Kretz, Christine

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 1,499

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

Laporte, J., Hu, L. J., Kretz, C., Mandel, J.-L., Kioschis, P., Coy, J. F., Klauck, S. M., Poustka, A., & Dahl, N. (1996) · Nature Genetics

Muscle Physiology and DisordersProtein Tyrosine Phosphatases

Cited by 639

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Nicot, A.-S., Toussaint, A., Tosch, V., Kretz, C., Wallgren-Pettersson, C., Iwarsson, E., Kingston, H., Garnier, J.-M., Biancalana, V., Oldfors, A., et al. (2007) · Nature Genetics

Muscle Physiology and DisordersGenomics and Rare Diseases

Cited by 434

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

Mosser, J., Lutz, Y., Stoeckel, M. E., Sarde, C. O., Kretz, C., Douar, A. M., Lopez, J., Aubourg, P., & Mandel, J. L. (1994) · Human Molecular Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 281

Genomic organization of the adrenoleukodystrophy gene

Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., & Mandel, J.-L. (1994) · Genomics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 82