檢索結果 - Véronique David

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  1. 1
    Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

    Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients 由 Daniel Pineda‐Alvarez, Christèle Dubourg, Véronique David, Erich Roessler, Maximilian Muenke

    出版 2010
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  2. 2
    Holoprosencephaly: An update on cytogenetic abnormalities

    Holoprosencephaly: An update on cytogenetic abnormalities 由 Claude Bendavid, Valérie Dupé, Lucie Rochard, Isabelle Gicquel, Christèle Dubourg, Véronique David

    出版 2010
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  3. 3
    Holoprosencephaly

    Holoprosencephaly 由 Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Cathérine Henry, Sylvie Odent, Véronique David

    出版 2007
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  4. 4
    Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A Novel Mutation R124H of the Sodium/Iodide Symporter Gene and Review of Genotype-Phenotype Correlations in ITD

    Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A Novel Mutation R124H of the Sodium/Iodide Symporter Gene and Review of Genotype-Phenotype Correlations in I... 由 Gabor Szinnai, Shinji Kosugi, C. Derrien, Nadine Lucidarme, Véronique David, Paul Czernichow, Michel Polak

    出版 2006
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  5. 5
    Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives

    Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives 由 Romain Moirand, Anne‐Marie Jouanolle, Pierre Brissot, Jean‐Yves Le Gall, Véronique David, Yves Deugnier

    出版 1999
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  6. 6
    Recent advances in understanding inheritance of holoprosencephaly

    Recent advances in understanding inheritance of holoprosencephaly 由 Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé

    出版 2018
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  7. 7
    Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly

    Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly 由 Élisabeth Traiffort, Christèle Dubourg, Hélène Faure, Didier Rognan, Sylvie Odent, Marie‐Renée Durou, Véronique David, Martial Ruat

    出版 2004
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  8. 8
    Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis

    Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis 由 Dominique Guyader, Christian Jacquelinet, Romain Moirand, Bruno Turlin, Michel Mendler, J Chaperon, Véronique David, Pierre Brissot, Paul C. Adams, Yves Deugnier

    出版 1998
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  9. 9
    Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance

    Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance 由 Jacqueline Milet, Valérie Déhais, Catherine Bourgain, Anne Marie Jouanolle, Annick Mosser, M. Perrin, Jeff Morçet, Pierre Brissot, Véronique David, Yves Deugnier, Jean Mosser

    出版 2007
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  10. 10
    Analysis of genotype–phenotype correlations in human holoprosencephaly

    Analysis of genotype–phenotype correlations in human holoprosencephaly 由 Benjamin D. Solomon, Sandra Mercier, Jorge I. Vélez, Daniel Pineda‐Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Véronique David, Sylvie Odent, Erich Roessler, Maximilian Muenke

    出版 2010
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  11. 11
    Phenotypic and molecular variability of the holoprosencephalic spectrum

    Phenotypic and molecular variability of the holoprosencephalic spectrum 由 Leïla Lazaro, Christèle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie‐Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David, Sylvie Odent

    出版 2004
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  12. 12
    Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

    Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing 由 Charlotte Mouden, Christèle Dubourg, Wilfrid Carré, Sophie Rose, C. Quelin, Linda Akloul, Houda Hamdi‐Rozé, Géraldine Viot, H. Salhi, P. Darnault, S. Odent, Valérie Dupé, Véronique David

    出版 2016
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  13. 13
    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases 由 Laurent Pasquier, Pascale Marcorelles, Philippe Loget, Fanny Pelluard, Dominique Carles, Marie‐Josée Perez, Claude Bendavid, Céline de La Rochebrochard, M. Ferry, Véronique David, Sylvie Odent, Annie Laquerrière

    出版 2008
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  14. 14
    Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

    Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci 由 Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard‐Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid, Daniel Guerrier

    出版 2011
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  15. 15
    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome

    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome 由 Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jérôme Thiry, Claire Josse, Aimé Lumaka, Elise Brischoux‐Boucher, Christèle Dubourg, Véronique David, Laurent Pasquier, Anna Lehman, Karine Morcel, Daniel Guerrier, Vincent Bours

    出版 2020
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  16. 16
    Gender‐specific phenotypic expression and screening strategies in C282Y‐linked haemochromatosis: a study of 9396 French people

    Gender‐specific phenotypic expression and screening strategies in C282Y‐linked haemochromatosis: a study of 9396 French people 由 Yves Deugnier, Anne‐Marie Jouanolle, J Chaperon, Romain Moirand, Catherine Pithois, J. Meyer, Michel Pouchard, Bernard Lafraise, Alain Brigand, Céline Caserio‐Schoenemann, Jean Mosser, Paul C. Adams, Jean‐Yves Le Gall, Véronique David

    出版 2002
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  17. 17
    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases 由 Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo‐Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid, Sylvie Jaillard, Lucie Rochard, C. Quelin, Valérie Dupé, Véronique David, Sylvie Odent

    出版 2011
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  18. 18
    Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease

    Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease 由 Caroline Le Lan, Annick Mosser, Martine Ropert, Lénaı̈ck Détivaud, V. Loustaud‐Ratti, D Vital-Durand, L Roget, Edouard Bardou–Jacquet, Bruno Turlin, Véronique David, Olivier Loréal, Yves Deugnier, Pierre Brissot, Anne‐Marie Jouanolle

    出版 2011
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  19. 19
    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand... 由 Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel Pineda‐Alvarez, Felicitas Lacbawan, Nan Zhou, Maia V. Ouspenskaia, Aimée Paulussen, Hubert Smeets, Ute Hehr, Claude Bendavid, Sherri J. Bale, Sylvie Odent, Véronique David, Maximilian Muenke

    出版 2009
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  20. 20
    Targeted resequencing identifies <i>PTCH1</i> as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

    Targeted resequencing identifies <i>PTCH1</i> as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network 由 Nicolas Chassaing, Erica E. Davis, Kelly McKnight, Adrienne R. Niederriter, Alexandre Causse, Véronique David, Annaïck Desmaison, Sophie Lamarre, Catherine Vincent‐Delorme, Laurent Pasquier, Christine Coubes, Didier Lacombe, Massimiliano Rossi, Jean‐Louis Dufier, Hélène Dollfus, Josseline Kaplan, Nicholas Katsanis, Heather Etchevers, Stanislas Faguer, Patrick Calvas

    出版 2016
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