PB1819: KMT2A::ARHGEF12 RARE FUSION ASSOCIATED WITH A NOVEL GERMLINE DDX41 VARIANT IN ACUTE MYELOID LEUKEMIA

Autor: Maxime Roubinet, David Rizzo, Jasmine Chauzeix, Pascal Turlure, Marie-Pierre Laforet, Paco Derouault, Jean Feuillard, Catherine Yardin, Marie-Mathilde Auboiroux, Léa Veyrune, Alexandre Perani, Sylvie Bourthoumieu, Benjamin Dauriat, Nathalie Gachard

Publikováno v: HemaSphere, Vol 7, p e173837c (2023)

Externí odkaz: https://doaj.org/article/ab20469eedcf4af7a3aa8b0a18b13828

Comparison of implantation sites for the development of peritoneal metastasis in a colorectal cancer mouse model using non-invasive bioluminescence imaging.

Autor: Abdelkader Taibi, Jeremie Albouys, Jeremie Jacques, Marie-Laure Perrin, Catherine Yardin, Sylvaine Durand Fontanier, Sylvia M Bardet

Publikováno v: PLoS ONE, Vol 14, Iss 7, p e0220360 (2019)

The development of cancer mouse models is still needed for the identification and preclinical validation of novel therapeutic targets in colorectal cancer, which is the third leading cause of cancer-related deaths in Europe. The purpose of this study

Externí odkaz: https://doaj.org/article/4d0315919c0d455eb4f56a45e83b9550

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Autor: Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy

Publikováno v: American journal of medical genetics. Part AREFERENCES.

Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d3a51772819dc5fee7d4ce45602927
https://pubmed.ncbi.nlm.nih.gov/36369750

WEB shape modifications: angiography–histopathology correlations in rabbits

Autor: Kevin Janot, Grégoire Boulouis, Géraud Forestier, Fouzi Bala, Jonathan Cortese, Zoltán Szatmáry, Sylvia M. Bardet, Maxime Baudouin, Marie-Laure Perrin, Jérémy Mounier, Claude Couquet, Catherine Yardin, Guillaume Segonds, Nicolas Dubois, Alexandra Martinez, Pierre-Louis Lesage, Yong-Hong Ding, Ramanathan Kadirvel, Daying Dai, Charbel Mounayer, Faraj Terro, Aymeric Rouchaud

Publikováno v: Journal of NeuroInterventional Surgery. :jnis-2023

BackgroundWEB Shape Modification (WSM) over time is frequent after aneurysm treatment. In this study, we explored the relationship between histopathological changes and angiographic evolution over time in experimental aneurysms in rabbits treated wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9e1707b1a4297f30d6e1c6d7545743e9
https://doi.org/10.1136/jnis-2023-020193

Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility

Autor: Catherine Yardin, Anne-Claude Tabet, Michael Fenech, Wala Najar, Georges Deschenes, Claire Borie, Marguerite Miguet, Alain Dieterlen, Noufissa Oudrhiri, Radhia M'kacher, Valentine Marquet, Michael Grynberg, Leonhard Heidingsfelder, Nadège Wilhelm-Murer, Annelise Bennaceur-Griscelli, Steffen Junker, Bruno Colicchio, Philippe Voisin, Patrice Carde, William M. Hempel, Mustafa Al Jawhari, Eric Jeandidier

Publikováno v: M'kacher, R, Colicchio, B, Marquet, V, Borie, C, Najar, W, Hempel, W M, Heidingsfelder, L, Oudrhiri, N, Al Jawhari, M, Wilhelm-Murer, N, Miguet, M, Dieterlen, A, Deschênes, G, Tabet, A-C, Junker, S, Grynberg, M, Fenech, M, Bennaceur-Griscelli, A, Voisin, P, Carde, P, Jeandidier, E & Yardin, C 2021, ' Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility ', Fertility and Sterility, vol. 115, no. 1, pp. 164-173 . https://doi.org/10.1016/j.fertnstert.2020.07.005

OBJECTIVE: To test the hypothesis that telomere shortening and/or loss are risk factors for infertility.DESIGN: Retrospective analysis of the telomere status in patients with infertility using conventional cytogenetic data collected prospectively.SET

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508e0d99b33b91e05002b4e393d26d11
https://doi.org/10.1016/j.fertnstert.2020.07.005