Toxoplasmosis reactivation following HAART introduction associated with foetal death in a severely immune suppressed HIV-infected woman: an immune reconstitution inflammatory syndrome (IRIS) consequence?

Autor: Dommergues Marc, Katlama Christine, Canestri Ana, Pauchard Michèle, Carcelain Guislaine, Gonzales Marie, Grigorescu Romulus, Paris Luc, Touafek Fériel, Lemercier Delphine, Caby Fabienne, Tubiana Roland

Publikováno v: Retrovirology, Vol 5, Iss Suppl 1, p O9 (2008)

Externí odkaz: https://doaj.org/article/c016c6e7fa0b4ace9b87837888b1d08b

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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Autor: Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith

Publikováno v: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 6 p559-567, 9p

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Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

Autor: Quélin, Chloé, Loget, Philippe, Verloes, Alain, Bazin, Anne, Bessières, Bettina, Laquerrière, Annie, Patrier, Sophie, Grigorescu, Romulus, Encha-Razavi, Ferechté, Delahaye, Sophie, Jouannic, Jean-Marie, Carbonne, Bruno, D’Hervé, Dominique, Aubry, Marie-Cécile, Macé, Guillaume, Harvey, Thierry, Ville, Yves, Viot, Geraldine, Joyé, Nicole, Odent, Sylvie, Attié-Bitach, Tania, Wolf, Claude, Chevy, Françoise, Benlian, Pascale, Gonzales, Marie

Publikováno v: In European Journal of Medical Genetics February 2012 55(2):81-90