Zobrazeno 1 - 10
of 182
pro vyhledávání: '"Anne Lise, Delezoide"'
Autor:
Loïc Maillard, Sandra Sanfilippo, Carine Domenech, Nassima Kasmi, Laurence Petit, Sébastien Jacques, Anne-Lise Delezoide, Fabien Guimiot, Soria Eladak, Delphine Moison, Nour Nicolas, Virginie Rouiller-Fabre, Stéphanie Pozzi-Godin, Benoit Mennesson, Marie-Laure Brival, Franck Letourneur, Thierry Jaffredo, Christine Chomienne, Michèle Souyri
Publikováno v:
Haematologica, Vol 105, Iss 2 (2020)
Externí odkaz:
https://doaj.org/article/79ddf9e9e0c84486b97264d36c9a8590
Autor:
Maria Veiga-da-Cunha, Aline Vincent, Jérémie Rosain, Martin Castelle, Jill Serre, Laurent Renesme, Valérie Cormier-Daire, Takfarinas Kentache, Benjamin Fournier, Sophie Blesson, Nathalie Aladjidi, Despina Moshous, Mathieu Fusaro, Eulalie Lasseaux, Capucine Picard, Fanny Morice Picard, Nathalie Seta, Bénédicte Neven, Anne-Lise Delezoide, Catherine Fallet-Bianco, Emile Van Schaftingen
Publikováno v:
Journal of clinical immunology, Vol. 41, no. 5, p. 958-966 (2021)
Phosphoglucomutase 3 (PGM3) deficiency is a rare congenital disorder of glycosylation. Most of patients with autosomal recessive hypomorphic mutations in PGM3 encoding for phosphoglucomutase 3 present with eczema, skin and lung infections, elevated s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a4ecf4b4daa146cf3e124405a3d3fef
https://doi.org/10.1007/s10875-021-00985-w
https://doi.org/10.1007/s10875-021-00985-w
Autor:
Ivo Gut, Sarah Grotto, Céline Bellesme, Arnold Munnich, Cyril Gitiaux, Jeanne Amiel, Chloé Quélin, Annie Laquerrière, Suonavy Khung, Hanitra Ranjatoelina-Randrianaivo, Luc Rigonnot, Christine Francannet, Loic Quevarec, Jérôme Bouligand, Fabienne Prieur, Alexandra Benachi, Valérie Cormier-Daire, Laurence Perrin, Judith Melki, Pierre-Simon Jouk, Flora Nolent, Tania Attié-Bitach, Delphine Héron, Marie-Line Jacquemont, Claire Beneteau, Fabien Guimiot, Laetitia Lambert, Sandra Mercier, Valérie Biancalana, Fanny Laffargue, Elise Boucher, Jean-Louis Bessereau, P. Landrieu, Annick Toutain, Alain Verloes, Alice Goldenberg, Philippe Latour, Dominique Martin-Coignard, Anne Guiochon-Mantel, Dan Mejlachowicz, Damien Sternberg, Haluk Topaloglu, Bruno Eymard, Géraldine Viot, Catherine Fallet-Bianco, Julien Saada, Isabelle Desguerre, Marie-Hélène Saint-Frison, Catherine Vincent-Delorme, Sophie Blesson, Radka Stoeva, Alexandre J. Vivanti, Martine Bucourt, Pascaline Letard, Jérome Maluenda, Laurence Loeuillet, Lionel Van Maldergem, Didier Lacombe, Marcel Tawk, Michèle Granier, Stanislas Lyonnet, Anne-Lise Delezoide, Andrée Delahaye-Duriez, André Mégarbané, Marie Gonzales, Florence Petit, Juliette Piard, Laurence Faivre, Helene Verhelst, Bettina Bessières, Sabine Sigaudy, Sandra Whalen, Valérie Layet, Yline Capri, Fanny Pelluard, Emanuela Abiusi, Klaus Dieterich, Marie Vincent, Marine Legendre, Dana Jaber, Romulus Grigorescu, Florent Marguet, Eric Bieth, Helge Amthor, Christine Barnerias, Estelle Colin, Laetitia Trestard, Mathilde Nizon, Jelena Martinovic, Daniel Amram, Nicoletta Resta
Publikováno v:
JOURNAL OF MEDICAL GENETICS
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5ca5c2b4280785da88a26155872ce7
https://hdl.handle.net/1854/LU-8759575
https://hdl.handle.net/1854/LU-8759575
Autor:
Aude-Marie Lepagnol-Bestel, Agnes Zvara, Gilles Maussion, Frédérique Quignon, Bedel Ngimbous, Nicolas Ramoz, Sandrine Imbeaud, Yann Loe-Mie, Karim Benihoud, Nicolas Agier, Paul A Salin, Ana Cardona, Suonavy Khung-Savatovsky, Pekka Kallunki, Jean-Maurice Delabar, Laszlo G Puskas, Hervé Delacroix, Lawrence Aggerbeck, Anne-Lise Delezoide, Olivier Delattre, Philip Gorwood, Jean-Marie Moalic, Michel Simonneau
Publikováno v:
Human Molecular Genetics. 31:2106-2107
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90993248733f8dd7cd43ef63a830b23e
https://doi.org/10.1093/hmg/ddab346
https://doi.org/10.1093/hmg/ddab346
Autor:
Laetitia Martinerie, Eric Pussard, Geri Meduri, Anne-Lise Delezoide, Pascal Boileau, Marc Lombès
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31949 (2012)
BACKGROUND: Glucocorticoid hormones play a major role in fetal organ maturation. Yet, excessive glucocorticoid exposure in utero can result in a variety of detrimental effects, such as growth retardation and increased susceptibility to the developmen
Externí odkaz:
https://doaj.org/article/6218c49c82d44fa8b759a6373cf3b1ed
Autor:
Laurent Schibler, Linda Gibbs, Catherine Benoist-Lasselin, Charles Decraene, Jelena Martinovic, Philippe Loget, Anne-Lise Delezoide, Marie Gonzales, Arnold Munnich, Jean-Philippe Jais, Laurence Legeai-Mallet
Publikováno v:
PLoS ONE, Vol 4, Iss 10, p e7633 (2009)
Endochondral ossification is the process by which the appendicular skeleton, facial bones, vertebrae and medial clavicles are formed and relies on the tight control of chondrocyte maturation. Fibroblast growth factor receptor (FGFR)3 plays a role in
Externí odkaz:
https://doaj.org/article/1d1cda7be60b46d78100f93aa72bb02c
Autor:
Michèle Souyri, Soria Eladak, Fabien Guimiot, Nassima Kasmi, Laurence Petit, Delphine Moison, Marie-Laure Brival, Sandra Sanfilippo, Nour Nicolas, Virginie Rouiller-Fabre, Thierry Jaffredo, Christine Chomienne, Franck Letourneur, Loïc Maillard, Carine Domenech, Benoît Mennesson, Anne-Lise Delezoide, Stéphanie Pozzi-Godin, Sébastien Jacques
Publikováno v:
Haematologica
Haematologica, Ferrata Storti Foundation, 2019, pp.haematol.2018.207811. ⟨10.3324/haematol.2018.207811⟩
Haematologica, Ferrata Storti Foundation, 2020, 105 (2), pp.e43-e47. ⟨10.3324/haematol.2018.207811⟩
Haematologica, Ferrata Storti Foundation, 2019, pp.haematol.2018.207811. ⟨10.3324/haematol.2018.207811⟩
Haematologica, Ferrata Storti Foundation, 2020, 105 (2), pp.e43-e47. ⟨10.3324/haematol.2018.207811⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd09b5f6b446936d90c2d40cf5093927
https://hal.archives-ouvertes.fr/hal-02398475
https://hal.archives-ouvertes.fr/hal-02398475
Autor:
Loïc, Maillard, Sandra, Sanfilippo, Carine, Domenech, Nassima, Kasmi, Laurence, Petit, Sébastien, Jacques, Anne-Lise, Delezoide, Fabien, Guimiot, Soria, Eladak, Delphine, Moison, Nour, Nicolas, Virginie, Rouiller-Fabre, Stéphanie, Pozzi-Godin, Benoit, Mennesson, Marie-Laure, Brival, Franck, Letourneur, Thierry, Jaffredo, Christine, Chomienne, Michèle, Souyri
Publikováno v:
Haematologica. 105(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ad28f2a0f8a6b33163b16978af957470
https://pubmed.ncbi.nlm.nih.gov/31248971
https://pubmed.ncbi.nlm.nih.gov/31248971
Autor:
Hervé Testard, Martine Doco-Fenzy, Alice Goldenberg, Fabienne Prieur, Caroline Michot, Marcia Henry, Sandrine Marlin, Sophie Blesson, Clarisse Baumann, Valérie Cormier-Daire, Philippe Loget, Sylvie Odent, Marlène Rio, Anne-Lise Delezoide, Andrée Delahaye-Duriez, Jean-Paul Bonnefont, Anne Dieux-Coeslier, Audrey Putoux, Marie-Pierre Cordier-Alex, Ghislaine Plessis, Valérie Layet, Albert David, Mathilde Nizon, Bettina Bessières, Jelena Martinovic, Laurent Pasquier, Anne Bazin, Laurence Faivre
Publikováno v:
Clinical Genetics. 89:584-589
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b274726470a6ca27c16665f9f3fcf19
https://doi.org/10.1111/cge.12720
https://doi.org/10.1111/cge.12720
Autor:
Sowmyalakshmi Rasika, Jean-Louis Benifla, Anne-Lise Delezoide, Homa Adle-Biassette, Gabor G. Kovacs, Eleonora Aronica, Philippe Manivet, Sara Cipriani, Pierre Gressens, Catherine Verney, Jeannette Nardelli, Ivan Milenkovic, Suonavy Khung, Isidre Ferrer, Nicolas Deriot
Publikováno v:
Cipriani, S, Ferrer, I, Aronica, E, Kovacs, G G, Verney, C, Nardelli, J, Khung, S, Delezoide, A-L, Milenkovic, I, Rasika, S, Manivet, P, Benifla, J-L, Deriot, N, Gressens, P & Adle-Biassette, H 2018, ' Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer's Disease Adults ', Cerebral cortex (New York, N.Y. : 1991) . https://doi.org/10.1093/cercor/bhy096
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Neuropathological conditions might affect adult granulogenesis in the adult human dentate gyrus. However, radial glial cells (RGCs) have not been well characterized during human development and aging. We have previously described progenitor and neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::403c05b37f9d90eb8d629238b04b4cc7
https://kclpure.kcl.ac.uk/en/publications/b6c9cacc-f9fc-412b-af88-a8ca440faeff
https://kclpure.kcl.ac.uk/en/publications/b6c9cacc-f9fc-412b-af88-a8ca440faeff