Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 von Ribeiro, Maria Letı́cia, Alloisio, Nicole, Almeida, Helena, Gomes, Clara, Texier, Pascale, Lemos, Carlos, Mimoso, Gabriela, Morlé, Laurette, Bey-Cabet, Faı̈za, Rudigoz, René-Charles, Delaunay, Jean, Tamagnini, Gabriel

Volltext

Transmission génétique de la cataracte congénitale von BEBY, F, MORLE, L, MICHON, L, BOZON, M, EDERY, P, BURILLON, C, DENIS, Ph

Volltext

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss von Morlé, Laurette, Bozon, Muriel, Alloisio, Nicole, Latour, Philippe, Vandenberghe, Antoon, Plauchu, Henri, Collet, Lionel, Edery, Patrick, Godet, Jacqueline, Lina-Granade, Geneviève

Volltext

Hereditary spherocytosis: from clinical to molecular defects von Iolascon, A, Miraglia del Giudice, E, Perrotta, S, Alloisio, N, Morle, L, Delaunay, J

Volltext

Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss von Alloisio, Nicole, Morlé, Laurette, Bozon, Muriel, Godet, Jacqueline, Verhoeven, Kristien, Van Camp, Guy, Plauchu, Henri, Muller, Philippe, Collet, Lionel, Lina-Granade, Geneviève

Volltext

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis von Miraglia del Giudice, Emanuele, Francese, Matteo, Nobili, Bruno, Morlé, Laurette, Cutillo, Stefano, Delaunay, Jean, Perrotta, Silverio

Volltext

Gain and loss of function mutations of ataxin-7 cause cilia pathology in mouse and zebrafish models von Karam, A, Ferreira, R, Weber, C, Morlé, L, Vermot, J, Trottier, Y

Volltext

Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio von RANDON, J., MIRAGLIA DEL GIUDICE, E., BOZON, M., PERROTTA, S., DE VIVO, M., IOLASCON, A., DELAUNAY, J., MORLE, L.

Volltext

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis von Maillet, Philippe, Alloisio, Nicole, Morlé, Laurette, Delaunay, Jean

Volltext

The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon von Magnani, Dario, Morlé, Laurette, Hasenpusch-Theil, Kerstin, Paschaki, Marie, Jacoby, Monique, Schurmans, Stéphane, Durand, Bénédicte, Theil, Thomas

Volltext

A Deletional Frameshift Mutation in Protein 4.2 Gene (Allele 4.2 Lisboa) Associated With Hereditary Hemolytic Anemia von Hayette, S., Dhermy, D., Dos Santos, M.-E., Bozon, M., Drenckhahn, D., Alloisio, N., Texier, P., Delaunay, J., Morlέ, L.

Volltext

A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15 von Morlé, L., Bozon, M., Zech, J.-C., Alloisio, N., Raas-Rothschild, A., Philippe, C., Lambert, J.-C., Godet, J., Plauchu, H., Edery, P.

Volltext

Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton von Lorenzo, F, Dalla Venezia, N, Morlé, L, Baklouti, F, Alloisio, N, Ducluzeau, M T, Roda, L, Lefrançois, P, Delaunay, J

Volltext

Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis von Kanzaki, Akio, Hayette, Sandrine, Morlé, Laurette, Inoue, Fumihide, Matsuyama, Reiko, Inoue, Takafumi, Yawata, Ayumi, Wada, Hideho, Vallier, Agnes, Alloisio, Nicole, Yawata, Yoshihito, Delaunay, Jean

Volltext

SpαV/41 : a common spectrin polymorphism at the αIV-αV domain junction : relevance to the expression level of hereditary elliptocytosis due to α-spectrin variants located in trans... von ALLOISIO, N, MORLE, L, DELAUNAY, J, MARECHAL, J, ROUX, A.-F, DUCLUZEAU, M.-T, GUETARNI, D, POTHIER, B, BAKLOUTI, F, GHANEM, A, KASTALLY, R

Volltext

Molecular Analysis of Hereditary Elliptocytosis With Reduced Protein 4.1 in the French Northern Alps von Feddal, S., Brunet, G., Roda, L., Chabanis, S., Alloisio, N., Morle, L., Ducluzeau, M.-T., Marehal, J., Robert, J.-M., Jr, E.J. Benz, Delaunay, J., Baklouti, F.

Volltext

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14 von ZECH, J.-C, MORLE, L, PLAUCHU, H, VINCENT, P, ALLOISIO, N, BOZON, M, GONNET, C, MILAZZO, S, GRANGE, J.-D, TREPSAT, C, GODET, J

Volltext

Les surdités génétiques : première cause de surdité de perception de l’enfant von Lina-Granade, G, Morlé, L, Alloisio, N, Edery, P, Plauchu, H, Truy, E, Disant, F, Collet, L

Volltext

Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain von Morle, L, Morle, F, Roux, AF, Godet, J, Forget, BG, Denoroy, L, Garbarz, M, Dhermy, D, Kastally, R, Delaunay, J

Volltext

The Heterozygous Form of 4.1(-) Hereditary Elliptocytosis [the 4.1(-) Trait] von Alloisio, N., Morlé, L., Dorléac, E., Gentilhomme, O., Bachir, D., Guetarni, D., Colonna, P., Bost, M., Zouaoui, Z., Roda, L., Roussel, D., Delaunay, J.

Volltext