Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Caroline, Lacoste"'
Autor:
Stéphanie Dulucq, Françoise Rigal‐Huguet, Franck E. Nicolini, Pascale Cony‐Makhoul, Martine Escoffre‐Barbe, Martine Gardembas, Laurence Legros, Philippe Rousselot, Jixing Liu, Delphine Rea, Véronique De Mas, Sandrine Hayette, Sophie Raynaud, Caroline Lacoste‐Roussillon, Fanny Robbesyn, Emilie Klein, Stéphane Morisset, François‐Xavier Mahon, Gabriel Etienne
Publikováno v:
British Journal of Haematology.
Autor:
Affef Abidi, Jérôme J. Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine De La Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaetan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn
Publikováno v:
Neurobiology of Disease, Vol 80, Iss , Pp 80-92 (2015)
Mutations in the KCNQ2 gene encoding the voltage-dependent potassium M channel Kv7.2 subunit cause either benign epilepsy or early onset epileptic encephalopathy (EOEE). It has been proposed that the disease severity rests on the inhibitory impact of
Externí odkaz:
https://doaj.org/article/bb8812cd369d45d1b82eede26d4f8c12
Autor:
Pierre-Yves, Maillard, Sarah, Baer, Élise, Schaefer, Béatrice, Desnous, Nathalie, Villeneuve, Anne, Lépine, Alexandre, Fabre, Caroline, Lacoste, Salima, El Chehadeh, Amélie, Piton, Louise Frances, Porter, Caroline, Perriard, Marie-Thérèse Abi, Wardé, Marie-Aude, Spitz, Vincent, Laugel, Gaëtan, Lesca, Audrey, Putoux, Dorothée, Ville, Cyril, Mignot, Delphine, Héron, Rima, Nabbout, Giulia, Barcia, Marlène, Rio, Agathe, Roubertie, Pierre, Meyer, Véronique, Paquis-Flucklinger, Olivier, Patat, Jérémie, Lefranc, Marion, Gerard, Julietta, de Bellescize, Laurent, Villard, Anne, De Saint Martin, Mathieu, Milh
Publikováno v:
EpilepsiaREFERENCES. 63(10)
γ-Aminobutyric acid (GABA)We collected clinical, electrophysiological, therapeutic, and molecular data from patients with GABAWe gathered the reported patients in three epileptic phenotypes: 15 patients with fever-related epilepsy (40%), 11 with ear
Autor:
Lionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, Julitta de Bellescize, Nicolas Chatron, Marie Faoucher, Anne de Saint Martin, Delphine Héron, Guillaume Jedraszak, Caroline Lacoste, Anne-Sophie Lèbre, Mélanie Jenneson-Lyver, Audrey Labalme, Eric Leguern, Cyril Mignot, Mathieu Milh, Rima Nabbout, Caroline Nava, Eleni Panagiotakaki, Amélie Piton, Elise Schaefer, Julien Thevenon, Laurent Villard, Dorothée Ville, Gaetan Lesca
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, 2022, 65 (3), pp.104445. ⟨10.1016/j.ejmg.2022.104445⟩
European Journal of Medical Genetics, 2022, 65 (3), pp.104445. ⟨10.1016/j.ejmg.2022.104445⟩
The EPIGENE network was created in 2014 by four multidisciplinary teams composed of geneticists, pediatric neurologists and neurologists specialized in epileptology and neurophysiology. The ambition of the network was to harmonize and improve the dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb65b8e29c1ee91950f6590e304a9c47
https://hal-amu.archives-ouvertes.fr/hal-03949438/document
https://hal-amu.archives-ouvertes.fr/hal-03949438/document
Autor:
Myriam Lakhmiri, Bénédicte Cavelier-Balloy, Barouyr Baroudjian, Charles Cassius, Caroline Lacoste, Céleste Lebbé, Julie Delyon, Pascal Reygagne
Publikováno v:
JAAD Case Reports. 4:761-765
Immune checkpoint inhibitors (ICI) are new therapies used for solid and hematologic cancers.1, 2 They induce activation of CD4 and CD8 cells that target tumor cells and may target unidentified cutaneous antigens, resulting in an inflammatory process
Autor:
Darina Prchalova, Philippe Pm Campeau, Bénédicte Duban-Bedu, Jacques L. Michaud, Marije Koopmans, Arnold Munnich, Christel Depienne, Marilyn Tallot, Fadi F. Hamdan, Eveline Hagebeuk, Marie-Laure Moutard, Anna Kaminska, Petra Laššuthová, Kathryn G. Miller, Ange Line Bruel, Xilma Xr Ortiz-Gonzalez, Shoji Ichikawa, Ingo Helbig, Ethan Em Goldberg, Sarah Weckhuysen, Daphné Lehalle, Elena Gardella, Marie-Bertille Dehouck, Claude Besmond, Patrick Edery, Christine Ioos, Pauline Marzin, Christine Coubes, Julien Buratti, Rima Nabbout, Hubert Journel, Audrey Putoux, Giulia Barcia, Laurence Hubert, Claire Davidson, Berten Ceulemans, Ana Ag Cristancho, Fiona Cunningham, Chloé Quélin, Christèle Dubourg, Aoife Ac McMahon, Thomas Smol, Delphine Héron, Katalin Štěrbová, Katherine Kl Helbig, Boris Keren, Ivan Shelihan, Damien Lederer, Rikke Rs Møller, Emílie Vyhnálková, Alyssa R. Rosen, Natasha Shur, Julie Gauthier, Dragan Marjanovic, Berge Ba Minassian, Marleen Simon, Ledia Brunga, Guillaume Smits, Sandra Janssens, Catheline Vilain, Gaetan Lesca, Caroline Nava, Jasper J. van der Smagt, Laurent Villard, Cyril Mignot, Samuel P. Yang, Joelle Roume, Julie Soblet, JM Pinard, Stéphanie Gobin-Limballe, Bobby P. C. Koeleman, Miroslava Hancarova, Elizabeth J. Donner, Nienke Ne Verbeek, Marie-Line Jacquemont, Marjan J. A. van Kempen, Julia Metreau, David Geneviève, Joannella Morales, Peter M. van Hasselt, Christine Barnerias, Caroline Lacoste, Claire Bar, Thierry Bienvenu, Mathieu Milh, Elsa Rossignol
Publikováno v:
Genetics in medicine, 21 (4
Genetics in Medicine
Genetics in Medicine, 2019, 21 (4), pp.837-849. ⟨10.1038/s41436-018-0268-1⟩
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M-L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A-L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M-B, Donner, E J, Duban-Bedu, B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M-L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J-M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 4, pp. 837-849 . https://doi.org/10.1038/s41436-018-0268-1
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, 21(4), 837. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2018, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, 2019, 21 (4), pp.837-849. ⟨10.1038/s41436-018-0268-1⟩
Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M-L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A-L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M-B, Donner, E J, Duban-Bedu, B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M-L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J-M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 4, pp. 837-849 . https://doi.org/10.1038/s41436-018-0268-1
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in Medicine, 21(4), 837. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2018, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Genetics in medicine
Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.
SCOPUS: ar.j
info:eu-repo/semantics/published
SCOPUS: ar.j
info:eu-repo/semantics/published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa249166f7233478cfd55c96fecca05b
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287187
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287187
Autor:
Lucas Klepfisch, Amélie Carbonnelle-Puscian, Nelly Provencal, Monique Faisant, Janique Godeneche, Caroline Lacoste, François Skowron
Publikováno v:
Annales de Dermatologie et de Vénéréologie-FMC
Introduction La pandemie du coronavirus a bouleverse les pratiques medicales avec une rupture de la continuite des soins et un retard diagnostic en oncologie avec des diagnostics a des stades plus avances donc de plus mauvais pronostic. Nous nous som
Autor:
Catherine Badens, S. Mallet, Caroline Lacoste, Bertrand Roquelaure, Aurélie Fabre, S. Szepetowski
Publikováno v:
Archives de Pédiatrie. 24:1228-1234
NISCH syndrome is a rare autosomal recessive disease. It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and neonatal sclerosing cholangitis. It is caused by mutations in the CLDN1 gene encoding the claudin-1 protein, which is
Autor:
Caroline Lacoste, Nathalie Bonello-Palot, Katia Gonnet, Françoise Merono, Nicolas Levy, Isabelle Thuret, Catherine Badens
Publikováno v:
Haematologica, Vol 93, Iss 11 (2008)
Externí odkaz:
https://doaj.org/article/fa6aa1a4ac154b15b35376ead934f642
Autor:
Aline Cano, Melissa Baravalle, Caroline Lacoste, Anne-Sophie Monnier, Alexandre Fabre, Marie Loosveld, Véronique Secq, Marie-Edith Coste, Catherine Badens, Patrice Bourgeois, Nicolas Lévy, Céline Roman, Violaine Bresson, André Maues De Paula, Cécile DeLeusse, Karine Bertaux, Clothilde Esteve, Clémence Delteil, Frederic Blanc
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, 2021, 64 (10), pp.104294. ⟨10.1016/j.ejmg.2021.104294⟩
European Journal of Medical Genetics, 2021, 64 (10), pp.104294. ⟨10.1016/j.ejmg.2021.104294⟩
Cytoplasmic aminoacyl-tRNA synthetases (ARSs) are emerging as a cause of numerous rare inherited diseases. Recently, biallelic variants in tyrosyl-tRNA synthetase 1 (YARS1) have been described in ten patients of three families with multi-systemic dis