未登录 Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease Bidaud, C; Salomon, R; VanCamp, G; Pelet, A; Attie, T; Eng, C; Bonduelle, M; Amiel, J; NihoulFekete, C; Willems, PJ; Munnich, A; Lyonnet, S 分享 收藏
Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys Martinerie, Laetitia; Morel, Yves; Gay, Claire-Lise; Pienkowski, Catherine; de Kerdanet, Marc; Cabrol, Sylvie; Lecointre, Claudine; Coutant, Regis; Baron, Sabine; Colle, Michel; Brauner, Raja; Thibaud, Elisabeth; Leger, Juliane; Nihoul-Fekete, Claire; Bouvattier, Claire 分享 收藏
Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism Beltrand, Jacques; Caquard, Marylene; Arnoux, Jean-Baptiste; Laborde, Kathleen; Velho, Gilberto; Verkarre, Virginie; Rahier, Jacques; Brunelle, Francis; Nihoul-Fekete, Claire; Saudubray, Jean-Marie; Robert, Jean-Jacques; de Lonlay, Pascale 分享 收藏
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ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism Bellanne-Chantelot, C.; Saint-Martin, C.; Ribeiro, M-J; Vaury, C.; Verkarre, V.; Arnoux, J-B; Valayannopoulos, V.; Gobrecht, S.; Sempoux, C.; Rahier, J.; Fournet, J-C; Jaubert, F.; Aigrain, Y.; Nihoul-Fekete, C.; de Lonlay, P. 分享 收藏
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Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism Damaj, L.; le Lorch, M.; Verkarre, V.; Werl, C.; Hubert, L.; Nihoul-Fekete, C.; Aigrain, Y.; de Keyzer, Y.; Romana, S. P.; Bellanne-Chantelot, C.; de Lonlay, P.; Jaubert, F. 分享 收藏
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Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation Cretolle, C.; Pelet, A.; Sanlaville, D.; Zerah, A.; Amiel, J.; Jaubert, E.; Revillon, Y.; Baala, L.; Munnich, A.; Nihou-Fekete, C.; Lyonnet, S. 分享 收藏
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The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy:: a retrospective study involving 49 children Ribeiro, Maria-Joao; Boddaert, Nathalie; Bellanne-Chantelot, Christine; Bourgeois, Sandrine; Valayannopoulos, Vassili; Delzescaux, Thierry; Jaubert, Francis; Nihoul-Fekete, Claire; Brunelle, Francis; De Lonlay, Pascale 分享 收藏
Coexistence in the same family of both focal and diffuse forms of hyperinsulinism Valayannopoulos, Vassili; Vaxillaire, Martine; Aigrain, Yves; Jaubert, Francis; Bellanne-Chantelot, Christine; Ribeiro, Maria-Joao; Brunelle, Francis; Froguel, Philippe; Robert, Jean-Jacques; Polak, Michel; Nihoul-Fekete, Claire; de Lonlay, Pascale 分享 收藏
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Bilateral anorchia in infancy:: Occurence of micropenis and the effect of testosterone treatment Zenaty, D.; Dijoud, F.; Morel, Y.; Cabrol, S.; Mouriquand, P.; Nicolino, M.; Bouvatier, C.; Pinto, G.; Lecointre, C.; Pienkowski, C.; Soskin, S.; Bost, M.; Bertrand, A. M.; El-Ghoneimi, A.; Nihoul-Fekete, C.; Leger, J. 分享 收藏
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism Giurgea, Irina; Sempoux, Christine; Bellanne-Chantelot, Christine; Ribeiro, Maria; Hubert, Laurence; Boddaert, Nathalie; Saudubray, Jean-Marie; Robert, Jean-Jacques; Brunelle, Francis; Rahier, Jacques; Jaubert, Francis; Nihoul-Fekete, Claire; de Lonlay, Pascale 分享 收藏
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Congenital hyperinsulinism:: Pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion de Lonlay, P; Simon-Carre, A; Ribeiro, MJ; Boddaert, N; Giurgea, I; Laborde, K; Bellanné-Chantelot, C; Verkarre, V; Polak, M; Rahier, J; Syrota, A; Seidenwurm, D; Nihoul-Fékété, C; Robert, JJ; Brunelle, F; Jaubert, F 分享 收藏