Ngā hua rapu - Giurgea, Irina

Mowat-Wilson syndrome in a Moroccan consanguineous family mā Ratbi, Ilham, Elalaoui, Chafai Siham, Dastot-Le, Moal Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz

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Mowat-Wilson syndrome: neurological and molecular study in seven patients mā Paz, José Albino da, Kim, Chong Ae, Goossens, Michael, Giurgea, Irina, Marques-Dias, Maria Joaquina

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders mā Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès

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Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion mā González-Barroso, M. Mar, Giurgea, Irina, Bouillaud, Fredéric, Anedda, Andrea, Bellanné-Chantelot, Christine, Hubert, Laurence, de Keyzer, Yves, de Lonlay, Pascale, Ricquier, Daniel

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Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome mā Lebrun, Nicolas, Giurgea, Irina, Goldenberg, Alice, Dieux, Anne, Afenjar, Alexandra, Ghoumid, Jamal, Diebold, Bertrand, Mietton, Léo, Briand-Suleau, Audrey, Billuart, Pierre, Bienvenu, Thierry

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Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages mā Jumeau, Claire, Awad, Fawaz, Assrawi, Eman, Cobret, Laetitia, Duquesnoy, Philippe, Giurgea, Irina, Valeyre, Dominique, Grateau, Gilles, Amselem, Serge, Bernaudin, Jean-François, Karabina, Sonia-Athina

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In familial Mediterranean fever, soluble TREM-1 plasma level is higher in case of amyloidosis mā Gorlier, Clémence, Sellam, Jérémie, Laurans, Ludivine, Simon, Tabassome, Giurgea, Irina, Bastard, Jean-Philippe, Fellahi, Soraya, Deshayes, Samuel, Grateau, Gilles, Ait Oufella, Hafid, Georgin-Lavialle, Sophie

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Response to Letter to the Editor mā Gorlier, Clémence, Sellam, Jérémie, Laurans, Ludivine, Simon, Tabassome, Giurgea, Irina, Bastard, Jean-Philippe, Fellahi, Soraya, Deshayes, Samuel, Grateau, Gilles, Oufella, Hafid Ait, Georgin-Lavialle, Sophie

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Extended spectrum of MBD5 mutations in neurodevelopmental disorders mā Bonnet, Céline, Ali Khan, Asma, Bresso, Emmanuel, Vigouroux, Charlène, Béri, Mylène, Lejczak, Sarah, Deemer, Bénédicte, Andrieux, Joris, Philippe, Christophe, Moncla, Anne, Giurgea, Irina, Devignes, Marie-Dominique, Leheup, Bruno, Jonveaux, Philippe

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Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation mā Awad, Fawaz, Assrawi, Eman, Jumeau, Claire, Georgin-Lavialle, Sophie, Cobret, Laetitia, Duquesnoy, Philippe, Piterboth, William, Thomas, Lucie, Stankovic-Stojanovic, Katia, Louvrier, Camille, Giurgea, Irina, Grateau, Gilles, Amselem, Serge, Karabina, Sonia-Athina

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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C mā Tosca, Lucie, Drévillon, Loïc, Mouka, Aurélie, Lecerf, Laure, Briand, Audrey, Ortonne, Valérie, Benoit, Virginie, Brisset, Sophie, Van Maldergem, Lionel, Laudouar, Quitterie, Heide, Solveig, Goossens, Michel, Giurgea, Irina, Tachdjian, Gérard, Métay, Corinne

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 mā Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 

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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 mā Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A L, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C J, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte

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The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event mā Awad, Fawaz, Assrawi, Eman, Jumeau, Claire, Odent, Sylvie, Despert, Veronique, Cam, Gérard, Perdriger, Aleth, Louvrier, Camille, Cobret, Laetitia, Copin, Bruno, Chantot‐Bastaraud, Sandra, Duquesnoy, Philippe, Piterboth, William, Le Jeunne, Claire, Quenum‐Miraillet, Genevieve, Siffroi, Jean Pierre, Georgin‐Lavialle, Sophie, Grateau, Gilles, Legendre, Marie, Giurgea, Irina, Karabina, Sonia‐Athina, Amselem, Serge

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis mā Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina

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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects mā Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme

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