Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Yannis Duffourd"'
Autor:
Geoffroy Delplancq, Alexandre Vasiljevic, Antonio Vitobello, Jean Christophe Eicher, Gilles Millat, Paul Kuentz, Christophe Philippe, Georges Tarris, Martin Chevarin, Yannis Duffourd, Fara T. Harizay, Virginie Carmignac, Christel Thauvin-Robinet, Sophie Nambot, Arthur Sorlin, Laurence Faivre, Thierry Rousseau, Charlotte Denis, Bouchra Khallouk, Sylvie Falcon-Eicher
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:129-135
PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc
Autor:
Adelaide Rega, Y. T. Hu, Daniel Helbling, Sebastien Moutton, Anna C.E. Hurst, Qing Kenneth Wang, Grazia M.S. Mancini, Samantha A. Schrier Vergano, Chengqi Xu, Lina Liang, Xia Li, Bertrand Isidor, Christel Thauvin-Robinet, Laurence Faivre, Sophie Nambot, Christina Hung, Benjamin Cogné, Olaf Bodamer, Julien Thevenon, Leon S. Dure, David P. Bick, Yannis Duffourd, Bénédicte Gérard, Stéphane Bézieau, Antonio Vitobello, Qiuyun Chen, Anne de Saint-Martin, Daphné Lehalle
Publikováno v:
Human Molecular Genetics, 28(17), 2937-2951. Oxford University Press
Hum Mol Genet
Hum Mol Genet
KCNMA1 encodes the large-conductance Ca2+- and voltage-activated K+ (BK) potassium channel α-subunit, and pathogenic gain-of-function variants in this gene have been associated with a dominant form of generalized epilepsy and paroxysmal dyskinesia.
Autor:
C. Thauvin-Robinet, Nada Houcinat, Daphné Lehalle, A Vital, Laurence Faivre, Agnès Rötig, Jaak Jaeken, Fan Xia, Matthew N. Bainbridge, Marlène Rio, Sophie Nambot, Jean-Baptiste Rivière, Paul Kuentz, Julien Thevenon, D Gavrilov, Cyril Goizet, Ange-Line Bruel, Fanny Mochel, N Niu, Arthur L. Beaudet, Yannis Duffourd
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2017, 〈www.wiley.com/〉. 〈10.1111/cge.12985〉
www.wiley.com/
Clinical Genetics, Wiley, 2017, 92 (2), pp.188-198. ⟨10.1111/cge.12985⟩
Clinical Genetics, Wiley, 2017, 〈www.wiley.com/〉. 〈10.1111/cge.12985〉
www.wiley.com/
Clinical Genetics, Wiley, 2017, 92 (2), pp.188-198. ⟨10.1111/cge.12985⟩
Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan
Autor:
Melissa L. Crenshaw, Karin M. Dent, Ange Line Bruel, Mirna Assoum, Ingrid M. Wentzensen, Antonio Vitobello, Laurence Faivre, Kirsty McWalter, Paul Kuentz, Julian Delanne, Christel Thauvin-Robinet, Julien Thevenon, Yannis Duffourd
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(4)
In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual disability (ARID) in a large consanguineous family comprising seven affected individuals with moderate ID and short stature. Since then, no other cases of KIAA1033 variants
Autor:
Pierre Rustin, Emilie Carme, camille lemattre, Yannis Duffourd, Vincent Meyer, Patricia Blanchet, François Rivier, Jean-Baptiste Rivière, Anne Boland, Thomas Guignard, Paule Bénit, Emmanuelle Haquet, Julien Thevenon, Elodie Sanchez, David Geneviève, Marion Imbert-Bouteille, Jean-François Deleuze, Doris Lechner, Agathe Roubertie, Frédéric Tran Mau-Them, Constance Wells, Florence Molinari, Vincent Gatinois
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
Eur J Hum Genet
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
Eur J Hum Genet
International audience; Early infantile epileptic encephalopathy (EIEE) is a heterogeneous group of severe forms of age-related developmental and epileptic encephalopathies with onset during the first weeks or months of life. The interictal electroen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::857005df474d670ce35cd16284e2772d
https://hal.archives-ouvertes.fr/hal-02180849/document
https://hal.archives-ouvertes.fr/hal-02180849/document
Autor:
Alice Masurel, Yannis Duffourd, Bénédicte Gérard, Christiane Zweier, Thomas Arnesen, Bernt Popp, Melissa P. Wasserstein, Cyril Mignot, Nicholas AhMew, Laetitia Lampert, Boris Keren, Jean Baptiste Rivière, Caroline Nava, Laurence Faivre, Chloé Saunier, Marjon van Slegtenhorst, Paul Kuentz, Christel Thauvin-Robinet, Marina Blenski, Svein Isungset Støve, Paula Goldenberg, Amélie Piton, André Reis, Julien Thevenon, Frédéric Huet, Ange Line Bruel, Grazia M.S. Mancini, Kamer Tezcan, Charlotte de Bie, Bruno Leheup, Bertrand Isidor
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
International audience; N-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA h
Autor:
Ludmila Francescatto, Catherine Guettier-Bouttier, Jean-Baptiste Rivière, Evelyne Marinier, Olivier Goulet, Philippe Gauchez, Alexandre Fabre, Yves Rimet, Jean-Pierre Hugot, Aurélie Bourchany, Laurence Faivre, Catherine Badens, Arnauld Delarue, Emmanuel Gonzales, Frédéric Huet, Raphaelle Maudinas, Arnaud Blanchard, Nicholas Katsanis, Céline Brochier-Armanet, Christel Thauvin-Robinet, Sabine Sigaudy, Julien Thevenon, Caroline Lacoste, Karin Mazodier, Ange-Line Bruel, Emmanuelle Ecochard-Dugelay, Nicolas Lévy, Cécile de Leusse, Mina Komuta, Géraldine Hery, Yannis Duffourd, Jacques Sarles, Bertrand Roquelaure, Xavier Stéphenne, Patrice Bourgeois, Perciliz L. Tan, Clothilde Esteve
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
The American Journal of Human Genetics
The American Journal of Human Genetics, 2018, 102 (3), pp.364-374. 〈10.1016/j.ajhg.2018.01.009〉
American Journal of Human Genetics, Vol. 102, no. 3, p. 364-374 (2018)
American Journal of Human Genetics, 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
The American Journal of Human Genetics
The American Journal of Human Genetics, 2018, 102 (3), pp.364-374. 〈10.1016/j.ajhg.2018.01.009〉
American Journal of Human Genetics, Vol. 102, no. 3, p. 364-374 (2018)
International audience; Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with chole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63311494302c5d98ba5326b43b7b6501
https://amu.hal.science/hal-01721495
https://amu.hal.science/hal-01721495
Autor:
Christel Thauvin, Marie Hélène Aubriot-Lorton, Nadège Gigot, Nathalie Marle, Bernard Aral, Laurence Duplomb, Alain Sarasin, Julien Thevenon, Valeria Naim, Jean-Baptiste Rivière, Jean Benoît Courcet, Pierre Vabres, Jamal Eddin Abrid, Mariam Tajir, Laurence Faivre, Emilie Courcet-Degrolard, Siham Chafai Elalaoui, Laurent Martin, Abdelaziz Sefiani, Yannis Duffourd
Publikováno v:
European Journal of Human Genetics. 23:957-962
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-
Autor:
Yannis Duffourd, Nolwenn Jean-Marçais, Charlotte Poe, Julien Thevenon, Geneviève Pierquin, P. Callier, B. Demeer, Mathilde Lefebvre, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Laurence Faivre, Thibaud Jouan, Florence Petit, Alain Verloes, Judith St-Onge
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2017, 〈http://onlinelibrary.wiley.com/doi/10.1111/cge.12918/full〉. 〈10.1111/cge.12918〉
Clinical Genetics, 2017, ⟨10.1111/cge.12918⟩
Clinical Genetics, Wiley, 2017, ⟨10.1111/cge.12918⟩
Clinical Genetics, Wiley, 2017, 〈http://onlinelibrary.wiley.com/doi/10.1111/cge.12918/full〉. 〈10.1111/cge.12918〉
Clinical Genetics, 2017, ⟨10.1111/cge.12918⟩
Clinical Genetics, Wiley, 2017, ⟨10.1111/cge.12918⟩
International audience; Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abf64b311f043f3f9969ff5915aafb01
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01477534
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01477534
Autor:
Marie Eliade, Jeremy Skrzypski, Amandine Baurand, Caroline Jacquot, Geoffrey Bertolone, Catherine Loustalot, Charles Coutant, France Guy, Pierre Fumoleau, Yannis Duffourd, Laurent Arnould, Alexandra Delignette, Marie-Martine Padéano, Côme Lepage, Géraldine Raichon-Patru, Axelle Boudrant, Marie-Christine Bône-Lépinoy, Anne-Laure Villing, Aurélie Charpin, Karine Peignaux, Sandy Chevrier, Frédérique Vegran, François Ghiringhelli, Romain Boidot, Nicolas Sevenet, Sarab Lizard, Laurence Faivre
Publikováno v:
Oncotarget
Oncotarget, Impact journals, 2017, 8 (2), pp.1957-1971. 〈http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path=12699&pubmed-linkout=1〉. 〈10.18632/oncotarget.12699〉
Oncotarget, Impact journals, 2017, 8 (2), pp.1957-1971. ⟨10.18632/oncotarget.12699⟩
Oncotarget, Impact journals, 2017, 8 (2), pp.1957-1971. 〈http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path=12699&pubmed-linkout=1〉. 〈10.18632/oncotarget.12699〉
Oncotarget, Impact journals, 2017, 8 (2), pp.1957-1971. ⟨10.18632/oncotarget.12699⟩
IF 5.008 (2015/2016); International audience; Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba3e57cdb27eb854c758930ccf5b719d
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01527309
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01527309