Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Por Moghadaszadeh, B, Desguerre, I, Topaloglu, H, Muntoni, F, Pavek, S, Sewry, C, Mayer, M, Fardeau, M, Tomé, F M, Guicheney, P
Publicado em 1998

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Por Telvi, L, Ion, A, Carel, J C, Desguerre, I, Piraud, M, Boutin, A M, Feingold, J, Ponsot, G, Fellous, M, McElreavey, K
Publicado em 1996

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

Por des Portes, V, Pinard, J M, Smadja, D, Motte, J, Boespflüg-Tanguy, O, Moutard, M L, Desguerre, I, Billuart, P, Carrie, A, Bienvenu, T, Vinet, M C, Bachner, L, Beldjord, C, Dulac, O, Kahn, A, Ponsot, G, Chelly, J
Publicado em 1997

Neurodegeneration associated with genetic defects in phospholipase A(2)

Por Gregory, A, Westaway, S K., Holm, I E., Kotzbauer, P T., Hogarth, P, Sonek, S, Coryell, J C., Nguyen, T M., Nardocci, N, Zorzi, G, Rodriguez, D, Desguerre, I, Bertini, E, Simonati, A, Levinson, B, Dias, C, Barbot, C, Carrilho, I, Santos, M, Malik, I, Gitschier, J, Hayflick, S J.
Publicado em 2008

A second locus for Aicardi‐Goutières syndrome at chromosome 13q14–21

Por Ali, M, Highet, L J, Lacombe, D, Goizet, C, King, M D, Tacke, U, van der Knaap, M S, Lagae, L, Rittey, C, Brunner, H G, van Bokhoven, H, Hamel, B, Oade, Y A, Sanchis, A, Desguerre, I, Cau, D, Mathieu, N, Moutard, M L, Lebon, P, Kumar, D, Jackson, A P, Crow, Y J
Publicado em 2006