Results 31 to 40 of about 575,297 (315)

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
doaj   +1 more source

Urinary naphthol metabolites and chromosomal aberrations in 5-year-old children. [PDF]

, 2012
Background: Exposure to naphthalene, an International Agency for Research on Cancer (IARC)-classified possible carcinogen and polycyclic aromatic hydrocarbon (PAH), is widespread, though resulting health effects are poorly understood.
Li, Zheng, Miller, Rachel L, Sjodin, Andreas, Orjuela, Manuela A, Diaz-Carreño, Silvia, Perera, Frederica P, Hoepner, Lori, Warburton, Dorothy, Suen, Ida Hui, Tang, Deliang, Jobanputra, Vaidehi, Liu, Xinhua   +11 more
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A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

Cells, 2019
Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that they
Nejla Erkilic, Vincent Gatinois, Simona Torriano, Pauline Bouret, Carla Sanjurjo-Soriano, Valerie De Luca, Krishna Damodar, Nicolas Cereso, Jacques Puechberty, Rocio Sanchez-Alcudia, Christian P. Hamel, Carmen Ayuso, Isabelle Meunier, Franck Pellestor, Vasiliki Kalatzis   +14 more
doaj   +1 more source

Architecture of metaphase chromosomes and chromosome scaffolds. [PDF]

The Journal of cell biology, 1983
We have developed procedures for depositing intact mitotic chromosomes and isolated residual scaffolds on electron microscope grids at controlled and reproducible levels of compaction. The chromosomes were isolated using a recently developed aqueous method. Our study has addressed two different aspects of chromosome structure.
Earnshaw, William C., Laemmli, Ulrich Karl   +1 more
openaire   +3 more sources

Chromosomal in situ suppression hybridization of immunologically classified mitotic cells in hematologic malignancies [PDF]

, 1992
Chromosomal in situ suppression (CISS) hybridization was performed with library DNA from sorted human chromosomes 8, 9, 15, 17, 21, and 22 on immunologically stained bone marrow cells of four patients with a hematologic neoplasm, including two patients ...
Knuutila, Sakari, Jotterand Bellomo, Martine, Marianne Tiainen, Tiainen, Marianne, Sakari Knuutila, Tapani Ruutu, Emmerich, Patricia, Cremer, Thomas, Susanne Popp, Martine Jotterand Bellomo, Ruutu, Tapani, Parlier, Valerie, Patricia Emmerich, Popp, Susanne, Thomas Cremer, Valerie Parlier   +15 more
core   +1 more source

Effectiveness of non-invasive chromosomal screening for normal karyotype and chromosomal rearrangements

Frontiers in Genetics, 2023
PurposeTo study the accuracy of non-invasive chromosomal screening (NICS) results, in normal chromosomes and chromosomal rearrangement groups and to investigate whether using trophoblast cell biopsy along with NICS, to choose embryos for transfer can ...
Bo-lan Sun, Yong Wang, Sixi-Wen, Liang Zhou, Chun-hui Zhang, Ze-Xuan Wu, Jie Qiao, Qing-yuan Sun, Ya-xin Yao, Jing Wang, Zi-Yun Yi, Wei-Ping Qian   +11 more
doaj   +1 more source

Bcr/Abl Interferes with the Fanconi Anemia/BRCA Pathway: Implications in the Chromosomal Instability of Chronic Myeloid Leukemia Cells [PDF]

, 2010
Chronic myeloid leukemia (CML) is a malignant clonal disorder of the hematopoietic system caused by the expression of the BCR/ABL fusion oncogene. Although it is well known that CML cells are genetically unstable, the mechanisms accounting for this ...
Valeri, Antonio, Beatriz Albella, Agirre, Xabier, Casado, José A., Pujol, MR, Rio, P, Bueren, Juan, Ariana Jacome, Albella Beatriz, Maria Eugenia Alonso-Ferrero, Juan A Bueren, Alonso-Ferrero, Maria Eugenia, Calasanz, M.J, María Roser Pujol, Hanenberg, H. (H.), Jacome Ariana, Alonso-Ferrero, ME, Hanenberg, H, Perez, L, Pérez-Fuentes, L. (Laura), Agirre, X, Jacome, A, Juan A. Bueren, Jacome, Ariana, Río Paula, Pujol María Roser, Surrallés Jordi, Prosper-Cardoso, F. (Felipe), Pérez Laura, Maria José Calasanz, Pujol i Calvet, M. Roser, Surralles, J. (Jordi), Hanenberg, Helmut, Prosper Felipe, Helmut Hanenberg, Pérez, Laura, Casado, J. (J.A.), Jacome, A. (Ariana), Albella, Beatriz, Bueren, JA, Hanenberg Helmut, Agirre Xabier, Bueren, J.A. (Juan A.), Valeri, A. (Antonio), Rio, P. (Paula), Calasanz-Abinzano, M.J. (Maria Jose), Prosper, F, José A Casado, Laura Pérez, Paula Río, Surrallés i Calonge, Jordi, Río, Paula, Antonio Valeri, Casado José A., Valeri Antonio, Jordi Surrallés, Casado, JA, Calasanz Maria José, Felipe Prosper, Surralles, J, José A. Casado, Calasanz, MJ, Albella, B, Albella, B. (B.), Alonso-Ferrero Maria Eugenia, Valeri, A, Alonso-Ferrero, M. (M.E.), Pujol, M.R. (María Roser), Bueren Juan A., Aguirre-Ena, X. (Xabier), Xabier Agirre, Prosper, Felipe   +71 more
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Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience [PDF]

Journal of Clinical and Diagnostic Research, 2016
Introduction: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality.
Sunil Kumar Polipalli, Vijay Kumar Karra, Ankur Jindal, Madhavi Puppala, Pratiksha Singh, Kanchan Rawat, Seema Kapoor   +6 more
doaj   +1 more source

Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

BMC Pregnancy and Childbirth, 2021
Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal
Li-Ping Chen, Yong-Feng Lai, Xiao-Hong Zhong, Jian-Hong You, Jiang-Hua Chen, Jing-Xian Xie, Xiao-Kang Chen, Xiao-Yan Chen, Guo-Rong Lyu   +8 more
doaj   +1 more source

Borealin : a novel chromosomal passenger required for stability of the bipolar mitotic spindle [PDF]

, 2004
The chromosomal passenger complex of Aurora B kinase, INCENP, and Survivin has essential regulatory roles at centromeres and the central spindle in mitosis. Here, we describe Borealin, a novel member of the complex.
Erich A. Nigg, Ana Carvalho, Dietlind L. Gerloff, Reto Gassmann, Sandrine Ruchaud, Nigg, E. A., Henzing, Alexander J., Nigg, Erich A., Hudson, D. E., Damien F. Hudson, Reiko Honda, Honda, Reiko, Gassmann, Reto, Gassmann, R., Ruchaud, Sandrine, Earnshaw, William C., Hudson, Damien F., Carvalho, Ana, Ruchaud, S., Honda, R., Gerloff, D. L., Earnshaw, W. C., Alexander J. Henzing, William C. Earnshaw, Henzing, A. J., Carvalho, A., Gerloff, Dietlind L.   +26 more
core   +1 more source