Coffin-Lowry syndrome: clinical and molecular features

Por Hanauer, A, Young, I
Publicado em 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.

Por Hanauer, A, Mandel, J L
Publicado em 1984

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

Por Hanauer, A, Mattei, M G, Mandel, J L
Publicado em 1987

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

Por Oudet, C, Heilig, R, Hanauer, A, Mandel, J L
Publicado em 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.

Por Avner, P, Amar, L, Arnaud, D, Hanauer, A, Cambrou, J
Publicado em 1987

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

Por Fujita, R, Hanauer, A, Sirugo, G, Heilig, R, Mandel, J L
Publicado em 1990

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

Por Hanauer, A, Levin, M, Heilig, R, Daegelen, D, Kahn, A, Mandel, J L
Publicado em 1983

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

Por Hanauer, A, Chery, M, Fujita, R, Driesel, A J, Gilgenkrantz, S, Mandel, J L
Publicado em 1990

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

Por Heilig, R, Hanauer, A, Grzeschik, K H, Hors-Cayla, M C, Mandel, J L
Publicado em 1984

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

Por Jacquot, S, Merienne, K, De Cesare, D, Pannetier, S, Mandel, J L, Sassone-Corsi, P, Hanauer, A
Publicado em 1998

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

Por Piussan, C, Hanauer, A, Dahl, N, Mathieu, M, Kolski, C, Biancalana, V, Heyberger, S, Strunski, V
Publicado em 1995

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

Por Léveillard, T, Bourguignon, J, Sesboüé, R, Hanauer, A, Salier, J P, Diarra-Mehrpour, M, Martin, J P
Publicado em 1988

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

Por Oudet, C, Weber, C, Kaplan, J, Segues, B, Croquette, M F, Roman, E O, Hanauer, A
Publicado em 1993

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

Por Tranchant, C, Doh-ura, K, Warter, J M, Steinmetz, G, Chevalier, Y, Hanauer, A, Kitamoto, T, Tateishi, J
Publicado em 1992

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

Por Léveillard, T., Sirugo, G., Hanauer, A., Sesboüé, R., Bourguignon, J., Diarra-Mehrpour, M., Salier, J.P., Martin, J.P.
Publicado em 1990

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

Por Merienne, K, Jacquot, S, Trivier, E, Pannetier, S, Rossi, A, Scott, C, Schinzel, A, Castellan, C, Kress, W, Hanauer, A
Publicado em 1998

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

Por Manouvrier-Hanu, S, Amiel, J, Jacquot, S, Merienne, K, Moerman, A, Coeslier, A, Labarriere, F, Vallee, L, Croquette, M, Hanauer, A
Publicado em 1999

Phenotype-genotype correlations in X linked retinitis pigmentosa.

Por Kaplan, J, Pelet, A, Martin, C, Delrieu, O, Aymé, S, Bonneau, D, Briard, M L, Hanauer, A, Larget-Piet, L, Lefrançois, P
Publicado em 1992

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

Por Biancalana, V., Briard, M. L., David, A., Gilgenkrantz, S., Kaplan, J., Mathieu, M., Piussan, C., Poncin, J., Schinzel, A., Oudet, C., Hanauer, A.
Publicado em 1992

Genetic Linkage Heterogeneity in Myotubular Myopathy

Por 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.
Publicado em 1995