Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Guillaume Banneau"'
Autor:
Rémy Nicolle, Mira Ayadi, Anne Gomez-Brouchet, Lucile Armenoult, Guillaume Banneau, Nabila Elarouci, Matthias Tallegas, Anne-Valérie Decouvelaere, Sébastien Aubert, Françoise Rédini, Béatrice Marie, Corinne Labit-Bouvier, Nicolas Reina, Marie Karanian, Louis-Romée le Nail, Philippe Anract, François Gouin, Frédérique Larousserie, Aurélien de Reyniès, Gonzague de Pinieux
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Chondrosarcomas are heterogenous tumours of the bone cartilage and have highly variable prognoses. Here, the authors perform a multi-omics analysis, revealing molecular features that can stratify clinical outcomes.
Externí odkaz:
https://doaj.org/article/9a7f2546f61d40c9b55be3f258fbc8df
Autor:
Audrey Rouault, Guillaume Banneau, Gaëtan Macgrogan, Natalie Jones, Nabila Elarouci, Emmanuelle Barouk-Simonet, Laurence Venat, Isabelle Coupier, Eric Letouzé, Aurélien de Reyniès, Françoise Bonnet, Richard Iggo, Nicolas Sévenet, Michel Longy
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e52079 (2012)
IntroductionGermline BRCA1 or BRCA2 mutations account for 20-30% of familial clustering of breast cancer. The main indication for BRCA2 screening is currently the family history but the yield of mutations identified in patients selected this way is l
Externí odkaz:
https://doaj.org/article/2eb48b9506784ef49d11558558e0dc62
Publikováno v:
BioTechniques, Vol 52, Iss 3, Pp 196-197 (2012)
Externí odkaz:
https://doaj.org/article/fffe309171fc4057b11492aaf5f8e22d
Autor:
Armand Hocquel, Jean-Marie Ravel, Laetitia Lambert, Céline Bonnet, Guillaume Banneau, Bophara Kol, Laurène Tissier, Lucie Hopes, Mylène Meyer, Céline Dillier, Maud Michaud, Arnaud Lardin, Anne-Laure Kaminsky, Emmanuelle Schmitt, Liang Liao, François Zhu, Bronner Myriam, Carine Bossenmeyer-Pourié, Antoine Verger, Mathilde Renaud
Publikováno v:
neurogenetics. 23:241-255
Autor:
Livia Parodi, Mathieu Barbier, Maxime Jacoupy, Claire Pujol, François-Xavier Lejeune, Pauline Lallemant-Dudek, Typhaine Esteves, Maartje Pennings, Erik-Jan Kamsteeg, Marine Guillaud-Bataille, Guillaume Banneau, Giulia Coarelli, Badreddine Mohand Oumoussa, Matthew J. Fraidakis, Giovanni Stevanin, Christel Depienne, Bart van de Warrenburg, Alexis Brice, Alexandra Durr
Publikováno v:
Genetics in Medicine, 24, 11, pp. 2308-2317
Genetics in Medicine, 24, 2308-2317
Genetics in Medicine
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Genetics in Medicine, 24, 2308-2317
Genetics in Medicine
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Item does not contain fulltext PURPOSE: Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently discovered that missense variants in SPAST, which influ
Autor:
Jean-Marie Ravel, Maud Michaud, Solène Frismand, Salomé Puisieux, Guillaume Banneau, Jean-François Benoist, Laëtitia Lambert, Céline Bonnet, Mathilde Renaud
Publikováno v:
Parkinsonism & Related Disorders. 109:105310
Autor:
Julian Theuriet, Antoine Pegat, Pascal Leblanc, Sandra Vukusic, Cécile Cazeneuve, Stéphanie Millecamps, Guillaume Banneau, Marine Guillaud-Bataille, Emilien Bernard
Publikováno v:
Genes
Genes, MDPI, 2021, 12 (12), pp.1876. ⟨10.3390/genes12121876⟩
Genes, 2021, 12 (12), pp.1876. ⟨10.3390/genes12121876⟩
Genes, Vol 12, Iss 1876, p 1876 (2021)
Genes, MDPI, 2021, 12 (12), pp.1876. ⟨10.3390/genes12121876⟩
Genes, 2021, 12 (12), pp.1876. ⟨10.3390/genes12121876⟩
Genes, Vol 12, Iss 1876, p 1876 (2021)
Biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5). We report herein the case of a patient whose clinical symptoms began with progressive lower limb spasticity during childhood, and who secondly developed amyotrophic lateral s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::74b4e529025e71db958aa970b42135fd
https://hal.sorbonne-universite.fr/hal-03457266
https://hal.sorbonne-universite.fr/hal-03457266
Autor:
William Camu, Guillaume Banneau, Samia Ait Said, Eric LeGuern, Christel Depienne, Bophara Kol, Caroline Rooryck, Clarisse Scherer-Gagou, Giovanni Stevanin, Laurène Tissier, Perrine Pennamen, Bénédicte Héron, Cyril Goizet, Marine Guillaud-Bataille, Chloé Angelini
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (7), pp.1158-1163. ⟨10.1038/s41431-021-00847-4⟩
Eur J Hum Genet
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (7), pp.1158-1163. ⟨10.1038/s41431-021-00847-4⟩
Eur J Hum Genet
International audience; Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at ons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bbe3ec088b550d1f7d5f66c189a2649
https://hal.archives-ouvertes.fr/hal-03403700
https://hal.archives-ouvertes.fr/hal-03403700
Autor:
Marie Coutelier, Kristina Lidström, Malin Kvarnung, Rayomand Press, Rita Rodrigues, Jean-Philippe Azulay, Meriem Tazir, Giovanni Vazza, Sara Morais, Guillaume Banneau, Elena Pegoraro, Mélanie Papin, Giovanni Stevanin, José Leal Loureiro, Giulia Coarelli, Eric Le Guern, Alexandra Durr, Isabel Alonso, Alexis Brice, Jean-Loup Méreaux, Per Svenningsson, Daniel Nilsson, Frederic Taithe, Vincent Huin, Cyril Goizet, Rémi Valter, Cristina Firanescu, Martin Paucar, Livia Parodi
Publikováno v:
neurogenetics
neurogenetics, Springer Verlag, 2021, ⟨10.1007/s10048-020-00633-2⟩
Neurogenetics
neurogenetics, Springer Verlag, 2021, ⟨10.1007/s10048-020-00633-2⟩
Neurogenetics
Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. Many genes are involved. Among them, CAPN1, when mutated, is responsible for a complex inherited form of spastic paraplegia (SPG76). We report the largest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4c73d08a66e3f37f52d94303a83d33
https://hal.sorbonne-universite.fr/hal-03123626
https://hal.sorbonne-universite.fr/hal-03123626
Autor:
Leonidas Stefanis, Nicholas W. Wood, Eric LeGuern, Henry Houlden, Rabab Debs, Guillaume Banneau, Samia Ait Said, Maria Stamelou, John Tzartos, Thomas Zambelis, Thomas Bourinaris, George D. Vavougios, Clarisse Scherer-Gagou, Viorica Chelban, Yann Péréon, Marianthi Breza, Constantin Potagas, Georgios Koutsis, Theodoros Mavridis, Craig Blackstone, Jana Vandrovcova, Raul Juntas-Morales, Giovanni Stevanin, Laurène Tissier, Alkyoni Athanasiou-Fragkouli, Caterina Mariotti, Georgia Karadima, Jennifer Hirst, Jean Philippe Camdessanché, Bophara Kol, Stephanie Efthymiou, Chrisoula Kartanou, Jean-Médard Zola, Georgios Velonakis, Victoria G Martinez, Anna Heinzmann
Biallelic mutations in AP5Z1 are known to cause a rare, autosomal recessive, complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647)[1]. To date, only 11 SPG48 cases have been reported. The clinical spectrum of SPG48 is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a63488d0b427339b4b81cb45ae22e457