 58:479-487
Schinzel–Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnor