Rezultati - Caroline Kannengiesser

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  1. 1
    Management of suspected monogenic lung fibrosis in a specialised centre

    Management of suspected monogenic lung fibrosis in a specialised centre od Raphaël Borie, Caroline Kannengiesser, Flore Sicre de Fontbrune, Laurent Gouya, Nadia Nathan, Bruno Crestani

    Izdano 2017
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  2. 2
    The genetics of interstitial lung diseases

    The genetics of interstitial lung diseases od Raphaël Borie, Pierre Le Guen, Mada Ghanem, Camille Taillé, Clairelyne Dupin, Philippe Dieudé, Caroline Kannengiesser, Bruno Crestani

    Izdano 2019
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  3. 3
    PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor

    PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor od Agnès Chompret, Caroline Kannengiesser, Michel Barrois, Philippe Terrier, Philippe Dahan, Thomas Tursz, Gilbert Lenoir, Brigitte Bressac–de Paillerets

    Izdano 2003
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  4. 4
    Iron refractory iron deficiency anemia

    Iron refractory iron deficiency anemia od Luigia De Falco, Mayka Sánchez, Laura Silvestri, Caroline Kannengiesser, Martina U. Muckenthaler, Achille Iolascon, Laurent Gouya, Clara Camaschella, C. Beaumont

    Izdano 2013
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  5. 5
    Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

    Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia od Laura Silvestri, Flavia Guillem, Alessia Pagani, Antonella Nai, Claire Oudin, Muriel Silva, Fabienne Toutain, Caroline Kannengiesser, Carole Beaumont, Clara Camaschella, Bernard Grandchamp

    Izdano 2009
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  6. 6
    HNF1α mutations are present in half of clinically defined MODY patients in South-Brazilian individuals

    HNF1α mutations are present in half of clinically defined MODY patients in South-Brazilian individuals od Jorge de Faria Maraschin, Caroline Kannengiesser, Nádia Murussi, Nicole Campagnolo, Luís Henrique Santos Canani, Jorge Luiz Gross, Gilberto Velho, Bernard Grandchamp, Sandra Pinho Silveiro

    Izdano 2008
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  7. 7
    A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload

    A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload od Caroline Kannengiesser, A.-M. Jouanolle, Gilles Hetet, Annick Mosser, Françoise Muzeau, Dominique Henry, Edouard Bardou‐Jacquet, M. Mornet, P. Brissot, Yves Deugnier, Bernard Grandchamp, C. Beaumont

    Izdano 2009
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  8. 8
    A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene

    A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene od Bernard Grandchamp, Gilles Hetet, Caroline Kannengiesser, Claire Oudin, Carole Beaumont, Sylvie Rodrigues-Ferreira, Robert Amson, Adam Telerman, Peter Brønnum Nielsen, E. Kohne, Christina Balser, H. Heimpel

    Izdano 2011
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  9. 9
    Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation)

    Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation) od Cécile Picard, Guillaume Thouvenin, Caroline Kannengiesser, J.‐C. Dubus, Nadia Jeremiah, Frédéric Rieux‐Laucat, Bruno Crestani, Alexandre Bélot, Françoise Thivolet-Béjui, Véronique Secq, Christelle Ménard, Martine Reynaud‐Gaubert, Philippe Reix

    Izdano 2016
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  10. 10
    Genetic landscape of adult Langerhans cell histiocytosis with lung involvement

    Genetic landscape of adult Langerhans cell histiocytosis with lung involvement od Fanélie Jouenne, Sylvie Chevret, Emmanuelle Bugnet, Emmanuelle Clappier, Gwenaël Lorillon, Véronique Meignin, Aurélie Sadoux, Shannon Cohen, Alain Haziot, Alexandre How‐Kit, Caroline Kannengiesser, Célèste Lebbé, Dominique Gossot, Samia Mourah, Abdellatif Tazi

    Izdano 2019
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  11. 11
    Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)

    Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update) od Dirk Roos, Douglas B. Kuhns, Anne Maddalena, Jacinta Bustamante, Caroline Kannengiesser, Martin de Boer, Karin van Leeuwen, Mustafa Yavuz Köker, Baruch Wolach, Joachim Roesler, Harry L. Malech, Steven M. Holland, John I. Gallin, Marie José Stasia

    Izdano 2010
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  12. 12
    Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis

    Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis od Caroline Kannengiesser, Raphaël Borie, Christelle Ménard, Marion Réocreux, Patrick Nitschké, Steven Gazal, Hervé Mal, Camille Taillé, Jacques Cadranel, Hilario Nunès, Dominique Valeyre, J.-F. Cordier, Isabelle Callebaut, Cathérine Boileau, Vincent Cottin, Bernard Grandchamp, Patrick Revy, Bruno Crestani

    Izdano 2015
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  13. 13
    Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

    Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia od Caroline Kannengiesser, Mayka Sánchez, Marion Sweeney, Gilles Hetet, Briedgeen Kerr, Erica L. Moran, J. L. Fuster Soler, Karim Maloum, Thomas Matthes, Caroline Oudot, Anne‐Sophie Lascaux, Corinne Pondarré, Julián Sevilla, Sudharma Vidyatilake, C. Beaumont, Bernard Grandchamp, Alison May

    Izdano 2011
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  14. 14
    Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

    Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients od Isabelle Callebaut, Rozenn Joubrel, Serge Pissard, Caroline Kannengiesser, V. Gérolami, Cécile Ged, E. Cadet, François Cartault, C. Ka, Isabelle Gourlaouen, Lénaïck Gourhant, Claire Oudin, Michel Goossens, Bernard Grandchamp, Hubert de Verneuil, Jacques Rochette, Claude Férec, Gérald Le Gac

    Izdano 2014
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  15. 15
    The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population

    The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population od Raphaël Borie, Bruno Crestani, Philippe Dieudé, Hilario Nunès, Yannick Allanore, Caroline Kannengiesser, Paolo Airò, Marco Matucci‐Cerinic, B. Wallaert, Dominique Israëł-Biet, J. Cadranel, Vincent Cottin, Steven Gazal, Anna L. Peljto, John Varga, David A. Schwartz, Dominique Valeyre, Bernard Grandchamp

    Izdano 2013
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  16. 16
    Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

    Severe hematologic complications after lung transplantation in patients with telomerase complex mutations od Raphaël Borie, Caroline Kannengiesser, Sandrine Hirschi, Jérôme Le Pavec, Hervé Mal, Emmanuel Bergot, S. Jouneau, Jean‐Marc Naccache, Patrick Revy, David Boutboul, Régis Peffault de la Tour, Lidwine Wémeau-Stervinou, F. Philit, Jean-François Cordier, Gabriel Thabut, Bruno Crestani, Vincent Cottin

    Izdano 2014
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  17. 17
    Functional and Clinical Impact of Novel<i>Tmprss6</i>Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies

    Functional and Clinical Impact of Novel<i>Tmprss6</i>Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies od Luigia De Falco, Laura Silvestri, Caroline Kannengiesser, Erica L. Moran, Claire Oudin, Marco Rausa, Mariasole Bruno, Jessica Aranda, Bienvenida Argilés, İdil Yenicesu, María Falcón‐Rodríguez, Ebru Yılmaz-Keskin, Ülker Koçak, Carole Beaumont, Clara Camaschella, Achille Iolascon, Bernard Grandchamp, Mayka Sánchez

    Izdano 2014
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  18. 18
    Mutation in human <i>CLPX</i> elevates levels of <i>δ-</i> aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

    Mutation in human <i>CLPX</i> elevates levels of <i>δ-</i> aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria od Yvette Y. Yien, Sarah Ducamp, Lisa N. van der Vorm, Julia R. Kardon, Hana Manceau, Caroline Kannengiesser, Hector A. Bergonia, Martin D. Kafina, Zoubida Karim, Laurent Gouya, Tania A. Baker, Hervé Puy, John D. Phillips, Gaël Nicolas, Barry H. Paw

    Izdano 2017
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  19. 19
    European Respiratory Society statement on familial pulmonary fibrosis

    European Respiratory Society statement on familial pulmonary fibrosis od Raphaël Borie, Caroline Kannengiesser, Katerina M. Antoniou, Francesco Bonella, Bruno Crestani, Aurélie Fabre, Antoine Froidure, Liam Galvin, Matthias Griese, Jan C. Grutters, María Molina‐Molina, Venerino Poletti, Antje Prasse, Elisabetta Renzoni, Jasper van der Smagt, Coline H.M. van Moorsel

    Izdano 2022
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  20. 20
    Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

    Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations od Sarah Ducamp, Caroline Kannengiesser, Mohamed Touati, Loïc Garçon, Agnès Guerci‐Bresler, Jean François Guichard, Christiane Vermylen, Joaquim Dochir, Hélène A. Poirel, Fanny Fouyssac, L Mansuy, Geneviève Leroux, G. Tertian, Robert Girot, H. Heimpel, Thomas Matthes, Neila Talbi, Jean‐Charles Deybach, Carole Beaumont, Hervé Puy, Bernard Grandchamp

    Izdano 2011
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