Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
Whitfield, Marjorie, Thomas, Lucie, Bequignon, Emilie, Schmitt, Alain, Stouvenel, Laurence, Montantin, Guy, Tissier, Sylvie, Duquesnoy, Philippe, Copin, Bruno, Chantot, Sandra, Dastot, Florence, Faucon, Catherine, Barbotin, Anne Laure, Loyens, Anne, Siffroi, Jean-Pierre, Papon, Jean-François, Escudier, Estelle, Amselem, Serge, Mitchell, Valérie, Touré, Aminata, Legendre, Marie
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
El Khouri, Elma, Thomas, Lucie, Jeanson, Ludovic, Bequignon, Emilie, Vallette, Benoit, Duquesnoy, Philippe, Montantin, Guy, Copin, Bruno, Dastot-Le Moal, Florence, Blanchon, Sylvain, Papon, Jean François, Lorès, Patrick, Yuan, Li, Collot, Nathalie, Tissier, Sylvie, Faucon, Catherine, Gacon, Gérard, Patrat, Catherine, Wolf, Jean Philippe, Dulioust, Emmanuel, Crestani, Bruno, Escudier, Estelle, Coste, André, Legendre, Marie, Touré, Aminata, Amselem, Serge
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella
Thomas, Lucie, Bouhouche, Khaled, Whitfield, Marjorie, Thouvenin, Guillaume, Coste, Andre, Louis, Bruno, Szymanski, Claire, Bequignon, Emilie, Papon, Jean-François, Castelli, Manon, Lemullois, Michel, Dhalluin, Xavier, Drouin-Garraud, Valérie, Montantin, Guy, Tissier, Sylvie, Duquesnoy, Philippe, Copin, Bruno, Dastot, Florence, Couvet, Sandrine, Barbotin, Anne-Laure, Faucon, Catherine, Honore, Isabelle, Maitre, Bernard, Beydon, Nicole, Tamalet, Aline, Rives, Nathalie, Koll, France, Escudier, Estelle, Tassin, Anne-Marie, Touré, Aminata, Mitchell, Valérie, Amselem, Serge, Legendre, Marie
Published in American journal of human genetics (06.02.2020)
Published in American journal of human genetics (06.02.2020)
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Skewed X-chromosome inactivation drives the proportion of DNAAF6 -defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
Thomas, Lucie, Cuisset, Laurence, Papon, Jean-Francois, Tamalet, Aline, Pin, Isabelle, Abou Taam, Rola, Faucon, Catherine, Montantin, Guy, Tissier, Sylvie, Duquesnoy, Philippe, Dastot-Le Moal, Florence, Copin, Bruno, Carion, Nathalie, Louis, Bruno, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre, Mitri, Rana, Coste, André, Escudier, Estelle, Thouvenin, Guillaume, Amselem, Serge, Legendre, Marie
Published in Journal of medical genetics (01.06.2024)
Published in Journal of medical genetics (01.06.2024)
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Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
Blanchon, Sylvain, Legendre, Marie, Bottier, Mathieu, Tamalet, Aline, Montantin, Guy, Collot, Nathalie, Faucon, Catherine, Dastot, Florence, Copin, Bruno, Clement, Annick, Filoche, Marcel, Coste, André, Amselem, Serge, Escudier, Estelle, Papon, Jean-Francois, Louis, Bruno
Published in Journal of medical genetics (01.04.2020)
Published in Journal of medical genetics (01.04.2020)
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