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166 results

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Quoted phrase not found in phrase index: "Ring chromosome anomaly"
Page 1
The ubiquitin-proteasome system and chromosome 17 in cerebellar granule cells and medulloblastoma subgroups.
Vriend J, Marzban H. Vriend J, et al. Cell Mol Life Sci. 2017 Feb;74(3):449-467. doi: 10.1007/s00018-016-2354-3. Epub 2016 Sep 3. Cell Mol Life Sci. 2017. PMID: 27592301 Free PMC article. Review.
Chromosome 17 abnormalities are often observed in medulloblastomas (MBs), particularly those classified in the consensus Groups 3 and 4. ...By comparison, in the WNT group of MBs only one core proteasome subunit, beta6, associated with loss of a gene (PSMB1) …
Chromosome 17 abnormalities are often observed in medulloblastomas (MBs), particularly those classified in the consensu …
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.
Paz-Y-Miño C, Guevara-Aguirre J, Paz-Y-Miño A, Velarde F, Armendáriz-Castillo I, Yumiceba V, Hernández JM, García JL, Leone PE. Paz-Y-Miño C, et al. J Med Case Rep. 2018 Nov 16;12(1):340. doi: 10.1186/s13256-018-1879-5. J Med Case Rep. 2018. PMID: 30442194 Free PMC article. Review.
BACKGROUND: Ring chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac problems, digit and musculoskeletal abnormalities, and mental and motor problems among others. Only 97 clinical cases of ring …
BACKGROUND: Ring chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac …
Molecular and clinical characterization of patients with a ring chromosome 11.
Hansson KB, Gijsbers AC, Oostdijk W, Rehbock JJ, de Snoo F, Ruivenkamp CA, Kant SG. Hansson KB, et al. Eur J Med Genet. 2012 Dec;55(12):708-14. doi: 10.1016/j.ejmg.2012.08.004. Epub 2012 Aug 23. Eur J Med Genet. 2012. PMID: 22975011
Most of the ring chromosomes arise sporadically and parental transmission is rarely observed. ...SNP array analysis was performed to characterize the different ring chromosomes and the clinical phenotypes were compared with previously reported p …
Most of the ring chromosomes arise sporadically and parental transmission is rarely observed. ...SNP array analysis was …
Ring chromosome 12.
Park JP, Graham JM Jr, Andrews PA, Wurster-Hill DH. Park JP, et al. Am J Med Genet. 1988 Feb;29(2):437-40. doi: 10.1002/ajmg.1320290228. Am J Med Genet. 1988. PMID: 3354616
A ring chromosome 12 (p13.3q24.3) was observed in all cells analyzed from skin fibroblasts and the peripheral blood of a 19-year-old man initially referred for developmental delay with expressive language deficiency. ...The four previously reported cases of r …
A ring chromosome 12 (p13.3q24.3) was observed in all cells analyzed from skin fibroblasts and the peripheral blood of …
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. Srikanth S, et al. PLoS One. 2021 Jul 6;16(7):e0253859. doi: 10.1371/journal.pone.0253859. eCollection 2021. PLoS One. 2021. PMID: 34228749 Free PMC article.
The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial deletions, translocations, ring chromosomes, or SHANK3 variants). ...Data collecte …
The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnorm …
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome.
Vaudano AE, Ruggieri A, Vignoli A, Canevini MP, Meletti S. Vaudano AE, et al. Epilepsy Behav. 2015 Apr;45:155-63. doi: 10.1016/j.yebeh.2015.02.002. Epub 2015 Apr 3. Epilepsy Behav. 2015. PMID: 25843339 Review.
Ring chromosome 20 [r(20)] syndrome is an underdiagnosed chromosomal anomaly characterized by severe epilepsy, behavioral problems, and mild-to-moderate cognitive deficits. ...In particular, functional neuroimaging tools are well suited to show alterations re …
Ring chromosome 20 [r(20)] syndrome is an underdiagnosed chromosomal anomaly characterized by severe epilepsy, behavior …
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P. Dei Tos AP, et al. Virchows Arch. 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. Virchows Arch. 1997. PMID: 9293889 Review.
Loss of material from the region 16q13-qter and 13q deletions are observed in spindle cell/pleomorphic lipomas. The well-differentiated liposarcoma/atypical lipoma group is characterised karyotypically by the presence of one extra ring and/or extra giant chromoso …
Loss of material from the region 16q13-qter and 13q deletions are observed in spindle cell/pleomorphic lipomas. The well-differentiat …
Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.
Parmar RC, Muranjan MN, Kotvaliwale S, Sharma S, Bharucha BA. Parmar RC, et al. Am J Med Genet A. 2003 Mar 15;117A(3):275-7. doi: 10.1002/ajmg.a.10044. Am J Med Genet A. 2003. PMID: 12599192 Review.
A ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15-year-old female referred for academic difficulties and growth delay. In addition to clinical manifestations generally observed with ring …
A ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15-year-ol …
Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.
Hajianpour MJ, Hajianpour AK, Habibian R, Wohlmuth C. Hajianpour MJ, et al. Am J Med Genet. 1996 May 17;63(2):335-9. doi: 10.1002/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8725781 Review.
We report on a 30-year-old women with de novo ring chromosome 12 mosaicism, 46,XX, r(12)(p13.3q24.3)/46,XX. In addition to the clinical manifestations generally observed in "ring syndrome" cases such as growth retardation, short stature, microcephaly, …
We report on a 30-year-old women with de novo ring chromosome 12 mosaicism, 46,XX, r(12)(p13.3q24.3)/46,XX. In addition to the …
B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21.
Baloda V, Aggarwal N, Rosado FG, Mackey S, Felker J, Yatsenko SA. Baloda V, et al. Cytogenet Genome Res. 2022;162(5):231-236. doi: 10.1159/000527025. Epub 2022 Dec 9. Cytogenet Genome Res. 2022. PMID: 36502796
Here, we report the development of B-ALL with iAMP21 in a 9-year-old child with a constitutional ring chromosome 21, r(21)c, uncovered after B-ALL diagnosis. Cytogenetic and microarray analysis of the post-therapy sample revealed an abnormal chromosome 21 lac …
Here, we report the development of B-ALL with iAMP21 in a 9-year-old child with a constitutional ring chromosome 21, r(21)c, u …
166 results