PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial Hypobetalipoproteinemia von Cariou, Bertrand, Ouguerram, Khadija, Zaïr, Yassine, Guerois, Raphael, Langhi, Cédric, Kourimate, Sanae, Benoit, Isabelle, Le May, Cédric, Gayet, Constance, Belabbas, Khaldia, Dufernez, Fabienne, Chétiveaux, Maud, Tarugi, Patrizia, Krempf, Michel, Benlian, Pascale, Costet, Philippe

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Molecular Phylogenies of Blastocystis Isolates from Different Hosts: Implications for Genetic Diversity, Identification of Species, and Zoonosis von NOËL, Christophe, DUFERNEZ, Fabienne, PIERCE, Raymond, ZENNER, Lionel, VISCOGLIOSI, Eric, GERBOD, Delphine, EDGCOMB, Virginia P, DELGADO-VISCOGLIOSI, Pilar, HO, Lip-Chuen, SINGH, Mulkit, WINTJENS, René, SOGIN, Mitchell L, CAPRON, Monique

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Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S] von Wintjens, René, Bozon, Dominique, Belabbas, Khaldia, MBou, Félicien, Girardet, Jean-Philippe, Tounian, Patrick, Jolly, Mathilde, Boccara, Franck, Cohen, Ariel, Karsenty, Alexandra, Dubern, Béatrice, Carel, Jean-Claude, Azar-Kolakez, Ahlam, Feillet, François, Labarthe, François, Gorsky, Anne-Marie Colin, Horovitz, Alice, Tamarindi, Catherine, Kieffer, Pierre, Lienhardt, Anne, Lascols, Olivier, Di Filippo, Mathilde, Dufernez, Fabienne

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New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome von Pacault, Mathilde, Vincent, Marie, Besnard, Thomas, Kannengiesser, Caroline, Bénéteau, Claire, Barbarot, Sébastien, Latypova, Xénia, Belabbas, Khaldia, Lamazière, Antonin, Winer, Norbert, Joubert, Madeleine, Bézieau, Stéphane, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Leclerc-Mercier, Stéphanie, Hadj-Rabia, Smail, Dufernez, Fabienne

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Specificity and Phenetic Relationships of Iron- and Manganese-containing Superoxide Dismutases on the Basis of Structure and Sequence Comparisons von Wintjens, René, Noël, Christophe, May, Alex C.W., Gerbod, Delphine, Dufernez, Fabienne, Capron, Monique, Viscogliosi, Eric, Rooman, Marianne

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Molecular Identification of Tritrichomonas foetus-Like Organisms as Coinfecting Agents of Human Pneumocystis Pneumonia von Duboucher, Christophe, Caby, Stéphanie, Dufernez, Fabienne, Chabé, Magali, Gantois, Nausicaa, Delgado-Viscogliosi, Pilar, Billy, Christophe, Barré, Eric, Torabi, Edith, Capron, Monique, Pierce, Raymond J, Dei-Cas, Eduardo, Viscogliosi, Eric

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Germline mosaicism is a pitfall in PGD for X‐linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia pun... von Viart, Victoria, Willems, Marjolaine, Ishmukhametova, Aliya, Dufernez, Fabienne, Anahory, Tal, Hamamah, Samir, Schmitt, Sébastien, Claustres, Mireille, Girardet, Anne

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Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia pun... von Viart, Victoria, Willems, Marjolaine, Ishmukhametova, Aliya, Dufernez, Fabienne, Anahory, Tal, Hamamah, Samir, Schmitt, Sébastien, Claustres, Mireille, Girardet, Anne

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Chondrodysplasie ponctuée liée à l’X : un risque d’hémorragie intracrânienne fœtale von Egloff, Matthieu, Létard, Pascaline, Wintjens, René, Van-Gils, Julien, Martinovic, Jelena, Laffargue, Fanny, Dufernez, Fabienne

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Wilson disease in offspring of affected patients: Report of four French families von Dufernez, Fabienne, Lachaux, Alain, Chappuis, Philippe, De Lumley, Lionel, Bost, Muriel, Woimant, France, Misrahi, Micheline, Debray, Dominique

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The presence of four iron-containing superoxide dismutase isozymes in Trypanosomatidae: Characterization, subcellular localization, and phylogenetic origin in Trypanosoma brucei von Dufernez, Fabienne, Yernaux, Cédric, Gerbod, Delphine, Noël, Christophe, Chauvenet, Mélanie, Wintjens, René, Edgcomb, Virginia P., Capron, Monique, Opperdoes, Fred R., Viscogliosi, Eric

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Severe X-linked chondrodysplasia punctata in nine new female fetuses von Lefebvre, Mathilde, Dufernez, Fabienne, Bruel, Ange-Line, Gonzales, Marie, Aral, Bernard, Saint-Onge, Judith, Gigot, Nadège, Desir, Julie, Daelemans, Caroline, Jossic, Frédérique, Schmitt, Sébastien, Mangione, Raphaele, Pelluard, Fanny, Vincent-Delorme, Catherine, Labaune, Jean-Marc, Bigi, Nicole, D'Olne, Dominique, Delezoide, Anne-Lise, Toutain, Annick, Blesson, Sophie, Cormier-Daire, Valérie, Thevenon, Julien, El Chehadeh, Salima, Masurel-Paulet, Alice, Joyé, Nicole, Vibert-Guigue, Claude, Rigonnot, Luc, Rousseau, Thierry, Vabres, Pierre, Hervé, Philippe, Lamazière, Antonin, Rivière, Jean-Baptiste, Faivre, Laurence, Laurent, Nicole, Thauvin-Robinet, Christel

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Retards staturaux liés au gène SHOX : étude rétrospective multicentrique sur l’implication des CNVs et l’apport du séquençage von Egloff, Matthieu, Patri, Sylvie, Compain, Florence, Bouazzaoui, Abdelhakim, Boucher Brischoux, Elise, Costa, Jean-Marc, Denizet-Avice, Anne-Laude, Engel, Camille, Fradin, Mélanie, Jaillard, Sylvie, Kuentz, Paul, Le Guillou-Horn, Xavier, Letard, Pascaline, Niclass, Tanguy, Piard, Juliette, Redon, Sylvia, Roullaud, Sylvie, Roze-Guillaumey, Virginie, Le Guyader, Gwenael, Dufernez, Fabienne, Porteret, Camille

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Morphological and Molecular Identification of Non-Tritrichomonas foetus Trichomonad Protozoa from the Bovine Preputial Cavity von DUFERNEZ, FABIENNE, WALKER, RICHARD L, NOËL, CHRISTOPHE, CABY, STEPHANIE, MANTINI, CLEA, DELGADO-VISCOGLIOSI, PILAR, OHKUMA, MORIYA, KUDO, TOSHIAKI, CAPRON, MONIQUE, PIERCE, RAYMOND J, VILLANUEVA, MICHELLE R, VISCOGLIOSI, ERIC

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Molecular phylogeny of parabasalids inferred from small subunit rRNA sequences, with emphasis on the Devescovinidae and Calonymphidae (Trichomonadea) von Gerbod, Delphine, Noël, Christophe, Dolan, Michael F., Edgcomb, Virginia P., Kitade, Osamu, Noda, Satoko, Dufernez, Fabienne, Ohkuma, Moriya, Kudo, Toshiaki, Capron, Monique, Sogin, Mitchell L., Viscogliosi, Eric

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Molecular Characterization of Iron-Containing Superoxide Dismutases in the Heterotrophic Dinoflagellate Crypthecodinium cohnii von Dufernez, Fabienne, Derelle, Evelyne, Noël, Christophe, Sanciu, Giovanna, Mantini, Cléa, Dive, Daniel, Soyer-Gobillard, Marie-Odile, Capron, Monique, Pierce, Raymond J., Wintjens, René, Guillebault, Delphine, Viscogliosi, Eric

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Molecular phylogenies of Blastocystis isolates from different hosts : Implications for genetic diversity, identification of species, and zoonosis von Noël, Christophe, Dufernez, Fabienne, Gerbod, Delphine, Edgcomb, Virginia P., Delgado-Viscogliosi, Pilar, Ho, Lip-Chuen, Singh, Mulkit, Wintjens, René, Sogin, Mitchell L., Capron, Monique, Pierce, Raymond, Zenner, Lionel, Viscogliosi, Eric

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