T. Tønnesen

发表

FIRST TRIMESTER PRENATAL DIAGNOSIS OF A MALE FETUS WITH FRAGILE X

B. Arveiler, A. Schinzel, N. Tommerup, 1985, The Lancet.

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

Z. Tümer, J. Kreuder, D. Dralle, 1993, European Journal of Pediatrics.

Paternal non‐disjunction in a 46, XY/ 47, XXY individual with a fragile 17p12 in the mother

N. Tommerup, K. Gustavson, T. Tønnesen, 1986, Clinical genetics.

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

K. von Figura, V. Gieselmann, A. Fluharty, 1991, American journal of human genetics.

MEASUREMENT OF COPPER IN CHORIONIC VILLI FOR FIRST-TRIMESTER DIAGNOSIS OF MENKES' DISEASE

M. Mikkelsen, E. Damsgaard, J. Boué, 1985, The Lancet.

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

Z. Tümer, N. Tommerup, I. Craig, 1992, Human Genetics.

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

S. Goldman, S. Przedborski, R. Pollitt, 1990, American journal of medical genetics.

Variability in clinical expression of Menkes syndrome

A. Gerdes, F. Güttler, E. Pergament, 1988, European Journal of Pediatrics.

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

N. Horn, T. Tønnesen, Zeynep Türner, 1992, Brain pathology.

High 64Cu uptake and retention values in two clinically atypical Menkes patients.

A. Gerdes, T. Tønnesen, C. Garrett, 1991, Journal of medical genetics.

Menkes patients . values in two clinically atypical High 64 Cu uptake and retention

A. Gerdes, T. Tønnesen, C. Garrett, 2022 .

X-CHROMOSOME-SPECIFIC PROBE DX13 FOR CARRIER DETECTION AND FIRST TRIMESTER PRENATAL DIAGNOSIS IN HAEMOPHILIA A

K. Davies, R. Winter, M. Mikkelsen, 1984, The Lancet.

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

E. Quentin, H. Kresse, S. Rosthøj, 1987, American journal of human genetics.

Early prenatal diagnosis of the fragile site AT Xq27.3 associated with Martin‐Bell syndrome

K. Davies, N. Tommerup, U. Froster-Iskenius, 1991, Prenatal diagnosis.

EXCLUSION OF HAEMOPHILIA B IN MALE FETUS BY CHORIONIC VILLUS BIOPSY

J. Moisan, F. Guttler, I. Oberlé, 1984, The Lancet.

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

H. Moser, J. Kappler, P. Propping, 1993, American journal of human genetics.

The use of fructose 1-phosphate to detect Hunter heterozygotes in fibroblast cultures from high-risk carriers

T. Tønnesen, 2004, Human Genetics.

Diagnosis of Hunter's syndrome carriers; Radioactive sulphate incorporation into fibroblasts in the presence of fructose 1-phosphate

F. Güttler, T. Tønnesen, C. Lykkelund, 2004, Human Genetics.

Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome

F. Güttler, T. Tønnesen, C. Lykkelund, 2004, Human Genetics.

Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and α1-antitrypsin deficiencydeficiency

F. Güttler, J. Nielsen, T. Tønnesen, 1986, European Journal of Pediatrics.

Mental retardation in a patient with Maroteaux‐Lamy

F. Güttler, S. Vestermark, T. Tønnesen, 1987, Clinical genetics.

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

Z. Tümer, N. Horn, T. Tønnesen, 1997, American journal of human genetics.

Highly effective second-line anti-Helicobacter pylori therapy in patients with previously failed metronidazole-based therapy.

B. Moum, J. Haug, F. Lerang, 1997, Scandinavian journal of gastroenterology.

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

P. Propping, W. Kleijer, F. Freycon, 1991, Human Genetics.

Early copper-histidine treatment for Menkes disease

Z. Tümer, J. Christodoulou, J. Clarke, 1996, Nature Genetics.

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

F. Güttler, T. Tønnesen, H. Gregersen, 1991, Journal of medical genetics.

First trimester biopsies of chorionic villi for prenatal diagnosis: experience of two laboratories

J. Lindsten, M. Mikkelsen, L. Marsk, 1984 .

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

A. Monaco, Z. Tümer, J. Chelly, 1995, Genomics.

Highly increased levels of serum β-hexosaminidase, arylsulphatase A and β-galactosidase in a patient with sepsis

F. Güttler, T. Tønnesen, P. Andersen, 1988, Journal of Inherited Metabolic Disease.

Multipoint linkage analysis in Menkes disease.

A. Gerdes, T. Kruse, N. Horn, 1992, American journal of human genetics.

Clinical expression of Menkes syndrome in females

A. Gerdes, T. Grisar, F. Güttler, 1990, Clinical genetics.

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

Z. Tümer, N. Horn, N. Tommerup, 1993, Journal of medical genetics.

Experience with first trimester prenatal diagnosis of Menkes disease

A. Gerdes, O. A. Jensen, E. Damsgaard, 1987, Prenatal diagnosis.

First‐trimester diagnosis of menkes disease: Intermediate copper values in chorionic villi from three affected male fetuses

W. Holzgreve, P. Miny, E. Damsgaard, 1989, Prenatal Diagnosis.

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

Anthony P. Monaco, Zeynep Tümer, Jamel Chelly, 1993, Nature Genetics.

HighCuuptake andretention values intwo clinically atypical Menkespatients

A. Gerdes, T. Tønnesen, C. Garrett, 1991 .

Incidence of Menkes disease

W. Kleijer, N. Horn, T. Tønnesen, 1991, Human Genetics.

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

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

Postmortem Menkes diagnosis from carrier testing of female relatives

A. Gerdes, E. Reske‐Nielsen, N. Horn, 1987, Clinical genetics.

A variant form of metachromatic leucodystrophy in a patient suffering from another congenital degenerative neurological disease

A. Nordenbo, T. Tønnesen, 1985, Acta Neurologica Scandinavica.

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.

S. Karsten, U. Pettersson, M. Bondeson, 1997, Human molecular genetics.

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

A. Monaco, Z. Tümer, N. Tommerup, 1992, Human molecular genetics.

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

N. Horn, T. Tønnesen, Zeynep Tumer, 1994, Journal of medical genetics.

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

Z. Tümer, N. Horn, T. Tønnesen, 1994, Journal of Inherited Metabolic Disease.