-
1
-
-
22844445143
-
A rapid microarray based whole genome analysis for detection of uniparental disomy
-
Altug-Teber O., Dufke A., Poths S., Mau-Holzmann U.A., Bastepe M., Colleaux L., et al. A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat 26 (2005) 153-159
-
(2005)
Hum Mutat
, vol.26
, pp. 153-159
-
-
Altug-Teber, O.1
Dufke, A.2
Poths, S.3
Mau-Holzmann, U.A.4
Bastepe, M.5
Colleaux, L.6
-
3
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
Spence J.E., Perciaccante R.G., Greig G.M., Willard H.F., Ledbetter D.H., Hejtmancik J.F., et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42 (1988) 217-226
-
(1988)
Am J Hum Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
Willard, H.F.4
Ledbetter, D.H.5
Hejtmancik, J.F.6
-
4
-
-
0034098812
-
Mechanisms leading to uniparental disomy and their clinical consequences
-
Robinson W.P. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 22 (2000) 452-459
-
(2000)
Bioessays
, vol.22
, pp. 452-459
-
-
Robinson, W.P.1
-
5
-
-
22144446038
-
Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated
-
Kotzot D., and Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet 136A (2005) 287-305
-
(2005)
Am J Med Genet
, vol.136 A
, pp. 287-305
-
-
Kotzot, D.1
Utermann, G.2
-
6
-
-
0242608378
-
Uniparental disomy and Robertsonian translocations risk estimation and prenatal testing
-
Eggermann T., and Zerres K. Uniparental disomy and Robertsonian translocations risk estimation and prenatal testing. Mol Diag 7 (2003) 113-117
-
(2003)
Mol Diag
, vol.7
, pp. 113-117
-
-
Eggermann, T.1
Zerres, K.2
-
7
-
-
0033613977
-
Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15
-
Kotzot D. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82 (1999) 265-274
-
(1999)
Am J Med Genet
, vol.82
, pp. 265-274
-
-
Kotzot, D.1
-
8
-
-
0029162269
-
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter D.H., and Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4 (1995) 1757-1764
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
9
-
-
0032511751
-
Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature
-
Shaffer L.G., McCaskill C., Adkins K., and Hassold T.J. Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature. Am J Med Genet 79 (1998) 366-372
-
(1998)
Am J Med Genet
, vol.79
, pp. 366-372
-
-
Shaffer, L.G.1
McCaskill, C.2
Adkins, K.3
Hassold, T.J.4
-
10
-
-
0033926871
-
Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes
-
Berend S.A., Horwitz J., McCaskill C., and Shaffer L.G. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am J Hum Genet 66 (2000) 1787-1793
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1787-1793
-
-
Berend, S.A.1
Horwitz, J.2
McCaskill, C.3
Shaffer, L.G.4
-
11
-
-
0036757284
-
Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations
-
Kim S.R., and Shaffer L.G. Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations. Genet Test 6 (2002) 163-168
-
(2002)
Genet Test
, vol.6
, pp. 163-168
-
-
Kim, S.R.1
Shaffer, L.G.2
-
12
-
-
0034890364
-
Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
-
Kotzot D. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. J Med Genet 38 (2001) 497-507
-
(2001)
J Med Genet
, vol.38
, pp. 497-507
-
-
Kotzot, D.1
-
13
-
-
0019132131
-
Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter
-
Kirkels V.G., Hustinx T.W., and Scheres J.M. Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet 18 (1980) 456-461
-
(1980)
Clin Genet
, vol.18
, pp. 456-461
-
-
Kirkels, V.G.1
Hustinx, T.W.2
Scheres, J.M.3
-
14
-
-
0018875222
-
Tansmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter
-
Palmer C.G., Schwartz S., and Hodes M.E. Tansmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter. Clin Genet 17 (1980) 418-422
-
(1980)
Clin Genet
, vol.17
, pp. 418-422
-
-
Palmer, C.G.1
Schwartz, S.2
Hodes, M.E.3
-
15
-
-
0001139712
-
Paternal uniparental disomy 22
-
Miny P., Koppers B., Bogadanova N., Schulte-Vallentin M., Horst J., and Dworniczak B. Paternal uniparental disomy 22. Med Genetik 7 (1995) H76
-
(1995)
Med Genetik
, vol.7
-
-
Miny, P.1
Koppers, B.2
Bogadanova, N.3
Schulte-Vallentin, M.4
Horst, J.5
Dworniczak, B.6
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