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Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-106
By:
- Donadille, Bruno;
- D'Anella, Pascal;
- Auclair, Martine;
- Uhrhammer, Nancy;
- Sorel, Marc;
- Grigorescu, Romulus;
- Ouzounian, Sophie;
- Cambonie, Gilles;
- Boulot, Pierre;
- Laforêt, Pascal;
- Carbonne, Bruno;
- Christin-Maitre, Sophie;
- Bignon, Yves-Jean;
- Vigouroux, Corinne
Publication type:
Article
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Published in:
2013
By:
- Donadille, Bruno;
- D'Anella, Pascal;
- Auclair, Martine;
- Uhrhammer, Nancy;
- Sorel, Marc;
- Grigorescu, Romulus;
- Ouzounian, Sophie;
- Cambonie, Gilles;
- Boulot, Pierre;
- Laforêt, Pascal;
- Carbonne, Bruno;
- Christin-Maitre, Sophie;
- Bignon, Yves-Jean;
- Vigouroux, Corinne
Publication type:
journal article
Focus on Liver Function Abnormalities in Patients With Turner Syndrome: Risk Factors and Evaluation of Fibrosis Risk.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 9, p. 2255, doi. 10.1210/clinem/dgad108
By:
- Bourcigaux, Nathalie;
- Dubost, Emma;
- Buzzi, Jean-Claude;
- Donadille, Bruno;
- Corpechot, Christophe;
- Poujol-Robert, Armelle;
- Christin-Maitre, Sophie
Publication type:
Article
How can we make pregnancy safe for women with Turner syndrome?
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 100, doi. 10.1002/ajmg.c.31682
By:
- Donadille, Bruno;
- Bernard, Valérie;
- Christin‐Maitre, Sophie
Publication type:
Article
Ketoconazole in Cushing's Disease: Is It Worth a Try?
Published in:
2014
By:
- Castinetti, Frederic;
- Guignat, Laurence;
- Giraud, Pauline;
- Muller, Marie;
- Kamenicky, Peter;
- Drui, Delphine;
- Caron, Philippe;
- Luca, Fiorina;
- Donadille, Bruno;
- Vantyghem, Marie Christine;
- Bihan, Helene;
- Delemer, Brigitte;
- Raverot, Gerald;
- Motte, Emmanuelle;
- Philippon, Melanie;
- Morange, Isabelle;
- Conte-Devolx, Bernard;
- Quinquis, Laurent;
- Martinie, Monique;
- Vezzosi, Delphine
Publication type:
Journal Article
Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real‐life experience from a national reference network.
Published in:
Diabetes, Obesity & Metabolism, 2022, v. 24, n. 8, p. 1565, doi. 10.1111/dom.14726
By:
- Mosbah, Héléna;
- Vantyghem, Marie‐Christine;
- Nobécourt, Estelle;
- Andreelli, Fabrizio;
- Archambeaud, Francoise;
- Bismuth, Elise;
- Briet, Claire;
- Cartigny, Maryse;
- Chevalier, Benjamin;
- Donadille, Bruno;
- Daguenel, Anne;
- Fichet, Mathilde;
- Gautier, Jean‐François;
- Janmaat, Sonja;
- Jéru, Isabelle;
- Legagneur, Carole;
- Leguier, Lysiane;
- Maitre, Julie;
- Mongeois, Elise;
- Poitou, Christine
Publication type:
Article
Management of Cushing’s Syndrome due to Ectopic Adrenocorticotropin Secretion with 1,Ortho-1, Para′-Dichloro-Diphenyl-Dichloro-Ethane: Findings in 23 Patients from a Single Center.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 2, p. 537, doi. 10.1210/jc.2009-1317
By:
- Donadille, Bruno;
- Groussin, Lionel;
- Waintrop, Charlotte;
- Abbas, Halim;
- Tenenbaum, Florence;
- Dugué, Marie-Annick;
- Coste, Joël;
- Bertagna, Xavier;
- Bertherat, Jérôme
Publication type:
Article
Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4540, doi. 10.1210/jc.2009-0186
By:
- Aboura, Azzedine;
- Dupas, Claire;
- Tachdjian, Gérard;
- Portnoï, Marie-France;
- Bourcigaux, Nathalie;
- Dewailly, Didier;
- Frydman, René;
- Fauser, Bart;
- Ronci-Chaix, Nathalie;
- Donadille, Bruno;
- Bouchard, Philippe;
- Christin-Maitre, Sophie
Publication type:
Article
New Metabolic Phenotypes in Laminopathies: LMNA Mutations in Patients with Severe Metabolic Syndrome.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 12, p. 4835, doi. 10.1210/jc.2007-0654
By:
- Decaudain, Aurélie;
- Vantyghem, Marie-Christine;
- Guerci, Bruno;
- Hécart, Annie-Claude;
- Auclair, Martine;
- Reznik, Yves;
- Narbonne, Hervé;
- Ducluzeau, Pierre-Henri;
- Donadille, Bruno;
- Lebbé, Céleste;
- Béréziat, Véronique;
- Capeau, Jacqueline;
- Lascols, Olivier;
- Vigourou, Corinne
Publication type:
Article
Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.
Published in:
European Journal of Endocrinology, 2022, v. 187, n. 6, p. 873, doi. 10.1530/EJE-22-0593
By:
- Karila, Daphné;
- Donadille, Bruno;
- Léger, Juliane;
- Bouvattier, Claire;
- Bachelot, Anne;
- Kerlan, Veronique;
- Catteau-Jonard, Sophie;
- Salenave, Sylvie;
- Albarel, Frédérique;
- Briet, Claire;
- Coutant, Regis;
- Brac De La Perriere, Aude;
- Valent, Alexander;
- Siffroi, Jean-Pierre;
- Christin-Maitre, Sophie
Publication type:
Article
Transition of care for young adult patients with Turner syndrome.
Published in:
European Journal of Endocrinology, 2019, v. 180, n. 1, p. R1, doi. 10.1530/EJE-18-0238
By:
- Bernard, Valérie;
- Donadille, Bruno;
- Le Poulennec, Tiphaine;
- Nedelcu, Mariana;
- Martinerie, Laetitia;
- Christin-Maitre, Sophie
Publication type:
Article
Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?
Published in:
European Journal of Endocrinology, 2018, v. 179, n. 3, p. 181, doi. 10.1530/EJE-18-0309
By:
- Dumeige, Laurence;
- Chatelais, Livie;
- Bouvattier, Claire;
- De Kerdanet, Marc;
- Hyon, Capucine;
- Esteva, Blandine;
- Samara-Boustani, Dinane;
- Zenaty, Delphine;
- Nicolino, Marc;
- Baron, Sabine;
- Metz-Blond, Chantal;
- Naud-Saudreau, Catherine;
- Dupuis, Clémentine;
- Léger, Juliane;
- Siffroi, Jean-Pierre;
- Donadille, Bruno;
- Christin-Maitre, Sophie;
- Carel, Jean-Claude;
- Coutant, Regis;
- Martinerie, Laetitia
Publication type:
Article
Cardiovascular findings and management in Turner syndrome: insights from a French cohort.
Published in:
European Journal of Endocrinology, 2012, v. 167, n. 4, p. 517, doi. 10.1530/EJE-12-0434
By:
- Donadille, Bruno;
- Rousseau, Alexandra;
- Zenaty, Delphine;
- Cabrol, Sylvie;
- Courtillot, Carine;
- Samara-Boustani, Dinane;
- Salenave, Sylvie;
- Monnier-Cholley, Laurence;
- Meuleman, Catherine;
- Jondeau, Guillaume;
- Iserin, Laurence;
- Duranteau, Lise;
- Cabanes, Laure;
- Bourcigaux, Nathalie;
- Bonnet, Damien;
- Bouchard, Philippe;
- Chanson, Philippe;
- Polak, Michel;
- Touraine, Philippe;
- Lebouc, Yves
Publication type:
Article
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.
Published in:
2016
By:
- Bernard, Valérie;
- Donadille, Bruno;
- Zenaty, Delphine;
- Courtillot, Carine;
- Salenave, Sylvie;
- de la Perrière, Aude Brac;
- Albarel, Frédérique;
- Fèvre, Anne;
- Kerlan, Véronique;
- Brue, Thierry;
- Delemer, Brigitte;
- Borson-Chazot, Françoise;
- Care, Jean-Claude l;
- Chanson, Philippe;
- Léger, Juliane;
- Touraine, Philippe;
- Christin-Maitre, Sophie;
- Brac de la Perrière, Aude;
- Carel, Jean-Claude;
- for CMERC Center for Rare Disease
Publication type:
journal article
Molecular and Cellular Bases of Lipodystrophy Syndromes.
Published in:
Frontiers in Endocrinology, 2022, v. 12, p. 1, doi. 10.3389/fendo.2021.803189
By:
- Zammouri, Jamila;
- Vatier, Camille;
- Capel, Emilie;
- Auclair, Martine;
- Storey-London, Caroline;
- Bismuth, Elise;
- Mosbah, Héléna;
- Donadille, Bruno;
- Janmaat, Sonja;
- Fève, Bruno;
- Jéru, Isabelle;
- Vigouroux, Corinne
Publication type:
Article
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Published in:
2022
By:
- Fiot, Elodie;
- Alauze, Bertille;
- Donadille, Bruno;
- Samara-Boustani, Dinane;
- Houang, Muriel;
- De Filippo, Gianpaolo;
- Bachelot, Anne;
- Delcour, Clemence;
- Beyler, Constance;
- Bois, Emilie;
- Bourrat, Emmanuelle;
- Bui Quoc, Emmanuel;
- Bourcigaux, Nathalie;
- Chaussain, Catherine;
- Cohen, Ariel;
- Cohen-Solal, Martine;
- Da Costa, Sabrina;
- Dossier, Claire;
- Ederhy, Stephane;
- Elmaleh, Monique
Publication type:
journal article
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.
Published in:
2021
By:
- Kallali, Wafa;
- Messiaen, Claude;
- Saïdi, Roumaisah;
- Lessim, Soucounda;
- Viaud, Magali;
- Dulon, Jerome;
- Nedelcu, Mariana;
- Samara, Dinane;
- Houang, Muriel;
- Donadille, Bruno;
- Courtillot, Carine;
- de Filippo, GianPaolo;
- Carel, Jean-Claude;
- Christin-Maitre, Sophie;
- Touraine, Philippe;
- Netchine, Irene;
- Polak, Michel;
- Léger, Juliane
Publication type:
journal article
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Published in:
Cells (2073-4409), 2020, v. 9, n. 3, p. 765, doi. 10.3390/cells9030765
By:
- Mosbah, Héléna;
- Vatier, Camille;
- Boccara, Franck;
- Jéru, Isabelle;
- Lascols, Olivier;
- Vantyghem, Marie-Christine;
- Fève, Bruno;
- Donadille, Bruno;
- Sarrazin, Elisabeth;
- Benabbou, Sophie;
- Inamo, Jocelyn;
- Ederhy, Stéphane;
- Cohen, Ariel;
- Neraud, Barbara;
- Richard, Pascale;
- Picard, Fabien;
- Christin-Maitre, Sophie;
- Redheuil, Alban;
- Wahbi, Karim;
- Vigouroux, Corinne
Publication type:
Article
Executive functioning in adolescents and adults with Silver-Russell syndrome.
Published in:
PLoS ONE, 2023, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0279745
By:
- Burgevin, Mélissa;
- Lacroix, Agnès;
- Ollivier, Fanny;
- Bourdet, Karine;
- Coutant, Régis;
- Donadille, Bruno;
- Faivre, Laurence;
- Manouvrier-Hanu, Sylvie;
- Petit, Florence;
- Thauvin-Robinet, Christel;
- Toutain, Annick;
- Netchine, Irène;
- Odent, Sylvie
Publication type:
Article
Cortisol and Aldosterone Responses to Hypoglycemia and Na Depletion in Women With Non-Classic 21-Hydroxylase Deficiency.
Published in:
2019
By:
- Kamenický, Peter;
- Blanchard, Anne;
- Lamaziere, Antonin;
- Piedvache, Céline;
- Donadille, Bruno;
- Duranteau, Lise;
- Bry, Hélène;
- Gautier, Jean-François;
- Salenave, Sylvie;
- Raffin-Sanson, Marie-Laure;
- Genc, Seray;
- Pietri, Laurence;
- Christin-Maitre, Sophie;
- Thomas, Julien;
- Lorthioir, Aurelien;
- Azizi, Michel;
- Chanson, Philippe;
- Le Bouc, Yves;
- Brailly-Tabard, Sylvie;
- Young, Jacques
Publication type:
journal article

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