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Year Number of Results
2005 1
2006 1
2007 1
2008 6
2009 4
2010 12
2011 13
2012 22
2013 12
2014 21
2015 18
2016 18
2017 25
2018 32
2019 32
2020 32
2021 18
2022 20
2023 22
2024 6

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274 results

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Unknown field was ignored: [variant_type]
Page 1
Conventional Cytogenetic Analysis and Array CGH + SNP Identify Essential Thrombocythemia and Prefibrotic Primary Myelofibrosis Patients Who Are at Risk for Disease Progression.
Tripodi J, Hoffman R, Tremblay D, Ahire D, Mascarenhas J, Kremyanskaya M, Najfeld V. Tripodi J, et al. Int J Mol Sci. 2024 Apr 5;25(7):4061. doi: 10.3390/ijms25074061. Int J Mol Sci. 2024. PMID: 38612873 Free PMC article.
Leveraging the ability to detect submicroscopic copy number alterations and regions of copy neutral-loss of heterozygosity, we identified a higher number of patients harboring genomic abnormalities than previously reported. ...
Leveraging the ability to detect submicroscopic copy number alterations and regions of copy neutral-loss of h …
High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients.
Brandt VP, Holland H, Blüher M, Klöting N. Brandt VP, et al. Front Genet. 2024 Mar 7;14:1323052. doi: 10.3389/fgene.2023.1323052. eCollection 2023. Front Genet. 2024. PMID: 38516060 Free PMC article.
Altogether, we identified 31 small Copy Number Variations (losses: 1p31.1, 1p22.2, 1q21.3, 2q34, 2q37.1, 3q28, 6p25.3, 7q31.33, 7q33, 8p23.3, 10q22.3, 11p15.4, 11p15.1, 11p14.2, 11p12, 13q12.3, 15q11.2-q13.1, 15q13.3, 20q13.2, 22q11.21; gains: 2q22.1-q22.2, 3p14.3, 4p16.3, 4q32.2 …
Altogether, we identified 31 small Copy Number Variations (losses: 1p31.1, 1p22.2, 1q21.3, 2q34, 2q37.1, 3q28, 6p25.3, 7q31.33, 7q33, 8p23.3 …
Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium.
Stańkowska W, Sarkisyan D, Bruhn-Olszewska B, Duzowska K, Bieńkowski M, Jąkalski M, Wójcik-Zalewska M, Davies H, Drężek-Chyła K, Pęksa R, Harazin-Lechowska A, Ambicka A, Przewoźnik M, Adamczyk A, Sasim K, Makarewicz W, Matuszewski M, Biernat W, Järhult JD, Lipcsey M, Hultström M, Frithiof R, Jaszczyński J, Ryś J, Genovese G, Piotrowski A, Filipowicz N, Dumanski JP. Stańkowska W, et al. Cancers (Basel). 2024 Feb 27;16(5):961. doi: 10.3390/cancers16050961. Cancers (Basel). 2024. PMID: 38473323 Free PMC article.
Clonal origin and genomic diversity in Lynch syndrome-associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H.
Takahashi K, Yachida N, Tamura R, Adachi S, Kondo S, Abé T, Umezu H, Nyuzuki H, Okuda S, Nakaoka H, Yoshihara K. Takahashi K, et al. Genes Chromosomes Cancer. 2024 Mar;63(3):e23231. doi: 10.1002/gcc.23231. Genes Chromosomes Cancer. 2024. PMID: 38459936
Whole-exome sequencing for the corpus, cervical, and ovarian tumors of the proband identified a copy-neutral loss of heterozygosity (LOH) occurring at the MLH1 position in all tumors. ...
Whole-exome sequencing for the corpus, cervical, and ovarian tumors of the proband identified a copy-neutral loss of …
Intramedullary Spinal Cord Tumors: Whole-Genome Sequencing to Assist Management and Prognosis.
Mayol Del Valle M, Morales B, Philbrick B, Adeagbo S, Goyal S, Newman S, Frontera NL, Nduom E, Olson J, Neill S, Hoang K. Mayol Del Valle M, et al. Cancers (Basel). 2024 Jan 18;16(2):404. doi: 10.3390/cancers16020404. Cancers (Basel). 2024. PMID: 38254893 Free PMC article.
PFS (months) was given as a hazard ratio. Only the absence of copy neutral loss of heterozygosity (LOH) was shown to be significant (0.05, p = 0.008). ...
PFS (months) was given as a hazard ratio. Only the absence of copy neutral loss of heterozygosity (LOH) w …
Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis.
Takahashi H, Natsumeda M, Hara N, Koyama A, Shimizu H, Miyashita A, Satake D, Mouri Y, Tsukano J, Kawabe K, Tsukamoto Y, Okada M, Ogura R, Yuki A, Umezu H, Kakita A, Ikeuchi T, Oishi M. Takahashi H, et al. Acta Neuropathol Commun. 2024 Jan 22;12(1):14. doi: 10.1186/s40478-024-01723-0. Acta Neuropathol Commun. 2024. PMID: 38254245 Free PMC article.
Moreover, the mutant allele frequencies of the two mutations were markedly higher in tumor sites than in normal sites, with copy-neutral loss-of-heterozygosity (CN-LOH) occurring in tumor. ...
Moreover, the mutant allele frequencies of the two mutations were markedly higher in tumor sites than in normal sites, with copy-n …
DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved.
Risinskaya N, Gladysheva M, Abdulpatakhov A, Chabaeva Y, Surimova V, Aleshina O, Yushkova A, Dubova O, Kapranov N, Galtseva I, Kulikov S, Obukhova T, Sudarikov A, Parovichnikova E. Risinskaya N, et al. Int J Mol Sci. 2023 Dec 18;24(24):17602. doi: 10.3390/ijms242417602. Int J Mol Sci. 2023. PMID: 38139431 Free PMC article.
Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.
Murphy AJ, Cheng C, Williams J, Shaw TI, Pinto EM, Dieseldorff-Jones K, Brzezinski J, Renfro LA, Tornwall B, Huff V, Hong AL, Mullen EA, Crompton B, Dome JS, Fernandez CV, Geller JI, Ehrlich PF, Mulder H, Oak N, Maciezsek J, Jablonowski CM, Fleming AM, Pichavaram P, Morton CL, Easton J, Nichols KE, Clay MR, Santiago T, Zhang J, Yang J, Zambetti GP, Wang Z, Davidoff AM, Chen X. Murphy AJ, et al. Nat Commun. 2023 Dec 18;14(1):8006. doi: 10.1038/s41467-023-43730-0. Nat Commun. 2023. PMID: 38110397 Free PMC article.
Of 99 total tumor specimens, 16 (16.1%) have 11p15.5 normal retention of imprinting, 25 (25.2%) have 11p15.5 copy neutral loss of heterozygosity, and 58 (58.6%) have 11p15.5 H19/ICR1 epigenetic hypermethylation (loss of imprinting). ...
Of 99 total tumor specimens, 16 (16.1%) have 11p15.5 normal retention of imprinting, 25 (25.2%) have 11p15.5 copy neutral l …
Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa.
Zhou W, Fischer A, Ogwang MD, Luo W, Kerchan P, Reynolds SJ, Tenge CN, Were PA, Kuremu RT, Wekesa WN, Masalu N, Kawira E, Kinyera T, Otim I, Legason ID, Nabalende H, Ayers LW, Bhatia K, Goedert JJ, Gouveia MH, Cole N, Hicks B, Jones K, Hummel M, Schlesner M, Chagaluka G, Mutalima N, Borgstein E, Liomba GN, Kamiza S, Mkandawire N, Mitambo C, Molyneux EM, Newton R, Glaser S, Kretzmer H, Manning M, Hutchinson A, Hsing AW, Tettey Y, Adjei AA, Chanock SJ, Siebert R, Yeager M, Prokunina-Olsson L, Machiela MJ, Mbulaiteye SM. Zhou W, et al. Nat Commun. 2023 Dec 6;14(1):8081. doi: 10.1038/s41467-023-43881-0. Nat Commun. 2023. PMID: 38057307 Free PMC article.
Mosaic chromosomal alterations in Burkitt lymphoma cases include gains on chromosomes 1q and 8, the latter spanning MYC, while mosaic chromosomal alterations in Burkitt lymphoma-free children include copy-neutral loss of heterozygosity on chromo …
Mosaic chromosomal alterations in Burkitt lymphoma cases include gains on chromosomes 1q and 8, the latter spanning MYC, while mosaic chromo …
274 results