Menkes disease : recent advances and new aspectsTÜMER, Z; HORN, N.Journal of medical genetics. 1997, Vol 34, Num 4, pp 265-274, issn 0022-2593Article

Menkes disease : Recent Advances and New Insights into Copper MetabolismTÜMER, Z; HORN, N.Annals of medicine (Helsinki). 1996, Vol 28, Num 2, pp 121-129, issn 0785-3890Article

Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization : detection of a break in the centromeric α-satellite sequencesTÜMER, Z; BERG, A; MIKKELSEN, M et al.Human genetics. 1995, Vol 95, Num 3, pp 299-302, issn 0340-6717Article

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosisTÜMER, Z; TØNNESEN, T; HORN, N et al.Journal of inherited metabolic disease. 1994, Vol 17, Num 3, pp 267-270, issn 0141-8955Conference Paper

First trimester prenatal diagnosis of Menkes disease by DNA analysisTÜMER, Z; TØNNESEN, T; BÖHMANN, J et al.Journal of medical genetics. 1994, Vol 31, Num 8, pp 615-617, issn 0022-2593Article

A cytogenetic survey in Menkes disease : implications for the detection of chromosomal rearrangements in X linked disordersTOMMERUP, N; TÜMER, Z; TØNNESEN, T et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 314-315, issn 0022-2593Conference Paper

Menkes disease : Underlying genetic defect and new diagnostic possibilitiesTÜMER, Z; HORN, N.Journal of inherited metabolic disease. 1998, Vol 21, Num 5, pp 604-612, issn 0141-8955Conference Paper

Investigation of 4q-Deletion in Two Unrelated Patients Using Array CGHKAALUND, S. S; MOLLER, R. S; TESZAS, A et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 18, pp 2431-2434, issn 1552-4825, 4 p.Article

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndromeENGENHEIRO, E; SARAIVA, J; CARREIRA, I et al.Clinical genetics. 2007, Vol 72, Num 5, pp 464-470, issn 0009-9163, 7 p.Article

X-linked recessive Menkes disease: identification of partial gene deletions in affected malesPOULSEN, L; HORN, N; HEILSTRUP, H et al.Clinical genetics. 2002, Vol 62, Num 6, pp 449-457, issn 0009-9163, 9 p.Article

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobeMØLLER, R. S; HANSEN, C. P; JACKSON, G. D et al.Clinical genetics. 2007, Vol 72, Num 6, pp 593-598, issn 0009-9163, 6 p.Article

Eponymous jacobsen syndrome : Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in down syndrome. Author's replyTÜMER, Z; HENRIKSEN, A. M; BACHE, I et al.American journal of medical genetics. 2005, Vol 135A, Num 3, pp 339-341, issn 0148-7299, 3 p.Article

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) miceGEORGE, A. M; REED, V; GLENISTER, P et al.Genomics (San Diego, Calif.). 1994, Vol 22, Num 1, pp 27-35, issn 0888-7543Article

Clinical and biochemical consequences of copper-histidine therapy in Menkes diseaseKREUDER, J; OTTEN, A; FUDER, H et al.European journal of pediatrics. 1993, Vol 152, Num 10, pp 828-832, issn 0340-6199Conference Paper

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patientsTÜMER, Z; HARBOE, T. L; BLENNOW, E et al.American journal of medical genetics. 2004, Vol 130A, Num 4, pp 340-344, issn 0148-7299, 5 p.Article

Assignment¹ of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33→q23RENDTORFF, N. D; VISSING, H; TÜMER, Z et al.Cytogenetics and cell genetics. 2000, Vol 89, Num 3-4, pp 279-280, issn 0301-0171Article

Genetic anticipation in Behçet's syndromeFRESKO, I; SOY, M; HAMURYUDAN, V et al.Annals of the rheumatic diseases. 1998, Vol 57, Num 1, pp 45-48, issn 0003-4967Article

A small supernumerary marker chromosome X identified by in situ hybridizationSILAHTAROGLU, A. N; HACIHANEFIOGLU, S; YILMAZ, S et al.Clinical genetics. 1995, Vol 47, Num 5, pp 270-273, issn 0009-9163Article

Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomesSILAHTAROGLU, A. N; TÜMER, Z; KRISTENSEN, T et al.Cytogenetics and cell genetics. 1993, Vol 62, Num 4, pp 214-216, issn 0301-0171Article

Mapping of 5q35 chromosomal rearrangements within a genomically unstable regionBUYSSE, K; CREPEL, A; DEVRIENDT, K et al.Journal of medical genetics. 2008, Vol 45, Num 10, pp 672-678, issn 0022-2593, 7 p.Article

Breakpoints around the HOXD cluster result in various limb malformationsDLUGASZEWSKA, B; SILAHTAROGLU, A; TOMMERUP, N et al.Journal of medical genetics. 2006, Vol 43, Num 2, pp 111-118, issn 0022-2593, 8 p.Article

Delineation of an interstitial 9q22 deletion in basal cell nevus syndromeBOONEN, S. E; STAHL, D; KREIBORG, S et al.American journal of medical genetics. 2005, Vol 132A, Num 3, pp 324-328, issn 0148-7299, 5 p.Article

Lethal neonatal Menkes' disease with severe vasculopathy and fracturesJANKOV, R. P; BOERKOEL, C. F; HELLMANN, J et al.Acta paediatrica (Oslo). 1998, Vol 87, Num 12, pp 1297-1300, issn 0803-5253Article

Identification of point mutations in 41 unrelated patients affected with Menkes diseaseTÜMER, Z; LUND, C; TOLSHAVE, J et al.American journal of human genetics. 1997, Vol 60, Num 1, pp 63-71, issn 0002-9297Article

Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pairRAVN, K; LINDQUIST, S. G; NIELSEN, K et al.Clinical genetics. 2012, Vol 82, Num 3, pp 292-294, issn 0009-9163, 3 p.Article