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Quoted phrase not found in phrase index: "Rearrangement of 11p15"
Page 1
Russell-Silver syndrome.
Eggermann T. Eggermann T. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803658 Review.
Up to 5% of patients carry a maternal uniparental disomy of chromosome 7 (UPD(7)mat), at least 44% show hypomethylation in the chromosome 11p15 imprinting center 1 (IC). In 1-2% of RSS patients, (sub)microscopic chromosomal aberrations can be observed. The diagnosti …
Up to 5% of patients carry a maternal uniparental disomy of chromosome 7 (UPD(7)mat), at least 44% show hypomethylation in the chromosome …
The role of NUP98 gene fusions in hematologic malignancy.
Slape C, Aplan PD. Slape C, et al. Leuk Lymphoma. 2004 Jul;45(7):1341-50. doi: 10.1080/10428190310001659325. Leuk Lymphoma. 2004. PMID: 15359631 Review.
Chromosomal aberrations occur with great frequency and some specificity in leukemia and other hematologic malignancies. The most common outcome of these rearrangements is the formation of a fusion gene, comprising portions of 2 genes normally present in the cell. .. …
Chromosomal aberrations occur with great frequency and some specificity in leukemia and other hematologic malignancies. The most common outc …
Cytogenetic analysis in the examination of solid tumors in children.
Mertens F, Mandahl N, Mitelman F, Heim S. Mertens F, et al. Pediatr Hematol Oncol. 1994 Jul-Aug;11(4):361-77. doi: 10.3109/08880019409140536. Pediatr Hematol Oncol. 1994. PMID: 7947009 Review.
Twenty percent of cytogenetically aberrant Wilms' tumors show structural rearrangements, often deletions, of 11p13 and 11p15, where the WT1 and WT2 genes map. ...The formation of this isochromosome may help inactivate a tumor-suppressor gene located distal to …
Twenty percent of cytogenetically aberrant Wilms' tumors show structural rearrangements, often deletions, of 11p13 and 11p15, …
Rearrangements at the 11p15 locus and overexpression of insulin-like growth factor-II gene in sporadic adrenocortical tumors.
Gicquel C, Bertagna X, Schneid H, Francillard-Leblond M, Luton JP, Girard F, Le Bouc Y. Gicquel C, et al. J Clin Endocrinol Metab. 1994 Jun;78(6):1444-53. doi: 10.1210/jcem.78.6.7911125. J Clin Endocrinol Metab. 1994. PMID: 7911125
Twenty-one patients were informative at the 11p15 locus, and six (four carcinomas and two adenomas) of them (28.5%) exhibited 11p15 structural abnormalities in tumor DNA (five, an uniparental disomy and one, a mosaicism). ...These results in combination with evidenc …
Twenty-one patients were informative at the 11p15 locus, and six (four carcinomas and two adenomas) of them (28.5%) exhibited 11p1 …
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.
Brown LA, Rupps R, Peñaherrera MS, Robinson WP, Patel MS, Eydoux P, Boerkoel CF. Brown LA, et al. Am J Med Genet A. 2014 Jun;164A(6):1587-94. doi: 10.1002/ajmg.a.36490. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668696
Both hypomethylation of the telomeric imprinting control region 1 (ICR1) at 11p15.5 and maternal duplication of 11p15.5 have been implicated in the etiology of this disorder. ...The methylation status of the extra copy of the duplicated region of 11p15.5 ulti …
Both hypomethylation of the telomeric imprinting control region 1 (ICR1) at 11p15.5 and maternal duplication of 11p15.5 have b …
Localization of the beta-globin gene by chromosomal in situ hybridization.
Morton CC, Kirsch IR, Taub R, Orkin SH, Brown JA. Morton CC, et al. Am J Hum Genet. 1984 May;36(3):576-85. Am J Hum Genet. 1984. PMID: 6587773 Free PMC article.
Analyses of 205 midmetaphases from a normal male hybridized with the tritium-labeled beta-globin probe and stained with quinacrine mustard dihydrochloride revealed approximately 12% of spreads to have silver-grain deposition over the p15 band of chromosome 11. Of the 365 silver g …
Analyses of 205 midmetaphases from a normal male hybridized with the tritium-labeled beta-globin probe and stained with quinacrine mustard d …
Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15).
Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T. Fujino T, et al. Blood. 2002 Feb 15;99(4):1428-33. doi: 10.1182/blood.v99.4.1428. Blood. 2002. PMID: 11830496 Free article.
It has been demonstrated that the chromosomal translocation t(7;11)(p15;p15) in patients with human acute myelogenous leukemia (AML) and chronic myelogenous leukemia (CML) invariably involves fusion of the nucleoporin gene, NUP98, on chromosome 11 and the class 1 HOX ge …
It has been demonstrated that the chromosomal translocation t(7;11)(p15;p15) in patients with human acute myelogenous leukemia (AML) and chr …
Cytogenetic findings in 19 malignant bone tumors.
Ozisik YY, Meloni AM, Peier A, Altungoz O, Spanier SS, Zalupski MM, Leong SP, Sandberg AA. Ozisik YY, et al. Cancer. 1994 Oct 15;74(8):2268-75. doi: 10.1002/1097-0142(19941015)74:8<2268::aid-cncr2820740810>3.0.co;2-5. Cancer. 1994. PMID: 7922978
The structural rearrangements observed in OS involved mostly chromosomes 1, 2, 6, 12, and 17. Nonreciprocal translocations were the most frequent event. Two OS had a single clonal abnormality involving 11p15 and 14q32, respectively. Double minute chromosomes …
The structural rearrangements observed in OS involved mostly chromosomes 1, 2, 6, 12, and 17. Nonreciprocal translocations wer …
Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families.
Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS. Gorski JL, et al. Am J Med Genet. 1988 Feb;29(2):247-61. doi: 10.1002/ajmg.1320290202. Am J Med Genet. 1988. PMID: 3354596
We have determined the empirical reproductive risks for heterozygous carriers of complex chromosome rearrangements (CCRs). CCRs are structural rearrangements involving at least three chromosomes and three or more chromosomal breakpoints. ...We failed to detect any e …
We have determined the empirical reproductive risks for heterozygous carriers of complex chromosome rearrangements (CCRs). CCRs are s …
Three non-overlapping regions of chromosome arm 11p allele loss identified in infantile tumors of adrenal and liver.
Byrne JA, Simms LA, Little MH, Algar EM, Smith PJ. Byrne JA, et al. Genes Chromosomes Cancer. 1993 Oct;8(2):104-11. doi: 10.1002/gcc.2870080207. Genes Chromosomes Cancer. 1993. PMID: 7504513
This identified three distinct and non-overlapping regions of 11p within which LOH occurred, which were defined as lying distal to the gamma-globin locus (11p15.5), proximal to the gamma-globin locus but distal to 11p13 (LOH being detected at 11p15.1), and restricte …
This identified three distinct and non-overlapping regions of 11p within which LOH occurred, which were defined as lying distal to the gamma …
37 results