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收藏MKRN3 Variants in Central Precocious Puberty as an Example of the Complexity to Classify Missense Variants in Imprinted Genes as PathogenicMKRN3变异在中央性性早熟中的复杂性：作为印记基因中错义变异分类为致病性的示例
Delcour, Clemence; Harbulot, Carole; Drira, Leila; Wagner Malher, Kathy; Zenaty, Delphine; Gelwane, George; Simon, Dominique; Amouyal, Melanie; Cartigny Maciejewski, Maryse; Bony, Helene; Cauliez, Axelle; Donzeau, Aurelie; Reynaud, Rachel; Brue Fabre, Catherine; Al-Amir Ahmad, Isam; Leger, Juliane; Carel, Jean-Claude; de Roux, Nicolas 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Lessons From Prospective Longitudinal Follow-up of a French APECED CohortHumbert, Linda; Proust-Lemoine, Emmanuelle; Dubucquoi, Sylvain; Kemp, Elisabeth Helen; Saugier-Veber, Pascale; Fabien, Nicole; Raymond-Top, Isabelle; Cardot-Bauters, Catherine; Carel, Jean-Claude; Cartigny, Maryse; Chabre, Olivier; Chanson, Philippe; Delemer, Brigitte; Do Cao, Christine; Guignat, Laurence; Kahn, Jean Emmanuel; Kerlan, Veronique; Lefebvre, Herve; Linglart, Agnes; Mallone, Roberto; Reynaud, Rachel; Sendid, Boualem; Souchon, Pierre-Francois; Touraine, Philippe; Wemeau, Jean-Louis; Vantyghem, Marie-Christine 分享 收藏 Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)Fiot, Elodie; Alauze, Bertille; Donadille, Bruno; Samara-Boustani, Dinane; Houang, Muriel; De Filippo, Gianpaolo; Bachelot, Anne; Delcour, Clemence; Beyler, Constance; Bois, Emilie; Bourrat, Emmanuelle; Quoc, Emmanuel Bui; Bourcigaux, Nathalie; Chaussain, Catherine; Cohen, Ariel; Cohen-Solal, Martine; Da Costa, Sabrina; Dossier, Claire; Ederhy, Stephane; Elmaleh, Monique; Iserin, Laurence; Lengline, Helene; Poujol-Robert, Armelle; Roulot, Dominique; Viala, Jerome; Albarel, Frederique; Bismuth, Elise; Bernard, Valerie; Bouvattier, Claire; Brac, Aude; Bretones, Patricia; Chabbert-Buffet, Nathalie; Chanson, Philippe; Coutant, Regis; de Warren, Marguerite; Demaret, Beatrice; Duranteau, Lise; Eustache, Florence; Gautheret, Lydie; Gelwane, Georges; Gourbesville, Claire; Grynberg, Mickael; Gueniche, Karinne; Jorgensen, Carina; Kerlan, Veronique; Lebrun, Charlotte; Lefevre, Christine; Lorenzini, Francoise; Manouvrier, Sylvie; Pienkowski, Catherine; Reynaud, Rachel; Reznik, Yves; Siffroi, Jean-Pierre; Tabet, Anne-Claude; Tauber, Maithe; Vautier, Vanessa; Tauveron, Igor; Wambre, Sebastien; Zenaty, Delphine; Netchine, Irene; Polak, Michel; Touraine, Philippe; Carel, Jean-Claude; Christin-Maitre, Sophie; Leger, Juliane 分享 收藏 Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 MutationsPassone, Caroline de Gouveia Buff; Vermillac, Gaelle; Staels, Willem; Besancon, Alix; Kariyawasam, Dulanjalee; Godot, Cecile; Lambe, Cecile; Talbotec, Cecile; Girard, Muriel; Chardot, Christophe; Berteloot, Laureline; Hachem, Taymme; Lapillonne, Alexandre; Poidvin, Amelie; Storey, Caroline; Neve, Mathieu; Stan, Cosmina; Dugelay, Emmanuelle; Fauret-Amsellem, Anne-Laure; Capri, Yline; Cave, Helene; Ybarra, Marina; Chandra, Vikash; Scharfmann, Raphael; Bismuth, Elise; Polak, Michel; Carel, Jean Claude; Pigneur, Benedicte; Beltrand, Jacques 分享 收藏 Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseasesKallali, Wafa; Messiaen, Claude; Saidi, 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; Leger, Juliane 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe ObesityCourbage, Sophie; Poitou, Christine; Le Beyec-Le Bihan, Johanne; Karsenty, Alexandra; Lemale, Julie; Pelloux, Veronique; Lacorte, Jean-Marc; Carel, Jean-Claude; Lecomte, Nathalie; Storey, Caroline; De Filippo, Gianpaolo; Coupaye, Muriel; Oppert, Jean-Michel; Tounian, Patrick; Clement, Karine; Dubern, Beatrice 分享 收藏 Prevalence and course of thyroid dysfunction in neonates at high risk of Graves' disease or with non-autoimmune hyperthyroidismBenlarbi, Hassina; Simon, Dominique; Rosenblatt, Jonathan; Dumaine, Cecile; de Roux, Nicolas; Chevenne, Didier; Storey, Caroline; Poidvin, Amelie; Martinerie, Laetitia; Carel, Jean-Claude; Leger, Juliane 分享 收藏 分享 收藏 SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axisSRY阴性46，XX睾丸/卵睾丸DSD: 长期结果和促性腺激素轴的早期阻断Lambert, Sophie; Peycelon, Matthieu; Samara-Boustani, Dinane; Hyon, Capucine; Dumeige, Laurence; Peuchmaur, Michel; Fiot, Elodie; Leger, Juliane; Simon, Dominique; Paye-Jaouen, Annabel; Bouligand, Jerome; Siffroi, Jean-Pierre; Carel, Jean-Claude; McElreavey, Ken; El Ghoneimi, Alaa; Brachet, Cecile; Bouvattier, Claire; Martinerie, Laetitia 分享 收藏 Low-dose IL-2 in children with recently diagnosed type 1 diabetes: a Phase I/II randomised, double-blind, placebo-controlled, dose-finding studyRosenzwajg, Michelle; Salet, Randa; Lorenzon, Roberta; Tchitchek, Nicolas; Roux, Alexandra; Bernard, Claude; Carel, Jean-Claude; Storey, Caroline; Polak, Michel; Beltrand, Jacques; Amouyal, Chloe; Hartemann, Agnes; Corbeau, Pierre; Vicaut, Eric; Bibal, Cecile; Bougneres, Pierre; Tran, Tu-Anh; Klatzmann, David 分享 收藏 分享 收藏 Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeMcElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G. G.; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C.; Shcherbak, Yuliya; Leger, Juliane; Sallai, Agnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S.; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; Globa, Evgenia; Brauner, Raja; Jauch, Ralf; Nef, Serge; Greenfield, Andy; Bashamboo, Anu 分享 收藏 Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsCohen, Enzo; Belkacem, Sabrina; Fedala, Soumeya; Collot, Nathalie; Khallouf, Eliane; Dastot, Florence; Polak, Michel; Duquesnoy, Philippe; Brioude, Frederic; Rose, Sophie; Viot, Geraldine; Soleyan, Aude; Carel, Jean-Claude; Sobrier, Marie-Laure; Chanson, Philippe; Gatelais, Frederique; Heinrichs, Claudine; Kaffel, Noureddine; Coutant, Regis; Erdeve, Senay Savas; Kurnaz, Erdal; Aycan, Zehra; Thalassinos, Caroline; Lyonnet, Stanislas; Siklar, Zeynep; Berberoglu, Merih; Brachet, Cecile; Amselem, Serge; Legendre, Marie 分享 收藏 
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