Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.

Por Pinson, S, Yaouanq, J, Jouanolle, A M, Turlin, B, Plauchu, H
Publicado em 1998

Macular dystrophy of malattia leventinese. A 25 year follow up

Por ZECH, J., ZAOUCHE, S., MOURIER, F., PLAUCHU, H., GRANGE, J., TREPSAT, C.
Publicado em 1999

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

Por Abdalla, S, Geisthoff, U, Bonneau, D, Plauchu, H, McDonald, J, Kennedy, S, Faughnan, M, Letarte, M
Publicado em 2003

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Por Morle, L., Bozon, M., Alloisio, N., Latour, P., Vandenberghe, A., Plauchu, H., Collet, L., Edery, P., Godet, J., Lina-Granade, G.
Publicado em 2000

A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15

Por Morlé, L., Bozon, M., Zech, J.-C., Alloisio, N., Raas-Rothschild, A., Philippe, C., Lambert, J.-C., Godet, J., Plauchu, H., Edery, P.
Publicado em 2000

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Por Satre, V, Monnier, N, Berthoin, F, Ayuso, C, Joannard, A, Jouk, P S, Lopez-Pajares, I, Megabarne, A, Philippe, H J, Plauchu, H, Torres, M L, Lunardi, J
Publicado em 1999

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