Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

بواسطة Langen, H., von Kietzell, D., Byrd, D., Arslan-Kirchner, M., Vester, U., Stuhrmann, M., Dörk, T., Saar, K., Reis, A., Schmidtke, J., Brodehl, J.
الحاوية / القاعدة Pediatr Nephrol (2000)

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

بواسطة Faivre, L, Collod-Beroud, G, Callewaert, B, Child, A, Binquet, C, Gautier, E, Loeys, B L, Arbustini, E, Mayer, K, Arslan-Kirchner, M, Stheneur, C, Kiotsekoglou, A, Comeglio, P, Marziliano, N, Wolf, J E, Bouchot, O, Khau-Van-Kien, P, Beroud, C, Claustres, M, Bonithon-Kopp, C, Robinson, P N, Adès, L, De Backer, J, Coucke, P, Francke, U, De Paepe, A, Jondeau, G, Boileau, C
منشور في 2009

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

بواسطة Faivre, L. , Collod-Beroud, G. , Loeys, B. L. , Child, A. , Binquet, C. , Gautier, E. , Callewaert, B. , Arbustini, E. , Mayer, K. , Arslan-Kirchner, M. , Kiotsekoglou, A. , Comeglio, P. , Marziliano, N. , Dietz, H. C. , Halliday, D. , Beroud, C. , Bonithon-Kopp, C. , Claustres, M. , Muti, C. , Plauchu, H. , Robinson, P. N. , Adès, L. C. , Biggin, A. , Benetts, B. , Brett, M. , Holman, K. J. , De Backer, J. , Coucke, P. , Francke, U. , De Paepe, A. , Jondeau, G. , Boileau, C. 
منشور في 2007