Results 11 to 20 of about 453,665 (301)

Genome-scale analysis identifies paralog lethality as a vulnerability of chromosome 1p loss in cancer. [PDF]

, 2018
Functional redundancy shared by paralog genes may afford protection against genetic perturbations, but it can also result in genetic vulnerabilities due to mutual interdependency1-5.
Berger, Ashton C, Bhatia, Sangeeta N, Buss, Colin G, Carr, Steven A, Cherniack, Andrew D, Choi, Peter S, Hahn, William C, Krill-Burger, John M, Lage, Kasper, Malolepsza, Edyta, Meyerson, Matthew, Nogueira, Marina F, Pedamallu, Chandra Sekhar, Schenone, Monica, Shih, Juliann, Strathdee, Craig A, Tamayo, Pablo, Tanenbaum, Benjamin, Taylor, Alison M, Tsherniak, Aviad, Vazquez, Francisca, Viswanathan, Srinivas R, Wawer, Mathias J   +22 more
core   +1 more source

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Frontiers in Genetics, 2019
Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear.
Yixi Sun, Yixi Sun, Yixi Sun, Yuqin Luo, Yuqin Luo, Yuqin Luo, Yeqing Qian, Yeqing Qian, Yeqing Qian, Min Chen, Min Chen, Min Chen, Liya Wang, Liya Wang, Liya Wang, Hongge Li, Hongge Li, Hongge Li, Yu Zou, Minyue Dong, Minyue Dong, Minyue Dong   +21 more
doaj   +1 more source

Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11 [PDF]

, 2005
Background: Loss of chromosome 11q defines a subset of high-stage aggressive neuroblastomas. Deletions are typically large and mapping efforts have thus far not lead to a well defined consensus region, which hampers the identification of positional ...
De Preter, K, Vandesompele, J, Menten, B, Carr, P, Fiegler, H, Edsjö, Anders,, Carter, NP, Yigit, N, Waelput, W, Van Roy, N, Bader, S, Påhlman, Sven,, Speleman, F, Lund University.   +13 more
core   +3 more sources

Chromosome 20q Deletion [PDF]

American Journal of Clinical Pathology, 2011
Abstractdel(20q) can be observed in hematologic neoplasms, including chronic myelogenous leukemia (CML), and has been reported in patients undergoing blast transformation. We describe 10 patients with CML in hematologic and cytogenetic remission with del(20q) detected by conventional cytogenetics.
Jianlan Sun, C. Cameron Yin, Wei Cui, Su S. Chen, L. Jeffrey Medeiros, Gary Lu   +5 more
openaire   +1 more source

SMC is recruited to oriC by ParB and promotes chromosome segregation in Streptococcus pneumoniae [PDF]

, 2011
Segregation of replicated chromosomes is an essential process in all organisms. How bacteria, such as the oval-shaped human pathogen Streptococcus pneumoniae, efficiently segregate their chromosomes is poorly understood.
Avery, Baerends, Bloom, Bouthier de la Tour, Britton, Dagkessamanskaia, Danilova, Eberhardt, Errington, Fadda, Ferrandiz, Fogel, Gasc, Gerdes, Glaser, Graumann, Gruber, Guthlein, Halfmann, Hendriksen, Hoskins, Hudson, Hui, Ireton, Jun, Jun, Katayama, Kloosterman, Kornberg, Lanie, Leenhouts, Lin, Lindow, Livny, Lynch, Martin, Mascarenhas, Mitchell, Moriya, Mott, Murray, Nasmyth, O'Brien, Onn, Ptacin, Reyes-Lamothe, Ringgaard, Salje, Sambrook, Schofield, Scholefield, Sebert, Soppa, Sullivan, Terzaghi, Thanbichler, Toro, van der Poll, Weiser, Yu, Zakrzewska-Czerwinska, Zhao   +61 more
core   +5 more sources

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

Molecular Cytogenetics, 2020
Background Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which poses a great challenge for genetic ...
Pingping Zhang, Yanmei Sun, Ping Huo, Haishen Tian, Jian Gao, Yali Li   +5 more
doaj   +1 more source

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

Molecular Cytogenetics, 2019
Background Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT)
Ganye Zhao, Peng Dai, Shanshan Gao, Xuechao Zhao, Conghui Wang, Lina Liu, Xiangdong Kong   +6 more
doaj   +1 more source

Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation [PDF]

, 2015
The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases.
Federico, C, Owoka, T, Saccone, S, Tosi, S, Vetter, M   +4 more
core   +2 more sources

A family case of fertile human 45,X,psu dic(15;Y) males [PDF]

, 2006
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M, Baumstark A, Buonadonna AL, C.S. Nagarajappa, Callen DF, Charchar FJ, Fracarro M, Freije D, Gal A, Haaf T, Hsu TC, I. Hansmann, I. Palaniappan, Koiffmann CP, Ma NS, Maserati E, Matthey R, N. Chandra, P.M. Gopinath, R. Wimmer, Ried T, Schempp W, Schiebel K, Schmid M, Siffroi JP, Subrt I, Tiemeier DC, W. Schempp, Weber B, White LM   +29 more
core   +1 more source

Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dystrophin gene [PDF]

, 1994
We report on multicolor fluorescence in situ hybridization protocols for the simultaneous visualization of deletion-prone regions for carrier detection of Duchenne/ Becker (DMD/BMD) muscular dystrophy.
Blonden, Lau, Cremer, Marion, Cremer, Thomas, Kilian, Karin, Ried, Thomas, Schröck, Evelin, Tocharoentanaphol, Chintana   +6 more
core   +1 more source