Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus

Por Comeglio, P, Evans, A L, Brice, G, Cooling, R J, Child, A H
Publicado em 2002

Muscle fibrillin deficiency in Marfan's syndrome myopathy

Por Behan, W, Longman, C, Petty, R, Comeglio, P, Child, A, Boxer, M, Foskett, P, Harriman, D
Publicado em 2003

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

Por Evans, A, Bell, R, Brice, G, Comeglio, P, Lipede, C, Jeffery, S, Mortimer, P, Sarfarazi, M, Child, A
Publicado em 2003

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