Výsledky vyhledávání - Jean‐Pierre Siffroi

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  1. 1
    Connexin43 Gene Expression and Regulation in the Rodent Seminiferous Epithelium

    Connexin43 Gene Expression and Regulation in the Rodent Seminiferous Epithelium Autor Catherine Batias, Jean‐Pierre Siffroi, Patrick Fénichel, Georges Pointis, Dominique Segretain

    Vydáno 2000
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  2. 2
    Identification of transcripts by macroarrays, RT–PCR and in situ hybridization in human ejaculate spermatozoa

    Identification of transcripts by macroarrays, RT–PCR and in situ hybridization in human ejaculate spermatozoa Autor Jean‐Pierre Dadoune, André Pawlak, Marie‐françoise Alfonsi, Jean Pierre Siffroi

    Vydáno 2005
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  3. 3
    In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene

    In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene Autor Christine Gicquel, Véronique Gaston, Jacqueline Mandelbaum, Jean‐Pierre Siffroi, Antoine Flahault, Yves Le Bouc

    Vydáno 2003
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  4. 4
    Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

    Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation Autor Cynthia Frapsauce, Célia Ravel, Marie Legendre, Mathilde Sibony, Jacqueline Mandelbaum, Bruno Donadille, John C. Achermann, Jean Pierre Siffroi, Sophie Christin‐Maître

    Vydáno 2011
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  5. 5
    Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts

    Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts Autor Célia Ravel, Sandra Chantot‐Bastaraud, Clémentine Chalmey, Luis B. Barreiro, Isabelle Aknin‐Seifer, Jérôme Pfeffer, Isabelle Berthaut, E. Emmanuelle Mathieu, Jacqueline Mandelbaum, Jean‐Pierre Siffroi, Ken McElreavey, Anu Bashamboo

    Vydáno 2009
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  6. 6
    Mutations in the protamine 1 gene associated with male infertility

    Mutations in the protamine 1 gene associated with male infertility Autor Célia Ravel, Sandra Chantot‐Bastaraud, Brahim El Houate, Isabelle Berthaut, Lieve Verstraete, V. de Larouzière, Diana Lourenço, Anne Dumaine, J.-M. Antoine, Jacqueline Mandelbaum, Jean Pierre Siffroi, Ken McElreavey

    Vydáno 2007
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  7. 7
    Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

    Sex chromosome mosaicism in males carrying Y chromosome long arm deletions Autor Jean Pierre Siffroi, Corine Le Bourhis, Csilla Krausz, Sandrine Barbaux, Lluı́s Quintana-Murci, S. Kanafani, Hassan Rouba, Louis Bujan, G. Bourrouillou, I. Seifer, D Boucher, Marc Fellous, Ken McElreavey, J. P. Dadoune

    Vydáno 2000
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  8. 8
    Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)

    Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD) Autor Capucine Hyon, Sandra Chantot‐Bastaraud, Radu Harbuz, Rakia Bhouri, Nicolas Perrot, Matthieu Peycelon, Mathilde Sibony, Sandra Rojo, Xavier Piguel, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Alain Kitzis, Ken McElreavey, Jean‐Pierre Siffroi, Anu Bashamboo

    Vydáno 2015
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  9. 9
    Functional Human Beige Adipocytes From Induced Pluripotent Stem Cells

    Functional Human Beige Adipocytes From Induced Pluripotent Stem Cells Autor Anne-Claire Guénantin, Nolwenn Briand, Émilie Capel, Florent Dumont, Romain Morichon, C. Provost, Francesca Stillitano, Dorota Jeziorowska, Jean‐Pierre Siffroi, Roger J. Hajjar, Bruno Fève, Jean‐Sébastien Hulot, Philippe Collas, Jacqueline Capeau, Corinne Vigouroux

    Vydáno 2017
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  10. 10
    Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

    Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1 Autor Anu Bashamboo, Bruno Ferraz‐de‐Souza, Diana Lourenço, Lin Lin, Neil J. Sebire, Debbie Montjean, Joëlle Bignon-Topalovic, Jacqueline Mandelbaum, Jean‐Pierre Siffroi, Sophie Christin‐Maître, Uppala Radhakrishna, Hassan Rouba, Célia Ravel, Jacob-S. Seeler, John C. Achermann, Ken McElreavey

    Vydáno 2010
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  11. 11
    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 Autor Esther Kott, Philippe Duquesnoy, Bruno Copin, Marie Legendre, Florence Dastot‐Le Moal, Guy Montantin, Ludovic Jeanson, Aline Tamalet, Jean‐François Papon, Jean‐Pierre Siffroi, Nathalie Rives, Valérie Mitchell, J. de Blic, A. Coste, Annick Clément, Denise Escalier, Aminata Touré, Estelle Escudier, Serge Amselem

    Vydáno 2012
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  12. 12
    A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility<sup>1</sup>

    A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility<sup>1</sup> Autor Csilla Krausz, Lluís Quintana‐Murci, Sandrine Barbaux, Jean‐Pierre Siffroi, Hassan Rouba, D Delafontaine, Nicole Therville, G Arvis, J.-M. Antoine, E. Erdei, J.P. Taar, Attila Tar, Éric Jeandidier, Ghislaine Plessis, Thomas Bourgeron, J. P. Dadoune, Marc Fellous, Ken McElreavey

    Vydáno 1999
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  13. 13
    <i>SRY</i>‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

    <i>SRY</i>‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis Autor Sophie Lambert, Matthieu Peycelon, Dinane Samara‐Boustani, Capucine Hyon, Laurence Dumeige, Michel Peuchmaur, Elodie Fiot, Juliane Léger, Dominique Simon, Annabel Paye‐Jaouen, Jérôme Bouligand, Jean‐Pierre Siffroi, Jean‐Claude Carel, Ken McElreavey, Alaa El‐Ghoneimi, Cécile Brachet, Claire Bouvattier, Lætitia Martinerie

    Vydáno 2020
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  14. 14
    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders Autor Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot‐Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean‐Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne

    Vydáno 2013
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  15. 15
    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences Autor Solveig Heide, Sandra Chantot‐Bastaraud, Boris Keren, Madeleine D. Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S. Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Éloïse Giabicani, Jean‐Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

    Vydáno 2017
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  16. 16
    Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

    Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children Autor Anu Bashamboo, Caroline Eozénou, Anne Jørgensen, Joëlle Bignon-Topalovic, Jean‐Pierre Siffroi, Capucine Hyon, Attila Tar, Péter Nagy, J. Sólyom, Zita Halász, Annnabel Paye-Jaouen, Sophie Lambert, David Rodriguez‐Buritica, Rita Bertalan, Lætitia Martinerie, Ewa Rajpert‐De Meyts, John C. Achermann, Ken McElreavey

    Vydáno 2018
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  17. 17
    Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

    Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia Autor Marjorie Whitfield, Lucie Thomas, Émilie Béquignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, S. Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot‐Bastaraud, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean‐Pierre Siffroi, Jean‐François Papon, Estelle Escudier, Serge Amselem, Valérie Mitchell, Aminata Touré, Marie Legendre

    Vydáno 2019
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  18. 18
    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient Autor Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    Vydáno 2012
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  19. 19
    Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

    Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up? Autor Laurence Dumeige, Livie Chatelais, Claire Bouvattier, Marc de Kerdanet, Capucine Hyon, Blandine Esteva, Dinane Samara‐Boustani, Delphine Zénaty, Marc Nicolino, S. Baron, Chantal Metz-Blond, Catherine Naud-Saudreau, Clémentine Dupuis, Juliane Léger, Jean‐Pierre Siffroi, Bruno Donadille, Sophie Christin‐Maître, Jean‐Claude Carel, R. Coutant, Lætitia Martinerie

    Vydáno 2018
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  20. 20
    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders Autor Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron, Delphine Bouteiller, Aurélie Gennetier, Richard Delorme, Pauline Chaste, Jean‐Pierre Siffroi, Sandra Chantot‐Bastaraud, B Benyahia, Oriane Trouillard, Gudrun Nygren, Svenny Kopp, Maria Johansson, Maria Råstam, Lydie Bürglen, Eric Leguern, Alain Verloès, Marion Leboyer, Alexis Brice, Christopher Gillberg, Catalina Betancur

    Vydáno 2009
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