1. Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the same villi. Issue 12 (December 1990) Authors: Qumsiyeh, M B; Tharapel, A T; Shulman, L P; Simpson, J L; Elias, S Journal: Journal of medical genetics Issue: Volume 27:Issue 12(1990) Page Start: 780 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Elucidation of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation. Issue 5 (May 1993) Authors: Gordon, P L; Dalton, J D; Martens, P R; Tharapel, A T; Wilroy, R S Journal: Journal of medical genetics Issue: Volume 30:Issue 5(1993) Page Start: 414 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. Issue 9 (September 1996) Authors: Pivnick, E K; Velagaleti, G V; Wilroy, R S; Smith, M E; Rose, S R; Tipton, R E; Tharapel, A T Journal: Journal of medical genetics Issue: Volume 33:Issue 9(1996) Page Start: 772 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mosaic Down's syndrome with de novo 45, XX, -21, -22, +t(21q;22q)/46, XX, -21, +t(21q;21q) rearrangement. Issue 5 (October 1984) Authors: Tharapel, A T; Redheendran, R; Mankinen, C B; Kukolich, M K Journal: Journal of medical genetics Issue: Volume 21:Issue 5(1984) Page Start: 391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome. Issue 8 (August 1990) Authors: Pivnick, E K; Qumsiyeh, M B; Tharapel, A T; Summitt, J B; Wilroy, R S Journal: Journal of medical genetics Issue: Volume 27:Issue 8(1990) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13. Issue 4 (August 1986) Authors: Tharapel, S A; Lewandowski, R C; Tharapel, A T; Wilroy, R S Journal: Journal of medical genetics Issue: Volume 23:Issue 4(1986) Page Start: 310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Three different, non-mosaic sex chromosome abnormalities (direct cytotrophoblasts, mesenchymal core cultures, and abortus skin fibroblasts): implications for elucidating chorionic villi mosaicism. Issue 12 (December 1989) Authors: Shulman, L P; Tharapel, A T; Simpson, J L; Meyers, C M; Tucker, B; Weisskopf, B; Elias, S Journal: Journal of medical genetics Issue: Volume 26:Issue 12(1989) Page Start: 791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗