Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

por Donadille, Bruno, Houang, Muriel, Netchine, Irène, Siffroi, Jean-Pierre, Christin-Maitre, Sophie
Publicado 2018

SAT-LB075 Pituitary Function after Surgery for Non-Functioning Macroadenoma: A Tertiary Single Center Retrospective Cohort

por Mavromati, Maria, Momjian, Shahan, Mavrakanas, Thomas, de Kalbermatten, Bénédicte, Maitre, Sophie, Philippe, Jacques
Publicado 2019

Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life

por Sarfati, Julie, Vatier, Camille, Keller, Isabelle, Guéchot, Jérome, Bellanné-Chantelot, Christine, Christin-Maitre, Sophie
Publicado 2018

Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism

por Tetsi Nomigni, Milène, Ouzounian, Sophie, Benoit, Alice, Vadrot, Jacqueline, Tissier, Frédérique, Renouf, Sylvie, Lefebvre, Hervé, Christin-Maitre, Sophie, Louiset, Estelle
Publicado 2015

A randomized controlled trial of the safety and efficacy of a topical gentamicin–collagen sponge in diabetic patients with a mild foot ulcer infection

por Uçkay, Ilker, Kressmann, Benjamin, Di Tommaso, Sébastien, Portela, Marina, Alwan, Heba, Vuagnat, Hubert, Maître, Sophie, Paoli, Christophe, Lipsky, Benjamin A
Publicado 2018

Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism

por Nomigni, Milène Tetsi, Ouzounian, Sophie, Benoit, Alice, Vadrot, Jacqueline, Tissier, Frédérique, Renouf, Sylvie, Lefebvre, Hervé, Christin-Maitre, Sophie, Louiset, Estelle
Publicado 2015

Predictive score of sarcopenia occurrence one year after bariatric surgery in severely obese patients

por Voican, Cosmin Sebastian, Lebrun, Amandine, Maitre, Sophie, Lainas, Panagiotis, Lamouri, Karima, Njike-Nakseu, Micheline, Gaillard, Martin, Tranchart, Hadrien, Balian, Axel, Dagher, Ibrahim, Perlemuter, Gabriel, Naveau, Sylvie
Publicado 2018

Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency

por Eskenazi, Sarah, Bachelot, Anne, Hugon-Rodin, Justine, Plu-Bureau, Genevieve, Gompel, Anne, Catteau-Jonard, Sophie, Molina-Gomes, Denise, Dewailly, Didier, Dodé, Catherine, Christin-Maitre, Sophie, Touraine, Philippe
Publicado 2021

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

por 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
Publicado 2013

Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

por Caburet, Sandrine, Zavadakova, Petra, Ben-Neriah, Ziva, Bouhali, Kamal, Dipietromaria, Aurélie, Charon, Céline, Besse, Céline, Laissue, Paul, Chalifa-Caspi, Vered, Christin-Maitre, Sophie, Vaiman, Daniel, Levi, Giovanni, Veitia, Reiner A., Fellous, Marc
Publicado 2012

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

por 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
Publicado 2021

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

por 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
Publicado 2020

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

por Tucker, Elena J, Baker, Megan J, Hock, Daniella H, Warren, Julia T, Jaillard, Sylvie, Bell, Katrina M, Sreenivasan, Rajini, Bakhshalizadeh, Shabnam, Hanna, Chloe A, Caruana, Nikeisha J, Wortmann, Saskia B, Rahman, Shamima, Pitceathly, Robert D S, Donadieu, Jean, Alimi, Aurelia, Launay, Vincent, Coppo, Paul, Christin-Maitre, Sophie, Robevska, Gorjana, van den Bergen, Jocelyn, Kline, Brianna L, Ayers, Katie L, Stewart, Phoebe N, Stroud, David A, Stojanovski, Diana, Sinclair, Andrew H
Publicado 2022

OR12-3 Identification of Predictive Criteria for the Primary Bilateral Macronodular Adrenal Hyperplasia Gene ARMC5: A European Series of 352 Unselected Patients.

por Assié, Guillaume, Bertherat, Jérôme, Bonnet-Serrano, Fidéline, Borson-Chazot, Françoise, Bricaire, Léopoldine, Cavalcante, Isadora P, Chevalier, Nicolas, Christin-Maitre, Sophie, Espiard, Stéphanie, Fassnacht, Martin, Groussin, Lionel, Guignat, Laurence, Haissaguerre, Magalie, Jouinot, Anne, Jublanc, Christel, Kamenicky, Peter, Kroiss, Matthias, Lefebvre, Hervé, Libé, Rossella, Maione, Luigi, North, Marie-Odile, Pasmant, Eric, Perlemoine, Karine, Raffin-Sanson, Marie-Laure, Ragazzon, Bruno, Raverot, Gérald, Reincke, Martin, Tabarin, Antoine, Touraine, Philippe, Vaczlavik, Anna, Vaduva, Patricia, Vantyghem, Marie-Christine, Vatier, Camille, Bouys, Lucas
Publicado 2022

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

por Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, W H Irwin, Patin, Etienne, Rajpert-De Meyts, Ewa, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu
Publicado 2018

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

por 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, Iserin, Laurence, Lengliné, Hélène, Poujol-Robert, Armelle, Roulot, Dominique, Viala, Jerome, Albarel, Frederique, Bismuth, Elise, Bernard, Valérie, Bouvattier, Claire, Brac, Aude, Bretones, Patricia, Chabbert-Buffet, Nathalie, Chanson, Philippe, Coutant, Regis, de Warren, Marguerite, Demaret, Béatrice, Duranteau, Lise, Eustache, Florence, Gautheret, Lydie, Gelwane, Georges, Gourbesville, Claire, Grynberg, Mickaël, Gueniche, Karinne, Jorgensen, Carina, Kerlan, Veronique, Lebrun, Charlotte, Lefevre, Christine, Lorenzini, Françoise, Manouvrier, Sylvie, Pienkowski, Catherine, Reynaud, Rachel, Reznik, Yves, Siffroi, Jean-Pierre, Tabet, Anne-Claude, Tauber, Maithé, Vautier, Vanessa, Tauveron, Igor, Wambre, Sebastien, Zenaty, Delphine, Netchine, Irène, Polak, Michel, Touraine, Philippe, Carel, Jean-Claude, Christin-Maitre, Sophie, Léger, Juliane
Publicado 2022