Author

Tønne Tønnesen

Observed names: T Tönnesen, T Tønnesen, T. TØNNESEN, T. Tönnesen, T. TøNNESEN, T. Tønnesen, Tonne TONNESEN, Tonne Tonnesen, TØNNE TØNNESEN, Tönne Tönnesen, Tønnesen, T.

Institution: Kennedy Center

Observed institutions: University of Copenhagen, University of Southern Denmark, York University, Aalborg University Hospital, Hvidovre Hospital, Carlsberg Foundation, Kennedy Center

OpenAlex ID: A5032226057

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

1993 · Jamel Chelly, Zeynep Tümer, et al. · Nature Genetics · 723

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

1995 · Maire-Louise Bondeson, Niklas Dahl, et al. · Human Molecular Genetics · 176

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

1987 · H Kresse, S Rosthøj, et al. · Europe PMC (PubMed Central) · 99

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

1997 · Z Tümer, C Lund, et al. · Europe PMC (PubMed Central) · 98

Early copper-histidine treatment for Menkes disease

1996 · Zeynep Tümer, Nina Horn, et al. · Nature Genetics · 97

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

1995 · Z. Tümer, B. Vural, et al. · Genomics · 86

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

1993 · J. Kreuder, A. Otten, et al. · European Journal of Pediatrics · 73

Menkes Disease: An X‐Linked Neurological Disorder of the Copper Metabolism

1992 · Nina Horn, Tønne Tønnesen, et al. · Brain Pathology · 73

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

1992 · Z. Tümer, N. Tommerup, et al. · Human Genetics · 64

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

1991 · V Gieselmann, A L Fluharty, et al. · Europe PMC (PubMed Central) · 60

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.

1993 · J M Penzien, J Kappler, et al. · Europe PMC (PubMed Central) · 54

Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism

1989 · T. Tønnesen, N. Horn · Journal of Inherited Metabolic Disease · 51

Inhibitors of Ribonucleic Acid Synthesis in Saccharomyces cerevisiae : Decay Rate of Messenger Ribonucleic Acid

1973 · T. Tønnesen, J. D. Friesen · Journal of Bacteriology · 49

First Trimester Prenatal Diagnosis of a Male Fetus With Fragile X

1985 · N Tommerup, F Søndergaard, et al. · The Lancet · 47

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

1994 · Z Tümer, T Tønnesen, et al. · Journal of Medical Genetics · 34

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Multipoint linkage analysis in Menkes disease.

1992 · T Tønnesen, A Petterson, et al. · Europe PMC (PubMed Central) · 31

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

1992 · M.-L. Steén-Bondeson, N. Dahl, et al. · Human Molecular Genetics · 31

Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease

1992 · Zeynep Tümer, Jamel Chelly, et al. · Human Molecular Genetics · 31

Clinical expression of Menkes syndrome in females

1990 · A.‐M. Gerdes, T. Tønnesen, et al. · Clinical Genetics · 29

Mental retardation in a patient with Maroteaux‐Lamy

1987 · S. Vestermark, T. Tønnesen, et al. · Clinical Genetics · 28

Measurement of Copper in Chorionic Villi for First-trimester Diagnosis of Menkes' Disease

1985 · T. Tønnesen, N. Horn, et al. · The Lancet · 27

Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings

1990 · Serge Przedborski, Alina Ferster, et al. · American Journal of Medical Genetics · 23

Feasibility of First Trimester Prenatal Diagnosis of Hunter Syndrome

1983 · C. Lykkelund, F. Søndergaard, et al. · The Lancet · 22

Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.

1991 · T Tønnesen, H N Gregersen, et al. · Journal of Medical Genetics · 21

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X-chromosome-specific Probe Dx13 for Carrier Detection and First Trimester Prenatal Diagnosis in Haemophilia a

1984 · T. Tønnesen, F. Søndergaard, et al. · The Lancet · 21

Works count: 58

Citation count: 2,262

H-index: 22

I10-index: 34