Alpha1 antitrypsin deficiency due to an homozygous PI Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression
Jouhadi, Zineb, Odou, Marie Francoise, Zerimech, Farid, Bousfiha, Ahmed Aziz, Mikou, Nabiha, Porchet, Nicole, Crepin, Michel, Najib, Jilali, Balduyck, Malika
Published in Respiratory medicine case reports (01.01.2018)
Published in Respiratory medicine case reports (01.01.2018)
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Serum Succinate/Fumarate Ratio in Patients With Paraganglioma/Pheochromocytoma Attending an Endocrine Oncogenetic Unit
Bancel, Léo-Paul, Masso, Vincent, Dessein, Anne-Frederique, Aubert, Sébastien, Leteurtre, Emmanuelle, Coppin, Lucie, Odou, Marie-Françoise, Cao, Christine Do, Cardot-Bauters, Catherine, Pigny, Pascal
Published in The journal of clinical endocrinology and metabolism (18.08.2023)
Published in The journal of clinical endocrinology and metabolism (18.08.2023)
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Serum succinate/fumarate ratio in paraganglioma/pheochromocytoma patients attending an endocrine oncogenetic unit
Bancel, Léo-Paul, Masso, Vincent, Dessein, Anne-Frederique, Aubert, Sébastien, Leteurtre, Emmanuelle, Coppin, Lucie, Odou, Marie-Françoise, Do Cao, Christine, Cardot-Bauters, Catherine, Pigny, Pascal
Published in The journal of clinical endocrinology and metabolism (01.03.2023)
Published in The journal of clinical endocrinology and metabolism (01.03.2023)
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Journal Article
Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants
Romanet, Pauline, Odou, Marie‐Françoise, North, Marie‐Odile, Saveanu, Alexandru, Coppin, Lucie, Pasmant, Eric, Mohamed, Amira, Goudet, Pierre, Borson‐Chazot, Françoise, Calender, Alain, Béroud, Christophe, Lévy, Nicolas, Giraud, Sophie, Barlier, Anne
Published in Human mutation (01.06.2019)
Published in Human mutation (01.06.2019)
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Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations
Jourdain, Anne‐Sophie, Petit, Florence, Odou, Marie‐Françoise, Balduyck, Malika, Brunelle, Perrine, Dufour, William, Boussion, Simon, Brischoux‐Boucher, Elise, Colson, Cindy, Dieux, Anne, Gérard, Marion, Ghoumid, Jamal, Giuliano, Fabienne, Goldenberg, Alice, Khau Van Kien, Philippe, Lehalle, Daphné, Morin, Gilles, Moutton, Sébastien, Smol, Thomas, Vanlerberghe, Clémence, Manouvrier‐Hanu, Sylvie, Escande, Fabienne
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population
Romanet, Pauline, Mohamed, Amira, Giraud, Sophie, Odou, Marie-Françoise, North, Marie-Odile, Pertuit, Morgane, Pasmant, Eric, Coppin, Lucie, Guien, Céline, Calender, Alain, Borson-Chazot, Françoise, Béroud, Christophe, Goudet, Pierre, Barlier, Anne
Published in The journal of clinical endocrinology and metabolism (01.03.2019)
Published in The journal of clinical endocrinology and metabolism (01.03.2019)
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Journal Article
Mesenteric fat as a source of C reactive protein and as a target for bacterial translocation in Crohn's disease
Peyrin-Biroulet, Laurent, Gonzalez, Florent, Dubuquoy, Laurent, Rousseaux, Christel, Dubuquoy, Caroline, Decourcelle, Cécilia, Saudemont, Alain, Tachon, Mickael, Béclin, Elodie, Odou, Marie-Françoise, Neut, Christel, Colombel, Jean-Frédéric, Desreumaux, Pierre
Published in Gut (01.01.2012)
Published in Gut (01.01.2012)
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Journal Article
Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review
Chevalier, Benjamin, Coppin, Lucie, Romanet, Pauline, Cuny, Thomas, Maïza, Jean-Christophe, Abeillon, Juliette, Forestier, Julien, Walter, Thomas, Gilly, Olivier, Le Bras, Maëlle, Smati, Sarra, Nunes, Marie Laure, Geslot, Aurore, Grunenwald, Solange, Mouly, Céline, Arnault, Gwenaelle, Wagner, Kathy, Koumakis, Eugénie, Cortet-Rudelli, Christine, Merlen, Émilie, Jannin, Arnaud, Espiard, Stéphanie, Morange, Isabelle, Baudin, Éric, Cavaille, Mathias, Tauveron, Igor, Teissier, Marie-Pierre, Borson-Chazot, Françoise, Mirebeau-Prunier, Delphine, Savagner, Frédérique, Pasmant, Éric, Giraud, Sophie, Vantyghem, Marie-Christine, Goudet, Pierre, Barlier, Anne, Cardot-Bauters, Catherine, Odou, Marie Françoise
Published in The journal of clinical endocrinology and metabolism (17.06.2024)
Published in The journal of clinical endocrinology and metabolism (17.06.2024)
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Value of Somatostatin Receptor PET/CT in Patients With MEN1 at Various Stages of Their Disease
Mennetrey, Clément, Le Bras, Maëlle, Bando-Delaunay, Aurélie, Al-Mansour, Laure, Haissaguerre, Magalie, Batisse-Lignier, Marie, Ouvrard, Eric, Ansquer, Catherine, Walter, Thomas, de Mestier, Louis, Kelly, Antony, Tlili, Ghoufrane, Giraud, Sophie, North, Marie-Odile, Odou, Marie-Françoise, Goichot, Bernard, Cuny, Thomas, Loundou, Anderson, Romanet, Pauline, Imperiale, Alessio, Taïeb, David
Published in The journal of clinical endocrinology and metabolism (01.05.2022)
Published in The journal of clinical endocrinology and metabolism (01.05.2022)
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MEN1 and the brain: Don’t just look only at the pituitary gland. A case report of anaplastic pleomorphic xanthoastrocytoma in a MEN1 patient, and systematic review
Jannin, Arnaud, Coppin, Lucie, Chevalier, Benjamin, Maurage, Claude-Alain, Odou, Marie Françoise, Bauters, Catherine Cardot
Published in Annales d'endocrinologie (01.08.2023)
Published in Annales d'endocrinologie (01.08.2023)
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Frequent Large Germline HRPT2 Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism
Bricaire, Léopoldine, Odou, Marie-Françoise, Cardot-Bauters, Catherine, Delemer, Brigitte, North, Marie-Odile, Salenave, Sylvie, Vezzosi, Delphine, Kuhn, Jean-Marc, Murat, Arnaud, Caron, Philippe, Sadoul, Jean-Louis, Silve, Caroline, Chanson, Philippe, Barlier, Anne, Clauser, Eric, Porchet, Nicole, Groussin, Lionel, the GTE Group
Published in The journal of clinical endocrinology and metabolism (01.02.2013)
Published in The journal of clinical endocrinology and metabolism (01.02.2013)
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Journal Article
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?
Coppin, Lucie, Giraud, Sophie, Pasmant, Eric, Lagarde, Arnaud, North, Marie-Odile, Le-Collen, Lauriane, Aubert, Valérie, Mougel, Grégory, Ladsous, Miriam, Louboutin, Alyzée, Brixi, Hedia, Haissaguerre, Magalie, Scheyer, Nicolas, Klein, Marc, Tabarin, Antoine, Delemer, Brigitte, Barlier, Anne, Odou, Marie-Françoise, Romanet, Pauline
Published in European journal of endocrinology (01.07.2022)
Published in European journal of endocrinology (01.07.2022)
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Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study
Marino, Patricia, Touzani, Rajae, Perrier, Lionel, Rouleau, Etienne, Kossi, Dede Sika, Zhaomin, Zou, Charrier, Nathanaël, Goardon, Nicolas, Preudhomme, Claude, Durand-Zaleski, Isabelle, Borget, Isabelle, Baffert, Sandrine
Published in European journal of human genetics : EJHG (01.03.2018)
Published in European journal of human genetics : EJHG (01.03.2018)
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Journal Article
Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?
Coppin, Lucie, Dufosse, Margaux, Romanet, Pauline, Giraud, Sophie, North, Marie-Odile, Cardot Bauters, Catherine, Borson-Chazot, Françoise, Duchesne, Laurence, Métallo, Mélanie, Lovecchio, Tonio, Barlier, Anne, Odou, Marie-Françoise
Published in European journal of endocrinology (01.01.2020)
Published in European journal of endocrinology (01.01.2020)
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Journal Article
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features
Le Collen, Lauriane, Barraud, Sara, Braconnier, Antoine, Coppin, Lucie, Zachar, Dominique, Boulagnon, Camille, Deguelte, Sophie, Souchon, Pierre François, Spodenkiewicz, Marta, Poirsier, Céline, Aubert, Sébastien, Odou, Marie Françoise, Delemer, Brigitte
Published in Endocrine (01.09.2021)
Published in Endocrine (01.09.2021)
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Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study
Thevenon, Julien, Bourredjem, Abderrahmane, Faivre, Laurence, Cardot-Bauters, Catherine, Calender, Alain, Murat, Arnaud, Giraud, Sophie, Niccoli, Patricia, Odou, Marie-Françoise, Borson-Chazot, Françoise, Barlier, Anne, Lombard-Bohas, Catherine, Clauser, Eric, Tabarin, Antoine, Parfait, Béatrice, Chabre, Olivier, Castermans, Emilie, Beckers, Albert, Ruszniewski, Philippe, Le Bras, Morgane, Delemer, Brigitte, Bouchard, Philippe, Guilhem, Isabelle, Rohmer, Vincent, Goichot, Bernard, Caron, Philippe, Baudin, Eric, Chanson, Philippe, Groussin, Lionel, Du Boullay, Hélène, Weryha, Georges, Lecomte, Pierre, Penfornis, Alfred, Bihan, Hélène, Archambeaud, Françoise, Kerlan, Véronique, Duron, Françoise, Kuhn, Jean-Marc, Vergès, Bruno, Rodier, Michel, Renard, Michel, Sadoul, Jean-Louis, Binquet, Christine, Goudet, Pierre
Published in Human molecular genetics (15.05.2013)
Published in Human molecular genetics (15.05.2013)
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Web Resource
Description of 22 new alpha-1 antitrypsin genetic variants
Renoux, Céline, Odou, Marie-Françoise, Tosato, Guillaume, Teoli, Jordan, Abbou, Norman, Lombard, Christine, Zerimech, Farid, Porchet, Nicole, Chapuis Cellier, Colette, Balduyck, Malika, Joly, Philippe
Published in Orphanet journal of rare diseases (17.09.2018)
Published in Orphanet journal of rare diseases (17.09.2018)
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