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Pregnancy and neonatal outcomes in women with GCK-MODY: an observational study based on standardised insulin modalities GCK-MODY女性患者的妊娠与新生儿结局：一项基于标准化胰岛素方案模式的观察性研究 Ciangura, Cecile; Seco, Aurelien; Saint-Martin, Cecile; Ancel, Pierre-Yves; Bouvet, Delphine; Jacqueminet, Sophie; Hartemann, Agnes; Lepercq, Jacques; Nizard, Jacky; Timsit, Jose; Bellanne-Chantelot, Christine; Soc Francophone Diabet, Salha 分享 收藏
Identification of Hepatic-like Erythropoietin with Enhanced Activity As a New Cause of Hereditary and Acquired Erythrocytosis 鉴定具有增强活性的肝样促红细胞生成素作为遗传性和获得性红细胞增多症的新病因 Martin, Laurent; Maric, Darko; Idriss, Salam; Delamare, Marine; Le Roy, Amandine; Maaziz, Nada; Caillaud, Amandine; Si-Tayeb, Karim; Robriquet, Florence; Lenglet, Marion; Erceau, Lucie; Bellanne-Chantelot, Christine; Plo, Isabelle; Aral, Bernard; Garrec, Celine; Airaud, Fabrice; Gianfermi, Clara; Antunes, Vincent; Keppner, Anna; Vincent, Sarah Mathilda; Desfontaine, Alexis; Mode, Nina; Laporte, Fabien; Gaignerie, Anne; Chariau, Caroline; Leray, Isabelle; Rogue, Coline; David, Laurent; Redon, Richard; Bezieau, Stephane; Mansour, Lamisse; Galacteros, Frederic; Maillet, Thibault; Pasquet, Marlene; Cougoul, Pierre; Nloga, Anne-Marie; Gardin, Claude; Guitton, Corinne; Dubruille, Viviane; Giacobbi-Milet, Vannina; Leblanc, Thierry; Kaya, Zuhre; Semama, Denis; James, Chloe; Carillo, Serge; Ochmann, Marlene; Waage, Anders; Mortier, Erwan; Maillasson, Mike; Quemener, Agnes; Cario, Holger; Skoda, Radek C.; Zermati, Yael; Hoogewijs, David; Marchand, Alexandre; Girodon, Francois; Gardie, Betty 分享 收藏
Plasma 21-deoxycortisone: a sensitive additive tool in 21-hydroxylase deficiency in newborns Fiet, Jean; Bachelot, Guillaume; Sow, Coumba; Farabos, Dominique; Helin, Nicolas; Eguether, Thibaut; Dufourg, Marie-Noelle; Bellanne-Chantelot, Christine; Ribaut, Bettina; Bachelot, Anne; Young, Jacques; Houang, Muriel; Lamaziere, Antonin 分享 收藏
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoterdriven HNF4A-MODY diabetes Kind, Laura; Molnes, Janne; Tjora, Erling; Raasakka, Arne; Myllykoski, Matti; Colclough, Kevin; Saint-Martin, Cecile; Adelfalk, Caroline; Dusatkova, Petra; Pruhova, Stepanka; Valtonen-Andre, Camilla; Bellanne-Chantelot, Christine; Arnesen, Thomas; Kursula, Petri; Njolstad, Pal Rasmus 分享 收藏
CXCR4 Antagonist in HPV5-Associated Perianal Squamous-Cell Carcinoma Marin-Esteban, Viviana; Molet, Lucie; Lagana, Marta; Ciocan, Dragos; Dominguez-Lafage, Clement; Alouche, Nagham; Nguyen, Julie; Gallego, Carmen; Mercier-Nome, Francoise; Jaracz-Ros, Agnieszka; Beaupain, Blandine; Bouligand, Jerome; Proust, Alexis; Habib, Christophe; Bonnin, Remy A.; Girlich, Delphine; Fouyssac, Fanny; Schmutz, Jean-Luc; Bursztejn, Anne-Claire; Bellanne-Chantelot, Christine; Bourrat, Emmanuelle; Herfs, Michael; Espeli, Marion; Balabanian, Karl; Schlecht-Louf, Geraldine; Donadieu, Jean; Bachelerie, Francoise; Deback, Claire 分享 收藏
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects Kaci, Alba; Solheim, Marie Holm; Silgjerd, Trine; Hjaltadottir, Jorunn; Hornnes, Lorentze Hope; Molnes, Janne; Madsen, Andre; Sjoholt, Gry; Bellanne-Chantelot, Christine; Caswell, Richard; Sagen, Jorn, V; Njolstad, Pal R.; Aukrust, Ingvild; Bjorkhaug, Lise 分享 收藏
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Somatic genetic alterations predict hematological progression in GATA2 deficiency Largeaud, Laetitia; Collin, Matthew; Monselet, Nils; Vergez, Francois; Fregona, Vincent; Larcher, Lise; Hirsch, Pierre; Duployez, Nicolas; Bidet, Audrey; Luquet, Isabelle; Bustamante, Jacinta; Dufrechou, Stephanie; Prade, Nais; Nolla, Marie; Hamelle, Camille; Tavitian, Suzanne; Habib, Christophe; Meynier, Mateo; Bellanne-Chantelot, Christine; Donadieu, Jean; de Fontbrune, Flore Sicre; Fieschi, Claire; Ferster, Alina; Delhommeau, Francois; Delabesse, Eric; Pasquet, Marlene 分享 收藏
Fertility and pregnancy outcomes in women with nonclassic 21-hydroxylase deficiency Carriere, Camille; Nguyen, Lee S.; Courtillot, Carine; Tejedor, Isabelle; Chakhtoura, Zeina; Bellanne-Chantelot, Christine; Tardy, Veronique; Leban, Monique; Touraine, Philippe; Bachelot, Anne 分享 收藏
Variants influencing age at diagnosis of HNF1A-MODY Ludwig-Slomczynska, Agnieszka H.; Seweryn, Michal T.; Radkowski, Piotr; Kapusta, Przemyslaw; Machlowska, Julita; Pruhova, Stepanka; Gasperikova, Daniela; Bellanne-Chantelot, Christine; Hattersley, Andrew; Kandasamy, Balamurugan; Letourneau-Freiberg, Lisa; Philipson, Louis; Doria, Alessandro; Wolkow, Pawel P.; Malecki, Maciej T.; Klupa, Tomasz 分享 收藏
Somatic genetic rescue of a germline ribosome assembly defect (vol 12, 5044, 2021) Tan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick 分享 收藏
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Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity Marin-Esteban, Viviana; Youn, Jenny; Beaupain, Blandine; Jaracz-Ros, Agnieszka; Barlogis, Vincent; Fenneteau, Odile; Leblanc, Thierry; Bellanger, Florence; Pellet, Philippe; Buratti, Julien; Lapillonne, Helene; Bachelerie, Francoise; Donadieu, Jean; Bellanne-Chantelot, Christine 分享 收藏
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Somatic genetic rescue of a germline ribosome assembly defect Tan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick 分享 收藏
Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms Pegliasco, Jean; Hirsch, Pierre; Marzac, Christophe; Isnard, Francoise; Meniane, Jean-Come; Deswarte, Caroline; Pellet, Philippe; Lemaitre, Celine; Leroy, Gwendoline; Rabadan Moraes, Graciela; Guermouche, Helene; Schmaltz-Panneau, Barbara; Pasquier, Florence; Colas, Chrystelle; Benusiglio, Patrick R.; Bera, Odile; Bourhis, Jean-Henri; Brissot, Eolia; Caron, Olivier; Chraibi, Samy; Cony-Makhoul, Pascale; Delaunay-Darivon, Christine; Lapusan, Simona; de Fontbrune, Flore Sicre; Fuseau, Pascal; Najman, Albert; Vainchenker, William; Delhommeau, Francois; Micol, Jean-Baptiste; Plo, Isabelle; Bellanne-Chantelot, Christine 分享 收藏
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