Search Results - "ESCALIER, Denise" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

by Ben Khelifa, Mariem, Coutton, Charles, Zouari, Raoudha, Karaouzène, Thomas, Rendu, John, Bidart, Marie, Yassine, Sandra, Pierre, Virginie, Delaroche, Julie, Hennebicq, Sylviane, Grunwald, Didier, Escalier, Denise, Pernet-Gallay, Karine, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.
Published in American journal of human genetics (02.01.2014)

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Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

by Duquesnoy, Philippe, Escudier, Estelle, Vincensini, Laetitia, Freshour, Judy, Bridoux, Anne-Marie, Coste, André, Deschildre, Antoine, de Blic, Jacques, Legendre, Marie, Montantin, Guy, Tenreiro, Henrique, Vojtek, Anne-Marie, Loussert, Céline, Clément, Annick, Escalier, Denise, Bastin, Philippe, Mitchell, David R., Amselem, Serge
Published in American journal of human genetics (11.12.2009)

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Septins at the annulus of mammalian sperm

Septins at the annulus of mammalian sperm

by Toure, Aminata, Rode, Baptiste, Hunnicutt, Gary R., Escalier, Denise, Gacon, Gérard
Published in Biological chemistry (01.08.2011)

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common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

by Duriez, Bénédicte, Duquesnoy, Philippe, Escudier, Estelle, Bridoux, Anne-Marie, Escalier, Denise, Rayet, Isabelle, Marcos, Elisabeth, Vojtek, Anne-Marie, Bercher, Jean-François, Amselem, Serge
Published in Proceedings of the National Academy of Sciences - PNAS (27.02.2007)

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New Insights into the Assembly of the Periaxonemal Structures in Mammalian Spermatozoa

New Insights into the Assembly of the Periaxonemal Structures in Mammalian Spermatozoa

by Escalier, Denise
Published in Biology of reproduction (01.08.2003)

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The Testis Anion Transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse

The Testis Anion Transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse

by Touré, Aminata, Lhuillier, Pierre, Gossen, Jan A., Kuil, Cor W., Lhôte, David, Jégou, Bernard, Escalier, Denise, Gacon, Gérard
Published in Human molecular genetics (01.08.2007)

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Knockout mouse models of sperm flagellum anomalies

Knockout mouse models of sperm flagellum anomalies

by Escalier, Denise
Published in Human reproduction update (01.07.2006)

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XMR, a dual location protein in the XY pair and in its associated nucleolus in mouse spermatocytes

XMR, a dual location protein in the XY pair and in its associated nucleolus in mouse spermatocytes

by Escalier, Denise, Garchon, Henri-Jean
Published in Molecular reproduction and development (01.09.2005)

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Spermatid nuclear and sperm periaxonemal anomalies in the mouse Ube2b null mutant

Spermatid nuclear and sperm periaxonemal anomalies in the mouse Ube2b null mutant

by Escalier, Denise, Bai, Xi-Yuan, Silvius, Derek, Xu, Pin-Xian, Xu, Xin
Published in Molecular reproduction and development (01.07.2003)

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Sex-Specific Gene Expression During Meiotic Prophase I: Xlr (X Linked, Lymphocyte Regulated), Not Its Male Homologue Xmr (Xlr Related, Meiosis Regulated), Is Expressed in Mouse Oocytes

Sex-Specific Gene Expression During Meiotic Prophase I: Xlr (X Linked, Lymphocyte Regulated), Not Its Male Homologue Xmr (Xlr Related, Meiosis Regulated), Is Expressed in Mouse Oocytes

by Escalier, Denise, Eloy, Laure, Garchon, Henri-Jean
Published in Biology of reproduction (01.11.2002)

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Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

by KOTT, Esther, DUQUESNOY, Philippe, RIVES, Nathalie, MITCHELL, Valérie, DE BLIC, Jacques, COSTE, André, CLEMENT, Annick, ESCALIER, Denise, TOURE, Aminata, ESCUDIER, Estelle, AMSELEM, Serge, COPIN, Bruno, LEGENDRE, Marie, DASTOT-LE MOAL, Florence, MONTANTIN, Guy, JEANSON, Ludovic, TAMALET, Aline, PAPON, Jean-François, SIFFROI, Jean-Pierre
Published in American journal of human genetics (02.11.2012)

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Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

by Dirami, Thassadite, Rode, Baptiste, Jollivet, Mathilde, Da Silva, Nathalie, Escalier, Denise, Gaitch, Natacha, Norez, Caroline, Tuffery, Pierre, Wolf, Jean-Philippe, Becq, Frédéric, Ray, Pierre F., Dulioust, Emmanuel, Gacon, Gérard, Bienvenu, Thierry, Touré, Aminata
Published in American journal of human genetics (02.05.2013)

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New fibrous sheath anomaly in spermatozoa of men with consanguinity

New fibrous sheath anomaly in spermatozoa of men with consanguinity

by Escalier, Denise, Albert, Martine
Published in Fertility and sterility (01.07.2006)

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A 21-kDa Polypeptide Belonging to a New Family of Proteins Is Expressed in the Golgi Apparatus of Neural and Germ Cells

A 21-kDa Polypeptide Belonging to a New Family of Proteins Is Expressed in the Golgi Apparatus of Neural and Germ Cells

by Sabéran-Djoneidi, Délara, Picart, Renée, Escalier, Denise, Gelman, Michèle, Barret, Alain, Tougard, Claude, Glowinski, Jacques, Lévi-Strauss, Matthieu
Published in The Journal of biological chemistry (13.02.1998)

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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

by Blanchon, Sylvain, Legendre, Marie, Copin, Bruno, Duquesnoy, Philippe, Montantin, Guy, Kott, Esther, Dastot, Florence, Jeanson, Ludovic, Cachanado, Marine, Rousseau, Alexandra, Papon, Jean François, Beydon, Nicole, Brouard, Jacques, Crestani, Bruno, Deschildre, Antoine, Désir, Julie, Dollfus, Hélène, Leheup, Bruno, Tamalet, Aline, Thumerelle, Caroline, Vojtek, Anne-Marie, Escalier, Denise, Coste, André, de Blic, Jacques, Clément, Annick, Escudier, Estelle, Amselem, Serge
Published in Journal of medical genetics (01.06.2012)

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Human acrosome biogenesis: immunodetection of proacrosin in primary spermatocytes and of its partitioning pattern during meiosis

Human acrosome biogenesis: immunodetection of proacrosin in primary spermatocytes and of its partitioning pattern during meiosis

by ESCALIER, D, GALLO, J.-M, ALBERT, M, MEDURI, G, BERMUDEZ, D, DAVID, G, SCHREVEL, J
Published in Development (Cambridge) (01.11.1991)

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MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

by Coutton, Charles, Zouari, Raoudha, Abada, Farid, Ben Khelifa, Mariem, Merdassi, Ghaya, Triki, Chema, Escalier, Denise, Hesters, Laetitia, Mitchell, Valérie, Levy, Rachel, Sermondade, Nathalie, Boitrelle, Florence, Vialard, François, Satre, Véronique, Hennebicq, Sylviane, Jouk, Pierre-Simon, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.
Published in Human reproduction (Oxford) (01.08.2012)

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Morphological defects of sperm flagellum implicated in human male infertility

Morphological defects of sperm flagellum implicated in human male infertility

by Escalier, Denise, Touré, Aminata
Published in M.S. Médecine sciences (01.05.2012)

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Evaluation of sperm nuclear integrity in patients with different percentages of decapitated sperm in ejaculates

Evaluation of sperm nuclear integrity in patients with different percentages of decapitated sperm in ejaculates

by Rondanino, Christine, Duchesne, Véronique, Escalier, Denise, Jumeau, Fanny, Verhaeghe, France, Peers, Marie-Claire, Mitchell, Valérie, Rives, Nathalie
Published in Reproductive biomedicine online (01.07.2015)

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Impact of genetic engineering on the understanding of spermatogenesis

Impact of genetic engineering on the understanding of spermatogenesis

by Escalier, D
Published in Human reproduction update (01.03.2001)

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