نتائج البحث

1

دورية

Investigation of 4qdeletion in two unrelated patients using array CGHHow to cite this article: Kaalund SS, Møller RS, Tészás A, Miranda M, Kosztolanyi G, Ullmann R, Tommerup N, Tümer Z. 2008. Investigation of 4qdeletion in two unrelated patients using array CGH. Am J Med Genet Part A 146A:2431–2434.SS Kaalund and RS Møller contributed equally to this work.

المؤلفون: Kaalund, S.S., Møller, R.S., Tészás, A., Miranda, M., Kosztolanyi, G., Ullmann, R., Tommerup, N., Tümer, Z.

المصدر: American Journal of Medical Genetics. Part A; September 2008, Vol. 146 Issue: 18 p2431-2434, 4p

2

دورية

4q35 deletion and 10p15 duplication associated with immunodeficiencyHow to cite this article: Cingoz S, Bisgaard AM, Bache I, Bryndorf T, Kirchoff M, Petersen W, Ropers H‐H, Maas N, Van Buggenhout G, Tommerup N, Tümer Z. 2006. 4q35 deletion and 10p15 duplication associated with immunodeficiency. Am J Med Genet Part A 140A:2231–2235.S. Cingoz and A.M. Bisgaard contributed equally to this article.This work is dedicated to the late Claes Lundsteen.

المؤلفون: Cingoz, S., Bisgaard, A.M., Bache, I., Bryndorf, T., Kirchoff, M., Petersen, W., Ropers, H.‐H., Maas, N., Van Buggenhout, G., Tommerup, N., Tümer, Z.

المصدر: American Journal of Medical Genetics. Part A; October 2006, Vol. 140 Issue: 20 p2231-2235, 5p

3

دورية

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

المؤلفون: Boonen, S.E., Stahl, D., Kreiborg, S., Rosenberg, T., Kalscheuer, V., Larsen, L.A., Tommerup, N., Brøndum‐Nielsen, K., Tümer, Z.

المصدر: American Journal of Medical Genetics. Part A; January 2005, Vol. 132 Issue: 3 p324-328, 5p

4

دورية

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patientsZ. Tümer and T.L. Harboe contributed equally to the work.

المؤلفون: Tümer, Z., Harboe, T.L., Blennow, E., Kalscheuer, V.M., Tommerup, N., Brøndum‐Nielsen, K.

المصدر: American Journal of Medical Genetics. Part A; November 2004, Vol. 130 Issue: 4 p340-344, 5p

5

دورية

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

المؤلفون: Tümer, Z., Tønnesen, T., Horn, N.

المصدر: Journal of Inherited Metabolic Disease; May 1994, Vol. 17 Issue: 3 p267-270, 4p

6

دورية

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

المؤلفون: Tümer, Z., Tønnesen, T., Horn, N.

المصدر: Journal of Inherited Metabolic Disease; May 1994, Vol. 17 Issue: 3 p267-270, 4p

7

دورية

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

المؤلفون: Tümer, Z., Tommerup, N., Tønnesen, T., Kreuder, J., Craig, I., Horn, N.

المصدر: Human Genetics; March 1992, Vol. 88 Issue: 6 p668-672, 5p

8

دورية

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

المؤلفون: Kreuder, J., Otten, A., Fuder, H., Tümer, Z., Tønnesen, T., Horn, N., Dralle, D.

المصدر: European Journal of Pediatrics; October 1993, Vol. 152 Issue: 10 p828-832, 5p

9

دورية

Analysis of Mnk, the Murine Homologue of the Locus for Menkes Disease, in Normal and Mottled (Mo) Mice

المؤلفون: George, Andrew M., Reed, Vivienne, Glenister, Peter, Chelly, Jamel, Tümer, Z., Horn, Nina, Monaco, Anthony P., Boyd, Yvonne

المصدر: Genomics; July 1994, Vol. 22 Issue: 1 p27-35, 9p

10

دورية

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 syndromeThis article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/1552‐4825/suppmat/index.html.This work is dedicated to the late Margareta Mikkelsen, who was co‐author of the first manuscript describing the Jacobsen syndrome and who devoted a great deal of her scientific life to the study of Down syndrome.

المؤلفون: Tümer, Z., Henriksen, A.M., Bache, I., Brixen, K., Kalschauer, V., Illum, N., Rasmussen, K., Larsen, L.A., Tommerup, N.

المصدر: American Journal of Medical Genetics. Part A; June 2005, Vol. 135 Issue: 3 p339-341, 3p

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