Gain and loss of function mutations of ataxin-7 cause cilia pathology in mouse and zebrafish models

Por Karam, A, Ferreira, R, Weber, C, Morlé, L, Vermot, J, Trottier, Y
Publicado no Cilia (2015)

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

Por Wilmotte, R, Maréchal, J, Morlé, L, Baklouti, F, Philippe, N, Kastally, R, Kotula, L, Delaunay, J, Alloisio, N
Publicado em 1993

Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton.

Por Lorenzo, F, Dalla Venezia, N, Morlé, L, Baklouti, F, Alloisio, N, Ducluzeau, M T, Roda, L, Lefrançois, P, Delaunay, J
Publicado em 1994

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants...

Por Alloisio, N, Morlé, L, Maréchal, J, Roux, A F, Ducluzeau, M T, Guetarni, D, Pothier, B, Baklouti, F, Ghanem, A, Kastally, R
Publicado em 1991

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

Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe).

Por Morlé, L, Roux, A F, Alloisio, N, Pothier, B, Starck, J, Denoroy, L, Morlé, F, Rudigoz, R C, Forget, B G, Delaunay, J
Publicado em 1990

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