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118 results

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Page 1
Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay.
Phelps R, Gallon R, Hayes C, Glover E, Gibson P, Edidi I, Lee T, Mills S, Shaw A, Heer R, Ralte A, McAnulty C, Santibanez-Koref M, Burn J, Jackson MS. Phelps R, et al. Among authors: jackson ms. Cancers (Basel). 2022 Aug 8;14(15):3838. doi: 10.3390/cancers14153838. Cancers (Basel). 2022. PMID: 35954501 Free PMC article.
Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival data.
Łastowska M, Viprey V, Santibanez-Koref M, Wappler I, Peters H, Cullinane C, Roberts P, Hall AG, Tweddle DA, Pearson AD, Lewis I, Burchill SA, Jackson MS. Łastowska M, et al. Among authors: jackson ms. Oncogene. 2007 Nov 22;26(53):7432-44. doi: 10.1038/sj.onc.1210552. Epub 2007 May 28. Oncogene. 2007. PMID: 17533364
A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.
Redford L, Alhilal G, Needham S, O'Brien O, Coaker J, Tyson J, Amorim LM, Middleton I, Izuogu O, Arends M, Oniscu A, Alonso ÁM, Laguna SM, Gallon R, Sheth H, Santibanez-Koref M, Jackson MS, Burn J. Redford L, et al. Among authors: jackson ms. PLoS One. 2018 Aug 29;13(8):e0203052. doi: 10.1371/journal.pone.0203052. eCollection 2018. PLoS One. 2018. PMID: 30157243 Free PMC article.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K. Gallon R, et al. Among authors: jackson ms. Hum Mutat. 2019 May;40(5):649-655. doi: 10.1002/humu.23721. Epub 2019 Mar 6. Hum Mutat. 2019. PMID: 30740824 Free PMC article.
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics.
Gallon R, Sheth H, Hayes C, Redford L, Alhilal G, O'Brien O, Spiewak H, Waltham A, McAnulty C, Izuogu OG, Arends MJ, Oniscu A, Alonso AM, Laguna SM, Borthwick GM, Santibanez-Koref M, Jackson MS, Burn J. Gallon R, et al. Among authors: jackson ms. Hum Mutat. 2020 Jan;41(1):332-341. doi: 10.1002/humu.23906. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31471937 Free PMC article.
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia JA, Gallon R, Chen Y, Koch J, Keller M, Oberhuber K, Gomes A, Zschocke J, Burn J, Jackson MS, Santibanez-Koref M, Messiaen L, Wimmer K. Perez-Valencia JA, et al. Among authors: jackson ms. Genet Med. 2020 Dec;22(12):2081-2088. doi: 10.1038/s41436-020-0925-z. Epub 2020 Aug 10. Genet Med. 2020. PMID: 32773772 Free PMC article.
118 results