Coffin-Lowry syndrome: clinical and molecular features

door Hanauer, A, Young, I
Gepubliceerd in 2002

The glyceraldehyde 3 phosphate dehydrogenase gene family: structure of a human cDNA and of an X chromosome linked pseudogene; amazing complexity of the gene family in mouse.

door Hanauer, A, Mandel, J L
Gepubliceerd in 1984

Presence of a TaqI polymorphism in the human glutamate dehydrogenase (GLUD) gene on chromosome 10.

door Hanauer, A, Mattei, M G, Mandel, J L
Gepubliceerd in 1987

Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.

door Oudet, C, Heilig, R, Hanauer, A, Mandel, J L
Gepubliceerd in 1991

Detailed ordering of markers localizing to the Xq26-Xqter region of the human X chromosome by the use of an interspecific Mus spretus mouse cross.

door Avner, P, Amar, L, Arnaud, D, Hanauer, A, Cambrou, J
Gepubliceerd in 1987

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.

door Fujita, R, Hanauer, A, Sirugo, G, Heilig, R, Mandel, J L
Gepubliceerd in 1990

Isolation and characterization of cDNA clones for human skeletal muscle alpha actin.

door Hanauer, A, Levin, M, Heilig, R, Daegelen, D, Kahn, A, Mandel, J L
Gepubliceerd in 1983

The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

door Hanauer, A, Chery, M, Fujita, R, Driesel, A J, Gilgenkrantz, S, Mandel, J L
Gepubliceerd in 1990

Actin-like sequences are present on human X and Y chromosomes.

door Heilig, R, Hanauer, A, Grzeschik, K H, Hors-Cayla, M C, Mandel, J L
Gepubliceerd in 1984

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

door Jacquot, S, Merienne, K, De Cesare, D, Pannetier, S, Mandel, J L, Sassone-Corsi, P, Hanauer, A
Gepubliceerd in 1998

X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

door Piussan, C, Hanauer, A, Dahl, N, Mathieu, M, Kolski, C, Biancalana, V, Heyberger, S, Strunski, V
Gepubliceerd in 1995

BstXI RFLP in the human inter-alpha-trypsin inhibitor light chain gene.

door Léveillard, T, Bourguignon, J, Sesboüé, R, Hanauer, A, Salier, J P, Diarra-Mehrpour, M, Martin, J P
Gepubliceerd in 1988

Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.

door Oudet, C, Weber, C, Kaplan, J, Segues, B, Croquette, M F, Roman, E O, Hanauer, A
Gepubliceerd in 1993

Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies.

door Tranchant, C, Doh-ura, K, Warter, J M, Steinmetz, G, Chevalier, Y, Hanauer, A, Kitamoto, T, Tateishi, J
Gepubliceerd in 1992

An hypervariable polymorphism detected in the human inter-α-trypsin inhibitor heavy chain gene ITIH2

door Léveillard, T., Sirugo, G., Hanauer, A., Sesboüé, R., Bourguignon, J., Diarra-Mehrpour, M., Salier, J.P., Martin, J.P.
Gepubliceerd in 1990

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

door Merienne, K, Jacquot, S, Trivier, E, Pannetier, S, Rossi, A, Scott, C, Schinzel, A, Castellan, C, Kress, W, Hanauer, A
Gepubliceerd in 1998

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

door Manouvrier-Hanu, S, Amiel, J, Jacquot, S, Merienne, K, Moerman, A, Coeslier, A, Labarriere, F, Vallee, L, Croquette, M, Hanauer, A
Gepubliceerd in 1999

Phenotype-genotype correlations in X linked retinitis pigmentosa.

door Kaplan, J, Pelet, A, Martin, C, Delrieu, O, Aymé, S, Bonneau, D, Briard, M L, Hanauer, A, Larget-Piet, L, Lefrançois, P
Gepubliceerd in 1992

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2

door Biancalana, V., Briard, M. L., David, A., Gilgenkrantz, S., Kaplan, J., Mathieu, M., Piussan, C., Poncin, J., Schinzel, A., Oudet, C., Hanauer, A.
Gepubliceerd in 1992

Genetic Linkage Heterogeneity in Myotubular Myopathy

door Samson, F., Mesnard, L., Heimburger, M., Hanauer, A., Chevallay, M., Mercadier, J. J., Pelissier, J. F., Feingold, N., Junien, C., Mandel, J.-L., Fardeau, M.
Gepubliceerd in 1995