Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Audrey Schalk"'
Autor:
Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Estivalet, Frédéric Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Léveillard, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 7875 (2021)
The purpose of this work was to identify the gene defect underlying a relatively mild rod-cone dystrophy (RCD), lacking disease-causing variants in known genes implicated in inherited retinal disorders (IRD), and provide transcriptomic and immunoloca
Externí odkaz:
https://doaj.org/article/e1e9b2c5796a4f3aa2950899871dff96
Autor:
Philip Harrer, Audrey Schalk, Masaru Shimura, Sarah Baer, Nadège Calmels, Marie Aude Spitz, Marie‐Thérèse Abi Warde, Elise Schaefer, Volker M.Sc Kittke, Yasemin Dincer, Matias Wagner, Ivana Dzinovic, Riccardo Berutti, Tatsuharu Sato, Toshihiko Shirakawa, Yasushi Okazaki, Kei Murayama, Konrad Oexle, Holger Prokisch, Volker Mall, Ivo Melčák, Juliane Winkelmann, Michael Zech
Publikováno v:
Ann. Neurol. 93, 330-335 (2023)
Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear-pore complex (NPC) gene NUP62, involved in nucleo-cytoplasmic trafficking. By querying sequencing-datasets of patients with dystonia and/or Leigh(-like) syndromes,
Autor:
Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano, Houda Karmous‐Benailly, Charles Coutton, Véronique Satre, Françoise Devillard, Klaus Dieterich, Gaëlle Vieville, Paul Kuentz, Cédric le Caignec, Claire Beneteau, Bertrand Isidor, Mathilde Nizon, Patrick Callier, Valentine Marquet, Eric Bieth, Jonathan Lévy, Anne‐Claude Tabet, Stanislas Lyonnet, Geneviève Baujat, Marlène Rio, François Cartault, Sophie Scheidecker, Aurélie Gouronc, Audrey Schalk, Clémence Jacquin, Marta Spodenkiewicz, Chloé Angélini, Perrine Pennamen, Caroline Rooryck, Martine Doco‐Fenzy, Céline Poirsier
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 191(1)
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with growth delay, microceph
Autor:
Thomas Guignard, Audrey Schalk, Jean-Baptiste Gaillard, Hélène Dollfus, Tor Solli-Nowlan, Véronique Geoffroy, Arnaud Kress, Vincent Gatinois, Sophie Scheidecker, Jean Muller
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research, 2021, 49, ⟨10.1093/nar/gkab402⟩
Nucleic Acids Research, Oxford University Press, 2021, 49, ⟨10.1093/nar/gkab402⟩
Nucleic Acids Research, 2021, 49, ⟨10.1093/nar/gkab402⟩
Nucleic Acids Research, Oxford University Press, 2021, 49, ⟨10.1093/nar/gkab402⟩
With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount of genomic data including millions of small variants (SNV/indel) but also thousands of structural variations (SV) mainly from next-generation sequencing
Autor:
Steven B. Blanchard, Cécile Méjécase, Thierry Léveillard, Sandra Chantot-Bastaraud, Marion Neuillé, Christelle Michiels, Saddek Mohand-Said, Elise Orhan, Christina Zeitz, Juliette Wohlschlegel, Frédéric Blond, Audrey Schalk, Sébastien Augustin, Christel Condroyer, Amrit Estivalet, Lisa Emmenegger, Aline Antonio, Vanessa Démontant, Crystel Bonnet, José-Alain Sahel, Camille Andrieu, Isabelle Audo, Marine Foussard
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 15
International Journal of Molecular Sciences, 2021, 22 (15), pp.7875. ⟨10.3390/ijms22157875⟩
International Journal of Molecular Sciences, Vol 22, Iss 7875, p 7875 (2021)
Volume 22
Issue 15
International Journal of Molecular Sciences, 2021, 22 (15), pp.7875. ⟨10.3390/ijms22157875⟩
International Journal of Molecular Sciences, Vol 22, Iss 7875, p 7875 (2021)
The purpose of this work was to identify the gene defect underlying a relatively mild rod-cone dystrophy (RCD), lacking disease-causing variants in known genes implicated in inherited retinal disorders (IRD), and provide transcriptomic and immunoloca
Autor:
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Ray Louie, Brendan C Lanpher, Jennifer L Kemppainen, Micheil Innes, Frank Kooy, Marije Meuwissen, Alice Goldenberg, Francois Lecoquierre, Gabriella Vera, Karin E M Diderich, Beth Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F Hamdan, Jacques L Michaud, Ann J Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen van Gassen, Eva H Brilstra, Gina Itzikowitz, Emily O'Heir, Jake Allen, Kirsten A Donald, Bruce Richard Korf, Tammi Skelton, Michelle Thompson, Nathaniel H Robin, Natasha L Rudy, William B Dobyns, Kimberly Foss, Yuri Alexander Zarate, Katherine A Bosanko, Yves Alembik, Benjamin Durand, Frederic Tran Mau-them, Emmanuelle Ranza, Xavier Blanc, Stylianos E Antonarakis, Kirsty McWalter, Erin Torti, Francisca Millan, Amy Dameron, Mari Tokita, Michael T Zimmermann, Eric W Klee, Amelie Piton, Benedicte Gerard
Publikováno v:
Journal of medical genetics
Journal of medical genetics, 2021, ⟨10.1136/jmedgenet-2021-107751⟩
Journal of medical genetics, 2021, ⟨10.1136/jmedgenet-2021-107751⟩
BackgroundHigh-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD).MethodsThis study describes the molecular and clinical characterisation of 28 probands with NDD harbouring h
Autor:
Cathy Obringer, Audrey Schalk, Nadège Calmels, Jamel Chelly, Géraldine Greff, Hélène Dollfus, Nathalie Drouot, Vincent Laugel
Publikováno v:
European Journal of Human Genetics. 26:527-536
Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity. This rare disease is linked to disea