Results 51 to 60 of about 93,691 (297)

CNV and nervous system diseases - what's new? [PDF]

, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +3 more sources

CML with complex chromosome rearrangements and dysplastic megakaryocytes [PDF]

Blood, 2016
![Figure][1] A 41-year-old man presented with anemia (hemoglobin 112 g/dL), leukocytosis (white blood cells 158.85 × 109/L) including basophilia (15.44 × 109/L), and thrombocytosis (platelets 467 × 109/L).
Zhaodong, Xu, Jean, McGowan-Jordan
openaire   +2 more sources

Double-strand break repair and homologous recombination in Schizosaccharomyces pombe [PDF]

, 2006
In recent years our understanding of double strand break repair and homologous recombination in Schizosaccharomyces pombe has increased significantly, and the identification of novel pathways and genes with homologues in higher eukaryotes has increased ...
Ahmad, Ahmad, Ahn, Ahnesorg, Akamatsu, Assenmacher, Baumann, Boddy, Boddy, Bonatto, Bransteitter, Buck, Callebaut, Caspari, Catlett, Cervantes, Chahwan, Cheok, Connelly, Cooper, Doe, Doe, Doe, Doe, Dudasova, Farah, Farah, Ferreira, Ferreira, Fukushima, Gaillard, Goedecke, Goodwin, Grishchuk, Haber, Hartsuiker, Hefferin, Jang, Jung, Khasanov, Khasanov, Kibe, Kim, Kim, Krogh, Lambert, Laursen, Macris, Maftahi, Maftahi, Manolis, Marchetti, Martin, McGlynn, Moore, Morishita, Muris, Muris, Muris, Murray, Nakada, Nakamura, Oakley, Ono, Osman, Osman, Osman, Ostermann, Paques, Parker, Prudden, Sauvageau, Schmidt, Segurado, Shinohara, Smith, Steiner, Stewart, Sung, Suto, Szankasi, Szostak, Tarsounas, Tavassoli, Thacker, Tomita, Tomita, Tsutsui, Tsutsui, Ueno, van den Bosch, van den Bosch, Virgin, Virgin, Wang, Weterings, Whitby, Whitby, Wilson, Win, Win, You, Young   +102 more
core   +2 more sources

Complex chromosomal rearrangement—a lesson learned from PGS [PDF]

Journal of Assisted Reproduction and Genetics, 2017
The aim of the study is to report a case of non-diagnosed complex chromosomal rearrangement (CCR) identified by preimplantation genetic screening (PGS) followed by preimplantation genetic diagnosis (PGD) which resulted in a pregnancy and delivery of healthy offspring.A 29-year-old woman and her spouse, both diagnosed previously with normal karyotypes ...
Tsvia Frumkin, Sagit Peleg, Veronica Gold, Adi Reches, Shiri Asaf, Foad Azem, Dalit Ben-Yosef, Mira Malcov   +7 more
openaire   +2 more sources

Genetic Requirements for Intra-Chromosomal Deletions [PDF]

, 2020
Chromosomal deletions are one of the most dangerous types of DNA damage and often arise as a result of inappropriately repaired DNA double strand breaks (DSB).
McPherson, Matthew
core  

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Molecular Cytogenetics, 2018
Background Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.
Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani   +6 more
doaj   +1 more source

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis [PDF]

, 2014
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes.
Anderson, M, Bailey, P, Barbour, A, Bruxner, T, Campbell, P, Christ, A, Fink, J, Gotley, D, Grimmond, S, Harliwong, I, Hayward, N, Holmes, O, Hussey, D, Idrisoglu, S, Kazakoff, S, Krause, L, Lampe, G, Leonard, C, Loffler, K, Lord, R, Manning, S, Miller, D, Nancarrow, D, Newell, F, Nones, K, Nourbakhsh, E, Nourse, C, Patch, A, Pearson, J, Phillips, W, Quek, K, Quinn, M, Reid, L, Simpson, P, Smithers, B, Tang, Y, Waddell, N, Waddell, N, Watson, D, Wayte, N, Whiteman, D, Wilson, P, Wood, S, Xu, Q   +43 more
core   +4 more sources

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

Frontiers in Genetics
IntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang   +9 more
doaj   +1 more source