Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Paul Kuentz"'
Autor:
Jean Donadieu, Delphine Héron, Laurence Faivre, Salima El Chehadeh, Daphné Lehalle, Claire Briandet, Elodie Gautier, Julien Thevenon, Daniel Amram, Thibaud Jouan, Jean-Baptiste Rivière, Judith Melki, Laurence Duplomb-Jego, Frédéric Huet, Christine Bellanné-Chantelot, Christel Thauvin-Robinet, Ange-Line Bruel, Yannis Duffourd, Lucile Pinson, Isabelle Maystadt, Judith St-Onge, Sophia Julia, Alexandra Gauthier-Vasserot, Paul Kuentz
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, ⟨10.1002/ajmg.a.37969⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 〈10.1002/ajmg.a.37969〉
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
International audience; Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after
Autor:
Wallid Deb, Bertrand Cariou, Arnaud Wiedemann, Julien Thevenon, Rhonda E. Schnur, Vincent Ramaekers, Alexandre N. Datta, Richard Redon, Solène Conrad, Natacha Sloboda, Benjamin Cogné, François Feillet, Geneviève Baujat, Bertrand Isidor, Pierre Vabres, Tawfeg Ben-Omran, Marie Vincent, Flora Breheret, Dorothea Wand, Aline Delignières, Laurence Faivre, Betty Gardie, Xavier Balguerie, Anne-Claire Bursztejn, Marion Lenglet, Lionel Van Maldergem, Sébastien Küry, Antonin Lamaziere, Virginie Carmignac, Eva Trochu, Sébastien Barbarot, Marie-Cécile Nassogne, Erin Torti, Yue Si, Paul Kuentz, Thomas Besnard, Jean-Louis Guéant, Alice Goldenberg, Stéphane Bézieau
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 21, no.9, p. 2025-2035 (2019)
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2025-2035. ⟨10.1038/s41436-019-0445-x⟩
Web of Science
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2025-2035. ⟨10.1038/s41436-019-0445-x⟩
Web of Science
International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea3cff14711e5e791a560c860d3f8040
https://hdl.handle.net/2078.1/239317
https://hdl.handle.net/2078.1/239317
Autor:
Bertrand Isidor, Christine Francannet, D. Li, Samuel W. Baker, Gaëlle Vieville, Martine Doco-Fenzy, David Geneviève, I. Giurgea, Anna Gréen, Emily Fassi, Caroline Nava, Roseline Caumes, C. Fournier, Alexandra Afenjar, Françoise Devillard, Yuri A. Zarate, Damien Sanlaville, Michael Field, Elisabetta Lapi, Sandra Whalen, Emma Bedoukian, Alice Goldenberg, S. Steinwall Larsen, Jamal Ghoumid, Marjolaine Willems, M. Wenzel, Isabelle Marey, Sylvie Picker-Minh, Thomas Smol, Anne-Marie Guerrot, Dominique Bonneau, Gaetan Lesca, Delphine Héron, Elizabeth J. Bhoj, Véronique Satre, Sylvie Manouvrier-Hanu, Christine Coubes, Alain Verloes, Margarita Stefanova, Gaël Nicolas, Amélie Piton, Odile Boute-Benejean, Laurence Faivre, Caroline Thuillier, Bénédicte Gérard, Nicolas Chatron, Florence Petit, Beth Keena, Elise Boudry-Labis, C. Colson, Sonia Bouquillon, Avni Santani, Boris Keren, Lisa Ewans, Tony Roscioli, N. Le Meur, Paul Kuentz, Bryan L. Krock, Catherine Roche-Lestienne, Anne Dieux-Coeslier, Alban Ziegler, Pascale Saugier-Veber, Cyril Mignot, Vera M. Kalscheuer, Addie I. Nesbitt, Charles Coutton
Publikováno v:
neurogenetics
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 〈https://link.springer.com/article/10.1007%2Fs10048-018-0541-0〉. 〈10.1007/s10048-018-0541-0〉
Neurogenetics
Neurogenetics, 2018, 19, pp.93-103
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 〈https://link.springer.com/article/10.1007%2Fs10048-018-0541-0〉. 〈10.1007/s10048-018-0541-0〉
Neurogenetics
Neurogenetics, 2018, 19, pp.93-103
IF 3.269; International audience; Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26742ebefa31c9d6ec26971054a8e524
https://hal.science/hal-02393664
https://hal.science/hal-02393664
Autor:
Matthieu P. Robert, Salima El Chehadeh, Geert Vandeweyer, Candace Bensignor, Wilhelmina S. Kerstjens-Frederikse, Darina Prchalova, Hélène Dollfus, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Paul Kuentz, Edwin Reyniers, Patrick Calvas, Caroline Bonnet, Marketa Havlovicova, Rodica Isaiko, Vincent Laugel, Nicolas Chassaing, Julien Thevenon, Christian Gilissen, Morgane Straub, Laurence Faivre, Yannis Duffourd, Miroslava Hancarova, Bart Loeys, R. Frank Kooy, Ange-Line Bruel, Rolph Pfundt, Catherine Creuzot-Garcher, Jolien S. Klein Wassink-Ruiter, Zdenek Sedlacek
Publikováno v:
European Journal of Human Genetics, 25(1), 43-51. Nature Publishing Group
European Journal of Human Genetics, 25, 43-51
European journal of human genetics: EJHG
European journal of human genetics: EJHG, Nature, 2016, 25 (1), pp.43-51. 〈http://www.nature.com/ejhg/index.html〉. 〈10.1038/ejhg.2016.133〉
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European journal of human genetics
European Journal of Human Genetics, 25, 1, pp. 43-51
European Journal of Human Genetics, 25, 43-51
European journal of human genetics: EJHG
European journal of human genetics: EJHG, Nature, 2016, 25 (1), pp.43-51. 〈http://www.nature.com/ejhg/index.html〉. 〈10.1038/ejhg.2016.133〉
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European journal of human genetics
European Journal of Human Genetics, 25, 1, pp. 43-51
Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be171334f26bc8f01ed43d594d5f8c5
https://research.rug.nl/en/publications/daa8a5f7-967c-43ac-87f6-c19664c6accc
https://research.rug.nl/en/publications/daa8a5f7-967c-43ac-87f6-c19664c6accc
Autor:
Delphine Minot, Sophie Chancenotte, Paul Kuentz, Yvan Henrenger, Mélanie Archimbaud-Devilliers, Christel Thauvin-Robinet, Audrey Creppy, Aurore Curie, Ezzat Ghosn, Alice Masurel-Paulet, Marie Ruffier-Bourdet, Daphné Lehalle, Julien Thevenon, Nicole Philip, Marlène Bonnet, Frédéric Huet, Claire Redin, Laurence Faivre, Jean-Louis Mandel, Amélie Piton, Gaëlle Blanchard, Odile Perret
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. 〈10.1002/ajmg.a.37765〉
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. 〈10.1002/ajmg.a.37765〉
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic micro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d693fe8769b15989697fc7ea973436
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680171
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680171