Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Stephanie B. Subramanian"'
Autor:
Stephanie B. Subramanian, Mark R. Hughes, Kenneth J. Moise, K M Hudson, I.B. Van den Veyver, Jochewed Werch
Publikováno v:
Obstetrics & Gynecology. 87:419-422
Objective: To assess the accuracy of a molecular assay for the determination of the fetal RhD status on amniotic fluid (AF) samples. Methods: Amplification of DNA by polymerase chain reaction of a common sequence of the RhD and CE genes and of a uniq
Autor:
Farideh Z. Bischoff, Lisa G. Shaffer, Mark R. Hughes, Stephanie B. Subramanian, Christopher McCaskill, Gerald L. Feldman
Publikováno v:
Human Molecular Genetics. 4:395-399
Partial isodisomy of 11p has been observed in some patients with Beckwith-Wiedemann syndrome. In this study, we demonstrate somatic mosaicism directly through PCR and single cell analysis on blood lymphocytes from a patient with Beckwith-Wiedemann sy
Autor:
Daniel DiSepio, Kristleifur Kristjansson, Stephanie B. Subramanian, Michael C. Snabes, Samuel S. Chong, Mark R. Hughes
Publikováno v:
Proceedings of the National Academy of Sciences. 91:6181-6185
Due to the limited amount of DNA in a single diploid cell, preimplantation genetic diagnosis has relied on single- or dual-locus analyses in biopsied blastomers. We have applied single-cell whole-genome preamplification to PCR-based analysis of multi
Autor:
Mark R. Hughes, Kristleifur Kristjansson, Stephanie B. Subramanian, Michael C. Snabes, Samuel S. Chong, Van den Veyver Ib
Publikováno v:
Nature Genetics. 6:19-23
Primer extension preamplification (PEP) increases the scope and capacity of single cell genetic diagnosis by generating sufficient template to perform multiple subsequent DNA analyses using the polymerase chain reaction. We report the simultaneous an
Autor:
U.-B. Kroon, Nikolaos Thomakos, I. Olsson, Yasuo Otsubo, Immo Rantala, Heung-Tat Ng, A. La Marca, K. Teisala, Stephanie B. Subramanian, Jung Choe, N. Ács, Seppo Kivinen, G. Morgante, Kyoko Maeda, Ken-ichi Honda, Osamu Ishiko, Jerome H. Check, Kenichi Wakasa, Harold J. Miller, Arial J. Jaffa, Nina Bohm-Starke, Hideto Yamada, Yoshio Yoneyama, Kenneth J. Moise, Shunji Suzuki, Chi-Ching Chang, Ming-Shyen Yen, Henry Nisell, Christian Falconer, Seiichiro Fujimoto, Karen F. Dorman, Catharina Erikssen, S. Matányi, M. Uysal, Ü. Mutlu-Türkoglu, Asnat Groutz, Rintaro Sawa, E. Ademoglu, Erkki Kujansuu, Haleh Sangi-Haghpeykar, V. De Leo, F. Paulin, G. Aykaç-Toker, Jerome Yankowitz, Eva Rylander, Z. Fontányi, Ronald L. Young, Marita Hilliges, Kjell Carlström, Itsuko Furuta, Bengt Persson, Sirpa Rintala, Sachio Ogita, Risto Tuimala, David Gordon, A. Ditto, Igal Wolman, Peng-Hui Wang, Ignatia B. Van den Veyver, Joseph B. Lessing, Michael J. Kupferminc, Naoki Kawamura, L. Ibrahimoglu, Tsutomu Araki, Kuan-Chong Chao, Noriaki Sakuragi
Publikováno v:
Gynecologic and Obstetric Investigation. 48:295-297
Publikováno v:
American Journal of Medical Genetics. 78:179-181
The human holocytochrome c-type synthetase (HCCS) gene is located on Xp22.3 and is one of the genes identified in a 450-Kb region deleted in the neurodevelopmental disorder microphthalmia with linear skin defects. Several other developmental disorder
Autor:
Jerome Yankowitz, Ignatia B. Van den Veyver, Stephanie B. Subramanian, Kenneth J. Moise, Karen F. Dorman
Publikováno v:
Gynecologic and obstetric investigation. 48(4)
Polymerase chain reaction (PCR)-based genotyping on amniotic fluid in an RhD-negative alloimmunized woman predicted an RhD-negative fetal blood type. The neonate was RhD-positive and developed hemolytic disease. Discrepant results were also observed
Autor:
G. Morgante, Arial J. Jaffa, A. La Marca, Christian Falconer, Osamu Ishiko, Michael J. Kupferminc, U.-B. Kroon, Kyoko Maeda, M. Uysal, Asnat Groutz, F. Paulin, Noriaki Sakuragi, Henry Nisell, G. Aykaç-Toker, Jerome H. Check, Eva Rylander, Seppo Kivinen, Z. Fontányi, Chi-Ching Chang, Seiichiro Fujimoto, Igal Wolman, Ming-Shyen Yen, Immo Rantala, Harold J. Miller, S. Matányi, Jerome Yankowitz, K. Teisala, Nina Bohm-Starke, Heung-Tat Ng, A. Ditto, Joseph B. Lessing, Nikolaos Thomakos, Kuan-Chong Chao, I. Olsson, Peng-Hui Wang, Stephanie B. Subramanian, N. Ács, Tsutomu Araki, Naoki Kawamura, Sirpa Rintala, David Gordon, Ignatia B. Van den Veyver, V. De Leo, Sachio Ogita, Rintaro Sawa, Ronald L. Young, Yasuo Otsubo, Risto Tuimala, Kenneth J. Moise, Haleh Sangi-Haghpeykar, Kjell Carlström, Yoshio Yoneyama, Hideto Yamada, Bengt Persson, Ken-ichi Honda, Itsuko Furuta, Kenichi Wakasa, E. Ademoglu, Karen F. Dorman, Erkki Kujansuu, L. Ibrahimoglu, Marita Hilliges, Shunji Suzuki, Catharina Erikssen, Ü. Mutlu-Türkoglu, Jung Choe
Publikováno v:
Gynecologic and Obstetric Investigation. 48:293-294
Publikováno v:
American Journal of Obstetrics and Gynecology. 176:S12