Rezultati - Mireille Castanet

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  1. 1
    A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

    A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate od Mireille Castanet

    Izdano 2002
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  2. 2
    Spectrum of Human <i>Foxe1/TTF2</i> Mutations

    Spectrum of Human <i>Foxe1/TTF2</i> Mutations od Mireille Castanet, Michel Polak

    Izdano 2010
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  3. 3
    Congenital Hyperthyroidism: The Fetus as a Patient

    Congenital Hyperthyroidism: The Fetus as a Patient od Michel Polak, Isabelle Legac, Edith Vuillard, Jean Guibourdenche, Mireille Castanet, Dominique Luton

    Izdano 2006
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  4. 4
    Predictors of Autoimmune Hyperthyroidism Relapse in Children after Discontinuation of Antithyroid Drug Treatment

    Predictors of Autoimmune Hyperthyroidism Relapse in Children after Discontinuation of Antithyroid Drug Treatment od Florentia Kaguelidou, Corinne Alberti, Mireille Castanet, M. Guitteny, Paul Czernichow, Juliane Léger

    Izdano 2008
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  5. 5
    Familial Forms of Thyroid Dysgenesis among Infants with Congenital Hypothyroidism

    Familial Forms of Thyroid Dysgenesis among Infants with Congenital Hypothyroidism od Mireille Castanet, Stanislas Lyonnet, Catherine Bonaïti‐Pellié, Michel Polak, Paul Czernichow, Juliane Léger

    Izdano 2000
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  6. 6
    Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors

    Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors od Mireille Castanet, Michel Polak, Catherine Bonaïti‐Pellié, Stanislas Lyonnet, Paul Czernichow, Juliane Léger

    Izdano 2001
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  7. 7
    Experience with Intraamniotic Thyroxine Treatment in Nonimmune Fetal Goitrous Hypothyroidism in 12 Cases

    Experience with Intraamniotic Thyroxine Treatment in Nonimmune Fetal Goitrous Hypothyroidism in 12 Cases od Virginie Ribault, Mireille Castanet, Anne‐Marie Bertrand, Jean Guibourdenche, Edith Vuillard, Dominique Luton, Michel Polak

    Izdano 2009
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  8. 8
    The feasibility of fertility preservation in adolescents with Klinefelter syndrome

    The feasibility of fertility preservation in adolescents with Klinefelter syndrome od Nathalie Rives, Jean-Pierre Milazzo, Anne Perdrix, Mireille Castanet, Géraldine Joly‐Helas, L. Sibert, A. Bironneau, A. Way, Bertrand Macé

    Izdano 2013
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  9. 9
    A Novel<i>FOXE1</i>Mutation (R73S) in Bamforth–Lazarus Syndrome Causing Increased Thyroidal Gene Expression

    A Novel<i>FOXE1</i>Mutation (R73S) in Bamforth–Lazarus Syndrome Causing Increased Thyroidal Gene Expression od Aurore Carré, Rasha T. Hamza, Dulanjalee Kariyawasam, Loïc Guillot, Raphaël Teissier, Elodie Tron, Mireille Castanet, Corinne Dupuy, Mohamed El Kholy, Michel Polak

    Izdano 2013
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  10. 10
    <i>NKX2-1</i>mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome”

    <i>NKX2-1</i>mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome” od Loïc Guillot, Aurore Carré, Gabor Szinnai, Mireille Castanet, Elodie Tron, Francis Jaubert, Isabelle Broutin, François Counil, Delphine Feldmann, Annick Clement, Michel Polak, Ralph Epaud

    Izdano 2009
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  11. 11
    European cystic fibrosis bone mineralisation guidelines

    European cystic fibrosis bone mineralisation guidelines od Isabelle Sermet‐Gaudelus, Maria Luisa Bianchi, Michèle Garabédian, Robert M. Aris, Alison Morton, Dana S. Hardin, Sarah Elkin, Juliet Compston, S.P. Conway, Mireille Castanet, Susan Wolfe, Charles Haworth

    Izdano 2011
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  12. 12
    Early Effect of Supplemented Infant Formulae on Intestinal Biomarkers and Microbiota: A Randomized Clinical Trial

    Early Effect of Supplemented Infant Formulae on Intestinal Biomarkers and Microbiota: A Randomized Clinical Trial od Mireille Castanet, Christos Costalos, Nadja Haiden, Jean‐Michel Hascoët, Bernard Berger, Norbert Sprenger, Dominik Grathwohl, Harald Brüssow, Nanda de Groot, Philippe Steenhout, Sophie Pecquet, Jalil Benyacoub, Jean‐Charles Picaud

    Izdano 2020
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  13. 13
    Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations

    Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations od Helton Estrela Ramos, Aurore Carré, L. Chevrier, Gabor Szinnai, Elodie Tron, Taíse Lima Oliveira Cerqueira, Juliane Léger, S Cabrol, Olivia Puel, C Queinnec, Nicolás de Roux, Loïc Guillot, Mireille Castanet, Michel Polak

    Izdano 2014
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  14. 14
    Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism

    Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism od Jean‐Christophe Fournet, Christine Mayaud, Pascale de Lonlay, M S Gross-Morand, Virginie Verkarre, Mireille Castanet, Martine Devillers, Jacques Rahier, Françis Brunelle, Jean‐Jacques Robert, Claire Nihoul‐Feketé, Jean‐Marie Saudubray, Claudine Junien

    Izdano 2001
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  15. 15
    Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care

    Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care od Helton Estrela Ramos, Mélina Morandini, Aurore Carré, Elodie Tron, Corinne Floch, Laurent Mandelbrot, Nathalie Neri, Benoit De Sarcus, Albane Simon, Jean‐Paul Bonnefont, Jeanne Amiel, Isabelle Desguerre, Vassili Valayannopoulos, Mireille Castanet, Michel Polak

    Izdano 2010
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  16. 16
    Management of Graves’ Disease during Pregnancy: The Key Role of Fetal Thyroid Gland Monitoring

    Management of Graves’ Disease during Pregnancy: The Key Role of Fetal Thyroid Gland Monitoring od Dominique Luton, Isabelle Le Gac, Edith Vuillard, Mireille Castanet, Jean Guibourdenche, Michèle Noël, Marie‐Elisabeth Toubert, Juliane Léger, C. Boissinot, Marie‐Hélène Schlageter, Cathérine Garel, Brigitte Tébeka, Jean‐François Oury, Paul Czernichow, Michel Polak

    Izdano 2005
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  17. 17
    Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper

    Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper od Justine Bacchetta, Thomas Édouard, Gilles Laverny, Julie Bernardor, Aurélia Bertholet‐Thomas, Mireille Castanet, C. Garnier, Isabelle Gennero, J. Harambat, Alexandre Lapillonne, Arnaud Molin, C. Naud, Jean‐Pierre Salles, Sophie Laborie, Patrick Tounian, Agnès Linglart

    Izdano 2022
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  18. 18
    Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

    Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case od Aurore Carré, Gabor Szinnai, Mireille Castanet, Sylvia Sura‐Trueba, Elodie Tron, Isabelle Broutin, Pascal Barat, Cyril Goizet, Didier Lacombe, M.L. Moutard, C. Raybaud, C. Raynaud-Ravni, Serge Romana, H Ythier, Juliane Léger, Mirosław P. Polak

    Izdano 2009
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  19. 19
    Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

    Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans od Erik Schoenmakers, Maura Agostini, Catherine Mitchell, Nadia Schoenmakers, Laura V. Papp, Odelia Rajanayagam, Raja Padidela, Lourdes Ceron‐Gutierrez, Rainer Döffinger, Claudia Prevosto, Jian’an Luan, Sergio Montaño, Jun Lu, Mireille Castanet, Nicholas J. Clemons, Matthijs Groeneveld, Perrine Castets, Mahsa Karbaschi, Sri W. Aitken, Adrian Dixon, Jane Williams, Irene Campi, Margaret Blount, H. Burton, Francesco Muntoni, Dominic G. O’Donovan, Andrew Dean, A Jane Warren, Charlotte Brierley, David Baguley, Pascale Guicheney, Rebecca C. Fitzgerald, Alasdair Coles, Hill Gaston, Pamela Todd, Arne Holmgren, Kum Kum Khanna, Marcus S. Cooke, Robert K. Semple, David Halsall, Nicholas J. Wareham, John W. R. Schwabe, L. Grasso, Paolo Beck‐Peccoz, Arthur Ogunko, Mehul Dattani, Mark Gurnell, Krishna Chatterjee

    Izdano 2010
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