Zobrazeno 1 - 10
of 302
pro vyhledávání: '"Jean Muller"'
Autor:
Jean-Marie Ravel, Mathilde Renaud, Jean Muller, Aurélie Becker, Émeline Renard, Thomas Remen, Geneviève Lefort, Mylène Dexheimer, Philippe Jonveaux, Bruno Leheup, Céline Bonnet, Laëtitia Lambert
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-10 (2023)
Abstract Background Array-CGH is the first-tier genetic test both in pre- and postnatal developmental disorders worldwide. Variants of uncertain significance (VUS) represent around 10~15% of reported copy number variants (CNVs). Even though VUS reana
Externí odkaz:
https://doaj.org/article/5a850b090ac746dc8eb79d94d62ec71b
Autor:
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
The protein SLITRK2 plays an important role in synaptic communication. This study identifies X-linked SLITRK2 variants that underlie neurodevelopmental disorders by impairing excitatory synapses.
Externí odkaz:
https://doaj.org/article/939b1e803648458f978aa0c525329996
Autor:
Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 10, p 8729 (2023)
Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants
Externí odkaz:
https://doaj.org/article/2b873905703741e9b297d16106f54ccc
Autor:
Catherine Lejeune, Charley Robert-Viard, Nicolas Meunier-Beillard, Myriam Alice Borel, Léna Gourvès, Stéphanie Staraci, Anne-Laure Soilly, Francis Guillemin, Valerie Seror, Hamza Achit, Marion Bouctot, Marie-Laure Asensio, Anne-Sophie Briffaut, Christelle Delmas, Ange-Line Bruel, Alexia Benoit, Alban Simon, Bénédicte Gerard, Hamza Hadj Abdallah, Stanislas Lyonnet, Laurence Faivre, Christel Thauvin-Robinet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Jean Muller, Yannis Duffourd, Anne Boland, Jean-François Deleuze, Hélène Espérou, Christine Binquet, Hélène Dollfus
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Like other countries, France has invested in a national medical genomics program. Among the four pilot research studies, the DEFIDIAG project focuses on the use of whole genome sequencing (WGS) for patients with intellectual disability
Externí odkaz:
https://doaj.org/article/20632c85104a48d79a40c08ac9c4621f
Autor:
Jonathan Lawson, Moran N. Cabili, Giselle Kerry, Tiffany Boughtwood, Adrian Thorogood, Pinar Alper, Sarion R. Bowers, Rebecca R. Boyles, Anthony J. Brookes, Matthew Brush, Tony Burdett, Hayley Clissold, Stacey Donnelly, Stephanie O.M. Dyke, Mallory A. Freeberg, Melissa A. Haendel, Chihiro Hata, Petr Holub, Francis Jeanson, Aina Jene, Minae Kawashima, Shuichi Kawashima, Melissa Konopko, Irene Kyomugisha, Haoyuan Li, Mikael Linden, Laura Lyman Rodriguez, Mizuki Morita, Nicola Mulder, Jean Muller, Satoshi Nagaie, Jamal Nasir, Soichi Ogishima, Vivian Ota Wang, Laura D. Paglione, Ravi N. Pandya, Helen Parkinson, Anthony A. Philippakis, Fabian Prasser, Jordi Rambla, Kathy Reinold, Gregory A. Rushton, Andrea Saltzman, Gary Saunders, Heidi J. Sofia, John D. Spalding, Morris A. Swertz, Ilia Tulchinsky, Esther J. van Enckevort, Susheel Varma, Craig Voisin, Natsuko Yamamoto, Chisato Yamasaki, Lyndon Zass, Jaime M. Guidry Auvil, Tommi H. Nyrönen, Mélanie Courtot
Publikováno v:
Cell Genomics, Vol 1, Iss 2, Pp 100028- (2021)
Summary: Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants. Thus, care must be taken when they are proc
Externí odkaz:
https://doaj.org/article/f8726db3840b428bad60870042b49eab
Autor:
Laura Mauring, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Jean Muller
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however
Externí odkaz:
https://doaj.org/article/8327c7dd09394efcb6c906619fa01a79
Autor:
Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 7, Pp n/a-n/a (2020)
Abstract The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of patients with severe deafness and early‐onset cataracts as part of a neurologi
Externí odkaz:
https://doaj.org/article/84cd90f8c2f147a682d5ff88f7111dd9
Autor:
Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
Publikováno v:
Molecular Metabolism, Vol 13, Iss , Pp 1-9 (2018)
Objective: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exo
Externí odkaz:
https://doaj.org/article/31587e1c7e5942a9a6d20496894a49c3
Autor:
Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6410 (2021)
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In th
Externí odkaz:
https://doaj.org/article/496eccf7a4964da38f5a8e4346404eef
Publikováno v:
Genes, Vol 12, Iss 3, p 410 (2021)
Infertility is a global healthcare problem, which affects men and women equally. With the advance of genome-wide analysis, an increasing list of human genes involved in infertility is now available. In order to evaluate the diagnostic interest to ana
Externí odkaz:
https://doaj.org/article/2cfa3e53e6cc4f09809781a3fcef2fa7