Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism von Xu, C., Lang‐Muritano, M., Phan‐Hug, F., Dwyer, A.A., Sykiotis, G.P., Cassatella, D., Acierno, J., Mohammadi, M., Pitteloud, N.

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P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients von Rosa, S., Duff, C., Meyer, M., Lang-Muritano, M., Balercia, G., Boscaro, M., Kemal Topaloglu, A., Mioni, R., Fallo, F., Zuliani, L., Mantero, F., Schoenle, E. J., Biason-Lauber, A.

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Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity von Biason-Lauber, A, Boehm, B, Lang-Muritano, M, Gauthier, B R, Brun, T, Wollheim, C B, Schoenle, E J

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Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study von Naamneh Elzenaty, Rawda, Martinez de Lapiscina, Idoia, Kouri, Chrysanthi, Sauter, Kay-Sara, Sommer, Grit, Castaño, Luis, Flück, Christa E

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A novel mutation inducing partial androgen–insensitivity syndrome with phenotypic diversity von GOBET, R., LANG‐MURITANO, M., STALLMACH, T., BIASON‐LAUBER, A.

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Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade von SCHOENLE, E. J, LANG-MURITANO, M, GSCHWEND, S, LAIMBACHER, J, MULLIS, P. E, TORRESANI, T, BIASON-LAUBER, A, MOLINARI, L

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Incidence of enteropathy‐associated T‐cell lymphoma in celiac disease: implications for children and adolescents with type 1 diabetes von Lang‐Muritano, M., Molinari, L., Dommann‐Scherrer, C., Schueler, G., Schoenle, E. J.

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Reply to comment on: Biason-Lauber A, Boehm B, Lang-Muritano M et al. (2005) Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell re... von Biason-Lauber, A., Boehm, B., Lang-Muritano, M., Gauthier, B. R., Brun, T., Wollheim, C. B., Schoenle, E. J.

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Loss of Kinase Activity in a Patient With Wolcott-Rallison Syndrome Caused By a Novel Mutation in the EIF2AK3 Gene von Biason-Lauber, Anna, Lang-Muritano, Mariarosaria, Vaccaro, Tindara, Schoenle, Eugen J

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Epidermolysis bullosa junctionalis progressiva in three siblings von BIRCHER, A.J., LANG‐MURITANO, M., PFALTZ, M., BRUCKNER‐TUDERMAN, L.

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7931 WBP11 as a Novel Candidate Gene for Congenital Hypopituitarism von Correa, F A, Boizot, A, Kolesinska, Z, Habibi, I, Zhai, J, Zouaghi, Y, Phan-Hug, F, l'Allemands, D, Antoniou, M C, Pignatelli, D, Lang-Muritano, M, Niedziela, M, Papadakis, G, Ameti, A, Niederlander, N J, Acierno, J S, Ternier, G, Giacobini, P, Santoni, F, Messina, A, Pitteloud, N

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Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism von Cotellessa, L, Marelli, F, Duminuco, P, Adamo, M, Papadakis, GE, Bartoloni, L, Sato, N, Lang-Muritano, M, Troendle, A, Dhillo, WS, Morelli, A, Guarnieri, G, Pitteloud, N, Persani, L, Bonomi, M, Giacobini, P, Vezzoli, V

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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures von Cassatella, D, Howard, SR, Acierno, JS, Xu, C, Papadakis, GE, Santoni, FA, Dwyer, AA, Santini, S, Sykiotis, GP, Chambion, C, Meylan, J, Marino, L, Favre, L, Li, J, Liu, X, Zhang, J, Bouloux, P-M, De Geyter, C, De Paepe, A, Dhillo, WS, Ferrara, J-M, Hauschild, M, Lang-Muritano, M, Lemke, JR, Fluck, C, Nemeth, A, Phan-Hug, F, Pignatelli, D, Popovic, V, Pekic, S, Quinton, R, Szinnai, G, I'Allemand, D, Konrad, D, Sharif, S, Iyidir, OT, Stevenson, BJ, Yang, H, Dunkel, L, Pitteloud, N

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Importance of Genetic Diagnosis of DAX-1 Deficiency: Example from a Large, Multigenerational Family von Ostermann, Sandrine, Salvi, Roberto, Lang-Muritano, Mariarosaria, Voirol, Marie-Jeanne, Puttinger, Rudolf, Gaillard, Rolf C., Schoenle, Eugen, Pralong, François P.

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Clinical, Genetic and Functional Characteristics of Three Novel CYP17A1 Mutations Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency von Rosa, S., Steigert, M., Lang-Muritano, M., l’Allemand, D., Schoenle, E.J., Biason-Lauber, A.

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A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17 beta-oestradiol von Illig, R, DeCampo, C, Lang-Muritano, M R, Prader, A, Torresani, T, Werder, E A, Willi, U, Schenkel, L

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Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants von Kouri, C, Sommer, G, Ahmed, F, Balsamo, A, Baronio, F, Bryce, J, Camats, N, Cetinkaya, S, Claahsen-van der Grinten, HL, Cools, M, Darendeliler, FF, Davies, JH, Fabbri-Scallet, H, Globa, E, Guerra, G, Guran, T, Hannema, S, Hiort, O, Janner, M, Kalinchenko, N, Lachlan, K, Kolesinska, Z, l'Allemand, D, Lang-Muritano, M, Lucas-Herald, A, Martin, IMD, Mazen, I, Moenig, I, Muhrer, J, Niedziela, M, Nordenstrom, A, Orman, B, Poyrazoglu, S, Tack, L, Tadokoro-Cuccaro, R, Wasniewska, M, Yavas, Z, Zelinska, N, Fluck, CE

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A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome von LANG-MURITANO, Mariarosaria, BIASON-LAUBER, Anna, GITZELMANN, Christopher, BELVILLE, Corinne, PICARD, Yves, SCHOENLE, Eugen J

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Aromatase deficiency due to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene von Hauri-Hohl, A, Meyer-Böni, M, Lang-Muritano, M, Hauri-Hohl, M, Schoenle, E J, Biason-Lauber, A

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Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) von Sahakitrungruang, T, Soccio, R E, Lang-Muritano, M, Walker, J M, Achermann, J C, Miller, W L

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