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Quoted phrase not found in phrase index: "Rearrangement of 21q"
Page 1
Genetic alterations in gynecological malignancies.
Krkavcová M, Jancárková N, Janashia M, Freitag P, Dusková J. Krkavcová M, et al. Neoplasma. 2008;55(3):205-14. Neoplasma. 2008. PMID: 18348653
The results were subjected to statistical evaluation, using analysis of variances and I2 test. Ovarian cancer patients with extensive chromosomal rearrangements were assessed to be significantly younger. The typical findings, different in ovarian and cervical cancer cells …
The results were subjected to statistical evaluation, using analysis of variances and I2 test. Ovarian cancer patients with extensive chromo …
Gains, losses and complex karyotypes in myeloid disorders: a light at the end of the tunnel.
Alvarez S, Cigudosa JC. Alvarez S, et al. Hematol Oncol. 2005 Mar;23(1):18-25. doi: 10.1002/hon.744. Hematol Oncol. 2005. PMID: 16142824 Review.
On the basis of the available data from several studies of AML with complex karyotypes, similar findings on recurrent breakpoints and frequently lost and gained chromosomal regions have been observed. The most frequent rearrangements, in all the published series, we …
On the basis of the available data from several studies of AML with complex karyotypes, similar findings on recurrent breakpoints and freque …
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.
Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Ellis KMB, Vogel I, Vestergaard EM, Miguelez J, de Carvalho MHB, Sistermans EA, Pertile MD. Huijsdens-van Amsterdam K, et al. Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899373 Free PMC article.
False-negative results included 4 cases of classical trisomy 21 and 5 cases with a de novo 21q;21q rearrangement. Two out of five rearrangements had molecular studies and were confirmed as isochromosomes. ...Isochromosome 21q rearrangements …
False-negative results included 4 cases of classical trisomy 21 and 5 cases with a de novo 21q;21q rearrangement. Two o …
Chromosomal aberrations in prostate cancer.
Saramaki O, Visakorpi T. Saramaki O, et al. Front Biosci. 2007 May 1;12:3287-301. doi: 10.2741/2312. Front Biosci. 2007. PMID: 17485299
The most common DNA copy number aberrations are losses in chromosomes 5q, 6q, 8p, 10q, 13q, 16q, 17p, and 18q, and gains in 7p/q, 8q, 9p, and Xq. In addition, a chromosomal rearrangement in 21q has been observed in over 50% of prostate cancers. The target gen …
The most common DNA copy number aberrations are losses in chromosomes 5q, 6q, 8p, 10q, 13q, 16q, 17p, and 18q, and gains in 7p/q, 8q, 9p, an …
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.
Bendavid C, Dubourg C, Pasquier L, Gicquel I, Le Gallou S, Mottier S, Durou MR, Henry C, Odent S, David V. Bendavid C, et al. Hum Mutat. 2007 Dec;28(12):1189-97. doi: 10.1002/humu.20594. Hum Mutat. 2007. PMID: 17683084
Quantitative PCR was performed when discrepancies were observed between these two kits. We found that known SHH and TGIF microdeletions on 7q and 18p, encompassed their subtelomeric region (3.5 Mb) and were often associated with cryptic gains. Out of the 181 samples, we de …
Quantitative PCR was performed when discrepancies were observed between these two kits. We found that known SHH and TGIF microdeletio …
Chromosomal and genetic imbalances in synovial sarcoma detected by conventional and microarray comparative genomic hybridization.
Nakagawa Y, Numoto K, Yoshida A, Kunisada T, Ohata H, Takeda K, Wai D, Poremba C, Ozaki T. Nakagawa Y, et al. J Cancer Res Clin Oncol. 2006 Jul;132(7):444-50. doi: 10.1007/s00432-006-0089-5. Epub 2006 Mar 24. J Cancer Res Clin Oncol. 2006. PMID: 16557383
Additional microarray CGH was performed in 13 cases. RESULTS: Fourteen patients with SYT-SSX1 rearrangements and nine patients with biphasic tumor subtypes had better prognosis than the eight patients with SYT-SSX2 rearrangements and 13 patients with monophasic subt …
Additional microarray CGH was performed in 13 cases. RESULTS: Fourteen patients with SYT-SSX1 rearrangements and nine patients with b …
Characterization of pancreatic ductal adenocarcinoma using whole transcriptome sequencing and copy number analysis by single-nucleotide polymorphism array.
Di Marco M, Astolfi A, Grassi E, Vecchiarelli S, Macchini M, Indio V, Casadei R, Ricci C, D'Ambra M, Taffurelli G, Serra C, Ercolani G, Santini D, D'Errico A, Pinna AD, Minni F, Durante S, Martella LR, Biasco G. Di Marco M, et al. Mol Med Rep. 2015 Nov;12(5):7479-84. doi: 10.3892/mmr.2015.4344. Epub 2015 Sep 22. Mol Med Rep. 2015. PMID: 26397140
One case that was negative for KRAS exhibited a G13D neuroblastoma RAS viral oncogene homolog mutation. In addition, gene fusions were detected in 10 samples for a total of 23 different intra- or inter-chromosomal rearrangements, however, a recurrent fusion transcri …
One case that was negative for KRAS exhibited a G13D neuroblastoma RAS viral oncogene homolog mutation. In addition, gene fusions wer …
Loss of genetic material is more common than gain in acute myeloid leukemia with complex aberrant karyotype: a detailed analysis of 125 cases using conventional chromosome analysis and fluorescence in situ hybridization including 24-color FISH.
Schoch C, Haferlach T, Bursch S, Gerstner D, Schnittger S, Dugas M, Kern W, Löffler H, Hiddemann W. Schoch C, et al. Genes Chromosomes Cancer. 2002 Sep;35(1):20-9. doi: 10.1002/gcc.10088. Genes Chromosomes Cancer. 2002. PMID: 12203786
Losses resulting from structural abnormalities most frequently involved 5q (n = 100), 17p (n = 47), and 12p (n = 29), whereas gains of 11q (n = 21), 21q (n = 19), and 8q (n = 11) were observed. Using locus-specific probes, deletions of the EGR1 locus (5q31), of 7q31 …
Losses resulting from structural abnormalities most frequently involved 5q (n = 100), 17p (n = 47), and 12p (n = 29), whereas gains of 11q ( …
Characterization of human laryngeal primary and metastatic squamous cell carcinoma cell lines UM-SCC-17A and UM-SCC-17B.
Carey TE, Van Dyke DL, Worsham MJ, Bradford CR, Babu VR, Schwartz DR, Hsu S, Baker SR. Carey TE, et al. Cancer Res. 1989 Nov 1;49(21):6098-107. Cancer Res. 1989. PMID: 2790823
Several karyotypic abnormalities were common to all three cell lines and therefore represent mutations present in the tumor before the divergence of the metastatic and subline populations whereas those rearrangements observed only in one cell are more likely to be s …
Several karyotypic abnormalities were common to all three cell lines and therefore represent mutations present in the tumor before the diver …
Parental origin determination in thirty de novo Robertsonian translocations.
Shaffer LG, Jackson-Cook CK, Stasiowski BA, Spence JE, Brown JA. Shaffer LG, et al. Am J Med Genet. 1992 Aug 1;43(6):957-63. doi: 10.1002/ajmg.1320430611. Am J Med Genet. 1992. PMID: 1357969
Interestingly, 12/13 probands who were trisomic and informative for proximal chromosome 21q loci were homozygous for the markers tested. Segregation (2:1) of the Robertsonian translocation into one daughter cell in meiosis I and subsequent failure of the chromosome 21 chro …
Interestingly, 12/13 probands who were trisomic and informative for proximal chromosome 21q loci were homozygous for the markers test …
28 results