Software and database for the analysis of mutations in the human LDL receptor gene.

Por Varret, M, Rabès, J P, Collod-Béroud, G, Junien, C, Boileau, C, Béroud, C
Publicado em 1997

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

Por Collod-Béroud, G, Lackmy-Port-Lys, M, Jondeau, G, Mathieu, M, Maingourd, Y, Coulon, M, Guillotel, M, Junien, C, Boileau, C
Publicado em 1999

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Por Faivre, L, Gorlin, R, Wirtz, M, Godfrey, M, Dagoneau, N, Samples, J, Le Merrer, M, Collod-Beroud, G, Boileau, C, Munnich, A, Cormier-Daire, V
Publicado em 2003

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Por Collod-Béroud, G, Béroud, C, Adès, L, Black, C, Boxer, M, Brock, D J, Godfrey, M, Hayward, C, Karttunen, L, Milewicz, D, Peltonen, L, Richards, R I, Wang, M, Junien, C, Boileau, C
Publicado em 1997

Marfan Database (third edition): new mutations and new routines for the software.

Por Collod-Béroud, G, Béroud, C, Ades, L, Black, C, Boxer, M, Brock, D J, Holman, K J, de Paepe, A, Francke, U, Grau, U, Hayward, C, Klein, H G, Liu, W, Nuytinck, L, Peltonen, L, Alvarez Perez, A B, Rantamäki, T, Junien, C, Boileau, C
Publicado em 1998

The molecular genetics of Marfan syndrome and related disorders

Por Robinson, P N, Arteaga‐Solis, E, Baldock, C, Collod‐Béroud, G, Booms, P, De Paepe, A, Dietz, H C, Guo, G, Handford, P A, Judge, D P, Kielty, C M, Loeys, B, Milewicz, D M, Ney, A, Ramirez, F, Reinhardt, D P, Tiedemann, K, Whiteman, P, Godfrey, M
Publicado em 2006

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

Por 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
Publicado em 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

Por 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. 
Publicado em 2007