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Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.
J Med Genet. 2023 Aug;60(8):747-759. doi: 10.1136/jmg-2022-108931. Epub 2023 Jan 2.
J Med Genet. 2023.
PMID: 36593122
Free PMC article.
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
Erdmann H, Schöberl F, Giurgiu M, Leal Silva RM, Scholz V, Scharf F, Wendlandt M, Kleinle S, Deschauer M, Nübling G, Heide W, Babacan SS, Schneider C, Neuhann T, Hahn K, Schoser B, Holinski-Feder E, Wolf DA, Abicht A.
Erdmann H, et al. Among authors: leal silva rm.
Brain. 2023 May 2;146(5):1831-1843. doi: 10.1093/brain/awac377.
Brain. 2023.
PMID: 36227727
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Cinnamoyloxy-mammeisin, a coumarin from propolis of stingless bees, attenuates Th17 cell differentiation and autoimmune inflammation via STAT3 inhibition.
Franchin M, Luiz Rosalen P, da Silva Prado D, César Paraluppi M, Leal Silva R, Damasceno LEA, Morelo DFC, Napimoga MH, Cunha FQ, Alves-Filho JC, Cunha TM.
Franchin M, et al. Among authors: leal silva r.
Eur J Pharmacol. 2022 Aug 15;929:175127. doi: 10.1016/j.ejphar.2022.175127. Epub 2022 Jul 1.
Eur J Pharmacol. 2022.
PMID: 35787889
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Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.
Scharf F, Leal Silva RM, Morak M, Hastie A, Pickl JMA, Sendelbach K, Gebhard C, Locher M, Laner A, Steinke-Lange V, Koehler U, Holinski-Feder E, Wolf DA.
Scharf F, et al. Among authors: leal silva rm.
J Med Genet. 2022 Oct;59(10):976-983. doi: 10.1136/jmedgenet-2021-108147. Epub 2021 Dec 14.
J Med Genet. 2022.
PMID: 34911816
Free PMC article.
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The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.
Barbosa-Matos R, Leal Silva R, Garrido L, Aguiar AC, Garcia-Pelaez J, André A, Seixas S, Sousa SP, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Costa SC, Magalhães A, Baptista M, Carneiro F, Pinheiro H, Castedo S, Oliveira C.
Barbosa-Matos R, et al. Among authors: leal silva r.
Cancers (Basel). 2021 Sep 4;13(17):4464. doi: 10.3390/cancers13174464.
Cancers (Basel). 2021.
PMID: 34503274
Free PMC article.
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