T. Tønnesen

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Jamel Chelly, Zeynep Tümer, T. Tønnesen et al. · Nature Genetics · 1993 · 726 citations

Mendelian Disorder, Disease Mechanism, Menkes Disease +13

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid.

Hans Kresse, Steen Rosthøj, E Quentin et al. · PubMed · 1987 · 100 citations

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

Zeynep Tümer, Burçak Vural, T. Tønnesen et al. · Genomics · 1995 · 89 citations

Mendelian Disorder, Natural Sciences, Genetics +11

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease

Joachim Kreuder, A. Otten, H. Fuder et al. · European Journal of Pediatrics · 1993 · 74 citations

Menkes Disease, Medicine, Pathology +2

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

Zeynep Tümer, Niels Tommerup, T. Tønnesen et al. · Human Genetics · 1992 · 64 citations

Chromatin, Developmental Biology, Genetic Disorder +8