Mireille Castanet : rechercher sur Z-Library

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 432 KB

english, 2015

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome”

Loïc Guillot, Aurore Carré, Gabor Szinnai, Mireille Castanet, Elodie Tron, Francis Jaubert, Isabelle Broutin, François Counil, Delphine Feldmann, Annick Clement, Michel Polak, Ralph Epaud

Journal:

Human Mutation

Année:

2010

Langue:

english

Fichier:

PDF, 619 KB

english, 2010

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis

Aurore Carré, Mireille Castanet, Sylvia Sura-Trueba, Gabor Szinnai, Guy Van Vliet, Delphine Trochet, Jeanne Amiel, Juliane Léger, Paul Czernichow, Virginie Scotet, Michel Polak

Journal:

Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 482 KB

english, 2007

Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes

Castanet, Mireille, Sura-Trueba, Sylvia, Chauty, Anne, Carré, Aurore, de Roux, Nicolas, Heath, Simon, Léger, Juliane, Lyonnet, Stanislas, Czernichow, Paul, Polak, Michel

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 141 KB

english, 2004

Update on Cystic Fibrosis-Related Bone Disease: A Special Focus on Children

Isabelle Sermet-Gaudelus, Mireille Castanet, George Retsch-Bogart, Robert M. Aris

Journal:

Paediatric Respiratory Reviews

Année:

2009

Langue:

english

Fichier:

PDF, 238 KB

english, 2009

Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism: Association with a Reduction to Homozygosity of a Mutation in ABCC8 or KCNJ11

Jean-Christophe Fournet, Christine Mayaud, Pascale de Lonlay, Marie-Sylvie Gross-Morand, Virginie Verkarre, Mireille Castanet, Martine Devillers, Jacques Rahier, Francis Brunelle, Jean-Jacques Robert,

Journal:

The American Journal of Pathology

Année:

2001

Langue:

english

Fichier:

PDF, 201 KB

english, 2001

European cystic fibrosis bone mineralisation guidelines

Isabelle Sermet-Gaudelus, Maria Luisa Bianchi, Michèle Garabédian, Robert M. Aris, Alison Morton, Dana S. Hardin, Sarah L. Elkin, Juliet E. Compston, Steven P. Conway, Mireille Castanet, Susan Wolfe,

Journal:

Journal of Cystic Fibrosis

Année:

2011

Langue:

english

Fichier:

PDF, 150 KB

english, 2011

Hes1 Is Required for Appropriate Morphogenesis and Differentiation during Mouse Thyroid Gland Development

Carre, Aurore, Rachdi, Latif, Tron, Elodie, Richard, Bénédicte, Castanet, Mireille, Schlumberger, Martin, Bidart, Jean-Michel, Szinnai, Gabor, Polak, Michel, Nguyen, Hang

Journal:

PLoS ONE

Année:

2011

Langue:

english

Fichier:

PDF, 2.95 MB

english, 2011

Lightwood Syndrome Revisited with a Novel Mutation in CYP24 and Vitamin D Supplement Recommendations

Castanet, Mireille, Mallet, Eric, Kottler, Marie-Laure

Journal:

The Journal of Pediatrics

Année:

2013

Langue:

english

Fichier:

PDF, 476 KB

english, 2013

Management of Graves’ Disease during Pregnancy: The Key Role of Fetal Thyroid Gland Monitoring

Luton, Dominique, Le Gac, Isabelle, Vuillard, Edith, Castanet, Mireille, Guibourdenche, Jean, Noel, Michèle, Toubert, Marie-Elisabeth, Léger, Juliane, Boissinot, Christine, Schlageter, Marie-Hélène, G

Journal:

Polak, Michel, Legac, Isabelle, Vuillard, Edith, Guibourdenche, Jean, Castanet, Mireille, Luton, Dominique

Année:

2005

Langue:

english

Fichier:

PDF, 514 KB

english, 2005

A Novel FOXE1 Mutation (R73S) in Bamforth–Lazarus Syndrome Causing Increased Thyroidal Gene Expression

Carré, Aurore, Hamza, Rasha T., Kariyawasam, Dulanjalee, Guillot, Loïc, Teissier, Raphaël, Tron, Elodie, Castanet, Mireille, Dupuy, Corinne, El Kholy, Mohamed, Polak, Michel

Journal:

Thyroid

Année:

2014

Langue:

english

Fichier:

PDF, 348 KB

english, 2014

New Cases of Isolated Congenital Central Hypothyroidism Due to Homozygous Thyrotropin Beta Gene Mutations: A Pitfall to Neonatal Screening

Ramos, Helton E., Labedan, Isabelle, Carré, Aurore, Castanet, Mireille, Guemas, Isabelle, Tron, Elodie, Madhi, Fouad, Delacourt, Christophe, Maciel, Rui M.B., Polak, Michel

Journal:

Thyroid

Année:

2010

Langue:

english

Fichier:

PDF, 2.89 MB

english, 2010

Congenital Hyperthyroidism: The Fetus as a Patient

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 72 KB

english, 2006

Clinical Description of Infants with Congenital Hypothyroidism and Iodide Organification Defects

Cavarzere, Paolo, Castanet, Mireille, Polak, Michel, Raux-Demay, Marie-Charles, Cabrol, Sylvie, Carel, Jean Claude, L&eacute, ger, Juliane, Czernichow, Paul

Journal:

Castanet, Mireille, Marinovic, Daniela, Polak, Michel, Léger, Juliane

Année:

2008

Langue:

english

Fichier:

PDF, 216 KB

english, 2008

Epidemiology of Thyroid Dysgenesis: The Familial Component

Journal:

Ramos, Helton Estrela, Dias da Silva, Magnus R�gios, Carr�, Aurore, Silva Jr., Joaquim Cust�dio, Paninka, Rolf Matias, Oliveira, Taise Lima, Tron, Elodie, Castanet, Mireille, Polak, Michel

Année:

2010

Langue:

english

Fichier:

PDF, 388 KB

english, 2010

Molecular Insights into the Possible Role of Kir4.1 and Kir5.1 in Thyroid Hormone Biosynthesis

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 704 KB

english, 2015

Molecular Mechanisms of Thyroid Dysgenesis

Polak, Michel, Sura-Trueba, Sylvia, Chauty, Anne, Szinnai, Gabor, Carr&eacute, , Aurore, Castanet, Mireille

Journal:

Beltrand, Jacques, Guillemin-Crepon, Sophie, Castanet, Mireille, Peuchmaur, Michel, Czernichow, Paul, Levy-Marchal, Claire

Année:

2004

Langue:

english

Fichier:

PDF, 91 KB

english, 2004

Insulin Allergy and Extensive Lipoatrophy in Child with Type 1 Diabetes

Journal:

Castanet, Mireille, Polak, Michel

Année:

2006

Langue:

english

Fichier:

PDF, 349 KB

english, 2006

Spectrum of Human Foxe1/TTF2 Mutations

Journal:

Castanet, Mireille, Lyonnet, Stanislas, Bonaïti-Pellié, Catherine, Polak, Michel, Czernichow, Paul, Léger, Juliane

Année:

2010

Langue:

english

Fichier:

PDF, 499 KB

english, 2010

Familial Forms of Thyroid Dysgenesis among Infants with Congenital Hypothyroidism

Journal:

Boston Medical and Surgical Journal

Année:

2000

Langue:

english

Fichier:

PDF, 155 KB

english, 2000

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

Cerqueira, Taise Lima Oliveira, Carré, Aurore, Chevrier, Lucie, Szinnai, Gabor, Tron, Elodie, Léger, Juliane, Cabrol, Sylvie, Queinnec, Chrystelle, De Roux, Nicolas, Castanet, Mireille, Polak, Michel,

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 618 KB

english, 2015

Experience with Intraamniotic Thyroxine Treatment in Nonimmune Fetal Goitrous Hypothyroidism in 12 Cases

Ribault, Virginie, Castanet, Mireille, Bertrand, Anne-Marie, Guibourdenche, Jean, Vuillard, Edith, Luton, Dominique, Polak, Michel

Journal:

Castanet, Mireille, Leenhardt, Laurence, Léger, Juliane, Simon-Carré, Aurore, Lyonnet, Stanislas, Pelet, Anna, Czernichow, Paul, Polak, Michel

Année:

2009

Langue:

english

Fichier:

PDF, 130 KB

english, 2009

Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases

Journal:

Pediatric Research

Année:

2005

Langue:

english

Fichier:

PDF, 309 KB

english, 2005

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

Castanet, Mireille, Polak, Michel, Bonaïti-Pellié, Catherine, Lyonnet, Stanislas, Czernichow, Paul, Léger, Juliane

Journal:

Goullé, Jean-Pierre, Le Roux, Pascal, Castanet, Mireille, Mahieu, Loïc, Guyet-Job, Stéphanie, Guerbet, Michel

Année:

2001

Langue:

english

Fichier:

PDF, 250 KB

english, 2001

Metallic Profile of Whole Blood and Plasma in a Series of 99 Healthy Children

Journal:

Journal of Analytical Toxicology

Année:

2015

Langue:

english

Fichier:

PDF, 175 KB

english, 2015

High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis

Guilmin-Crépon, Sophie, Garel, Catherine, Baumann, Clarisse, Brémond-Gignac, Dominique, Bailleul-Forestier, Isabelle, Magnier, Suzel, Castanet, Mireille, Czernichow, Paul, Van Den Abbeele, Thierry, Lé

Journal:

Pediatric Research

Année:

2006

Langue:

english

Fichier:

PDF, 277 KB

english, 2006

Maternal Isodisomy for Chromosome 9 Causing Homozygosity for a Novel FOXE1 Mutation in Syndromic Congenital Hypothyroidism

Castanet, Mireille, Mallya, Uma, Agostini, Maura, Schoenmakers, Erik, Mitchell, Catherine, Demuth, Stephanie, Raymond, F. Lucy, Schwabe, John, Gurnell, Mark, Chatterjee, V. Krishna

Journal:

Kaguelidou, Florentia, Alberti, Corinne, Castanet, Mireille, Guitteny, Marie-Aline, Czernichow, Paul, Léger, Juliane

Année:

2010

Langue:

english

Fichier:

PDF, 273 KB

english, 2010

Predictors of Autoimmune Hyperthyroidism Relapse in Children after Discontinuation of Antithyroid Drug Treatment

Journal: