Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Aurélien, Trimouille"'
Autor:
Didier Lacombe, Julien Van-Gils, Marine Lebrun, Aurélien Trimouille, Vincent Michaud, Sara Cabet, Jean-François Chateil, Jean-Michel Pedespan, Claire Bar, Gaetan Lesca
Publikováno v:
Brain and Development. 44:567-570
Autor:
Aurélien Trimouille, Naïg Gueguen, C. Rouzier, Pascal Reynier, Christophe Verny, Patrizia Amati-Bonneau, Dominique Bonneau, Marie Laure Martin-Negrier, Claude Jardel, Samira Ait-El-Mkadem Saadi, Magalie Barth, Julien Cassereau, Franck Letournel, David Goudenège, Céline Bris, Benoit Rucheton, Estelle Colin, Magot Armelle, Stéphane Allouche, Sylvie Bannwarth, Véronique Paquis-Flucklinger, Abdel Slama, Yann Péréon, Valérie Desquiret-Dumas, Vincent Procaccio, Guy Lenaers, Pauline Gaignard, Marco Spinazzi
Publikováno v:
Genetics in Medicine. 23:1769-1778
Diseases caused by defects in mitochondrial DNA (mtDNA) maintenance machinery, leading to mtDNA deletions, form a specific group of disorders. However, mtDNA deletions also appear during aging, interfering with those resulting from mitochondrial diso
Autor:
Angèle Tingaud-Sequeira, Cédric Delevoye, Vincent Michaud, Anne Bauters, Perrine Pennamen, Benoit Arveiler, Nguyen Van Duong Béatrice, V. Coste, Linh Le, Eulalie Lasseaux, Claudio Plaisant, Fanny Morice Picard, Modibo Diallo, Aurélien Trimouille, Jean-Claude Bordet, Bruno Delobel, Mathieu Fiore, Didier Lacombe, Michael S. Marks
Publikováno v:
Genet Med
PURPOSE. Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in 10 different genes have been involved in HPS. However, some patients lack variants in these genes. We
Autor:
Aurélien Trimouille, Jeanne Amiel, Florence Riccardi, Catherine Badens, Vincent Michaud, Margot Grisval, Alexandre Astier, Svetlana Gorokhova, Sabine Sigaudy, Arnaud Maillard, Laurence Faivre, Christopher T. Gordon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (10), pp.2003-2004. ⟨10.1038/s41436-021-01208-8⟩
Genetics in Medicine, Nature Publishing Group, 2021, 23 (10), pp.2003-2004. ⟨10.1038/s41436-021-01208-8⟩
Autor:
Florent Marguet, Caroline Rooryck-Thambo, Marie-Laure Martin-Negrier, Eulalie Lasseaux, Odile Boespflug-Tanguy, Aurélien Trimouille, Fanny Sauvestre, Fanny Pelluard, Sophie Naudion, Annie Laquerrière, Benoit Arveiler
Publikováno v:
Morphologie. 103:70-71
Les variants pathogenes bi-alleliques des genes de la famille EIF2B ont ete rapportes comme responsables de leucodystrophies identifiees sous le terme de syndrome CACH/VWM, pour childhood ataxia with central nervous system hypomyelination/vanishing w
Autor:
Perrine Pennamen, Jean-Thomas Perez, Marie Rouanet, Emilie Obre, Clémence Bailly-Scappaticci, Aurélien Trimouille, Fabienne Clot, Alexandra Durr, Guilhem Solé, Stéphane Mathis, Cyril Goizet, Guillaume Banneau, Claire Delleci, Giovanni Stevanin
Publikováno v:
Clinical Neurology and Neurosurgery. 166:1-3
Autor:
Aurélien Trimouille, Jean-Madeleine de Sainte Agathe, Eulalie Lasseaux, Didier Lacombe, Benoit Arveiler, Virginie Raclet, Jerome Aupy, Laetitia Gaston, Claudio Plaisant, Julien Van-Gils, Clémence Pfirrmann
Publikováno v:
European Journal of Medical Genetics. 63:103942
Dyment et al. (2019) recently reported eight novel patients with intellectual disability and epilepsy associated with heterozygous de novo missense variants in TRPM3. We report a novel patient with the same recurrent de novo missense of TRPM3 found i
Autor:
Cyril Goizet, L. Prudhomme, Jean-François Chateil, Claire Delleci, Aurélien Trimouille, J. Van Gils, O. Prodhomme
Publikováno v:
European Journal of Medical Genetics. 63:103815
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors. Classical skeletal abnormalities encompass sphenoid wing dysplasia, congenital bowing o
Autor:
Aurélien Trimouille, Julie Bouron, Perrine Pennamen, Didier Lacombe, Benoit Arveiler, Gwenaelle André, Caroline Rooryck-Thambo, Patricia Fergelot, Angèle Tingaud-Sequeira
Publikováno v:
Morphologie. 102:141
Introduction/Objectifs L’etude de l’architecture tridimensionnelle de la chromatine par la technologie de Hi-C, derivee de la Chromosome Conformation Capture (3C), a mis en lumiere l’existence de domaines chromatiniens denommes topologically as